Datasets:
wanglab
/
variant_effect_coding

Dataset card Data Studio Files
xet
Community
ID
stringlengths
13
17
question
stringlengths
88
1.13k
answer
stringlengths
6
156
reference_sequence
stringlengths
4.1k
4.1k
variant_sequence
stringlengths
4.1k
4.1k
Task1_train_700
The gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), on Chromosome 1, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
GCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGT
GCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCTACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGT
Task1_train_701
A change on Chromosome 1 affects gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
AGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGG
AGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCCACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGG
Task1_train_702
Here’s a variant in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
TGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTC
TGGGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCACTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTC
Task1_train_703
This sequence variant lies in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
GGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCT
GGAGTCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCCGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCT
Task1_train_704
An alteration has been detected in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Rare genetic deafness
TCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCT
TCCGGGACTGAGGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAAGGGGGCTGTGTGAGGTAGCACCTCTGGGCTGGGAGTCCGGGACTGAGGGGGGCCGTGTGAGGTGGCACCTCTGGGCTGAGGGCTGAAGGTGGAAAGAGGCTTCTCATACCATGGCTCAGAGAGCAGCTTGCTGTGCTGTGTTCCCTCAGCTGTGGCTGCCCCTCTCTGGGCATCATCTCCACTTTATAGCAAGTGTTGGGGGACCTCCTGCCTCTATGCAAGGGCTTATGATGGGTCCAGAATAGAAGTGAGTAGGCTCCACCCCTTCTCAGGACAAAATCTGCAAACTCCACGTGTGGTGGATTTTAGGTCAGTTTTTGCCTAAACACAAAACACCAAATGGAAGCCCCTCAGAGGGAGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTCGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCT
Task1_train_705
Here’s a variant in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) located on Chromosome 1. What is the predicted biological effect — harmless or disease-causing?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
AGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAAC
AGACAGCTGACAGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATCGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAAC
Task1_train_706
This alteration in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Nonsyndromic genetic hearing loss
AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCAGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
Task1_train_707
A sequence alteration has been identified in KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; not provided
AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
AGCCAGCAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCTGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGG
Task1_train_708
Gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
CAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTA
CAACCCCTTTTGTCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATCGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTA
Task1_train_709
This sequence change occurs on Chromosome 1, altering KCNQ4 (potassium voltage-gated channel subfamily Q member 4). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
TCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCG
TCACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACATCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCG
Task1_train_710
The variant affects gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
CACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGT
CACCAGGTCAGAGTTAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACTGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGT
Task1_train_711
Chromosome 1 houses a mutation in gene KCNQ4 (potassium voltage-gated channel subfamily Q member 4). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Autosomal dominant nonsyndromic hearing loss 2A
TAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGGGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGTTTTACAGGTGAAGA
TAGGGAGTCTGAGACAGCTGGGACAGGGAGGGCCTGTTGAGGAGCAGAAAAATCCGATCAGTTCATGGGGACCGGAAGGGGAGGACACACTAGGGCTTTTAGTCTTCTTGCAGGAGGCGGAGGGGGCCACCTGCCCTCCGGAATCGTCAAGTCCAGGAAACTCCAGGAGAGGGGTCCGAGGAGGCCCTGGTCCCCCTAACCCAGGGACTCTTGGCTGGGTCCGCGCTGTGACCTGGGCCCCAGTTCTGGAGACTGAGGACCAGAACTCAGGCCCCTGGTCCCACAGGAATTCGTGATGATCGTGGTTTTCGGCTTGGAGTACATCGTCCGGGTCTGGTCCGCCGGATGCTGCTGCCGCTACCGAGGATGGCAGGGTCGCTTCCGCTTTGCCAGAAAGCCCTTCTGTGTCATCGGTAATGAGGCGCGCCCCGCCCGACCTGACCCCTGACCCCAGGAGCCAGGGTGACGCCTTTACTCCCAATCCCGACTCTGACCCTGGAGACCCGCACAGATTCAGCGGACCCTCCCCCTCCCTCCCCAGTCCCCTGCCACATCCCCAGAAGTCCCCGCCTCCGGGTCCGTGCGCGGGGTAGGCTGGCTGTGATCTCGCCGCCCCCGCCCCTGCAGACTTCATCGTGTTCGTGGCCTCGGTGGCCGTCATCGCCGCGGGTACCCAGGGCAACATCTTCGCCACGTCCGCGCTGCGCAGCATGCGCTTCCTGCAGATCCTGCGCATGGTGCGCATGGACCGCCGCGGCGGCACCTGGAAGCTGCTGGGCTCAGTGGTCTACGCGCATAGCAAGGTGAGGCCTGCAAGCCGCGCGCGGAGACCCGAGGGCGTGTCTGGGGCACGACCAGAGCGGGCAGGGCGGAGAGGGCGAGGTCAGAGGGGCTGTCTCCGTGCTGGGAAGGGGTGTGGCCTGCGGGGGTTGGAGCCCTAGCAGGAGGCGAGGTCTAAGCGGGTGGGGCGAAGTGGATTCTGAATTAGGTAGGGGCGGGCCTAGGAGTCCGGACCGGATCAGGGGGCGGGGCCGGAGAGGCGGGGCTTGAGGGTTTCCCCTGGATGCTTCTGGGTTTGAAGGGACCACTCGTACCACAAAGTGGGCAGCTGAGGTGGGACTTGAGGGTGGGGCTGGAGCGGGGCTAGGGTGGGCCCCAGGTGGAAGCCTGAAAGTGGGACTTGGGGGACGGGGCAAGGTAGGCCGGGTGCTGGAGTCCTGAGCCTGGAACCTGGAGACTCAAGGCAGGCGGGGTGAGGGTGGGGGTGGGAATGGGGGTCGGGGTAGGGGGAGTGCTGGCGGTTTCGCGAAGGCCGGGGCAGGGTCGCCGTGATGGGAGGAGCTGAGAAAGAAAAGCGAGCCTGGGACTCCGGGAGATGGGGGACCTTTATCCCTTTCCCGTGTGGAAGCCCCCCACATCTCCCAGGCAGGCACAGCGCTCCTCACCGCGCCCCTCCGCCTGCCCCGCAGGAGCTGATCACCGCCTGGTACATCGGGTTCCTGGTGCTCATCTTCGCCTCCTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACTTCTCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGAGGGTCTTTGTAGGGCTGCCCTTCTCCCTGGGATCCTCCCTGGGAACTTCCCGAGGTCTGCCCATCGTGACTCCTGACTCAGGGTTGAGCGGGCCTGCCCCTGCCCTCTCACTAGAGCTGGGACCCCCCTGAGACCAGCCCCAATGCTAACCCCCCAACCTGCTCTGGTGGACCTGCCTCTGTCCCCAGCTAGCCCCGCACATCAAGACCTTGTGACTATACCCCTTTCCCCTGACCAGCCCAGGAGAGGGAGAATCCATCTATGACCCTAACCAGCCCCCGTGGGTGACCAGGGGCCCCTTCCCTCATGATCAGGCTCCTACCTGCCTGTACCCCCAACAAGCCGTAGGTGGCCCCCGTGACCAGTCCTGCCTGTAACCTGTTTGTGTCTCCAGATTACATTGACAACCATCGGCTATGGTGACAAGACACCGCACACATGGCTGAGCAGGGTCCTGGCTGCTGGCTTCGCCTTACTGGGCATCTCTTTCTTTGCCCTGCCTGCCGTGAGTTGCCTCCTGCTCAGTTGGTGGGGGAGGCTGAGGGTGGGACCTGCTCACCCCTGTCACACATTTGCCTGGGGAGCCTGGGGTACCTCAGAGGGGCAAGGATGGGGACACCCTTGCAGCCTCTTACTGCCCCACCACTGCCAGCACATTCCCCCAACCATGCCCTATCCCTCTAGGGCATCCTAGGCTCCGGCTTTGCCCTGAAGGTCCAGGAGCAGCACCGGCAGAAGCACTTCGAGAAGCGGAGGATGCCGGCAGCCAACCTCATCCAGGTACAAGATGCCCGGGAAGAAGCCCTAGGAGCAGGGCCGTGTGACTGCACTGGTGTGTCAACCCTGTGTGCTGACCCATGTCCCCAGCCCAACTGTGACACCACTTTGAAGCTCAAAAGGGCTATGTGACTTTCCTGGAGCCACATGCCAAGTCACACACAGAGCCAGGATGCTCACTGACAGTGCCAGAAACTTCCCCCTGCACCAAATGCCTGGTTTAGGGCTAGCCAGAACTGCCCTATTGCCCAACTCCAGCCCAACTTCACAGGGCCTGGGGAGGGGCGGAGCCCAGACAGGAGCTGGGAGGCCTCTGGTGGAGACCCACTGCTGCCCCCATCAGCTGTGCAGCAGTAAGCCTGCCCCACTTCCAGCACCTTCATTCATTCATTCATTCCACAAGCACTCACACAAATGAAGAGAGGATGGTGCAGACAGGGCTTTTAGGAATCTCAACATTTAGCAGGTGGGTGGGCCTGCAAAGTTGAGCTGGGCAAGGAGACAGAAGGAACAGCCAGAGGGGTGGGTAGGAAGCCAGGAGTGTGTGGTCTCAGTTTCCCTCTGTGCCATGGCGTGTTGTGACTGTGTGTGGGCTGAGGCCAGGGCTCTGATTTTCTGTGACCCTGGGACTAGGCCTTGGCTTTTTCTAGTCAGGGGTGTGTGTAAGGGAACTCCTTGCAGGAAATGCTTCAGGGAATACTGGCCCAGTCCACCTCTGCCTGCTCCCTAGCCTGTCACCCTCTGAGCCCCAAACCCAAGCCTCACTCAGCCCTTCCTTATCTCTCCTCCCCAGGGTAGAACCCTCCTCCCTGTCGCTGTTATCTCCAGCCACCAGCTCAGCCTTTTCTTCTTAGCGTCCCTTGGGGCACAATGGCCACTGTCCCCTGGGAGCTGGCCTTCTGAGGGGCATTGTAGGGGCAGGCGGCTGGCACTGTCCATGCCAAGAGACAGCTAGTATTGTGGTGCCCATAATTAATGAGACAGCTCTGGCAGCTGCTCCCCAGCCCATGCCAGGGGCCTAGGCAAGCAGGAAGTAAAAATATTCCTGTCTTAGGAGGGTGCCTGGCTGGTGAGGTCAGCAGTGGCAGCCCCTTAAGGACAAGAGGCATCCAAAGAAGGGAGGCGTCCAGGGCCCAGCTCTGCCTTGTCCTGCCTAGCAGCCTCCATGCCTCCCTGCTCTCACTGATGGCCACACTCACAGTCCCTCCCTGGCTCTTCCTACGTGGAGGGAGAGGGACAGTCTCTCCTCCTGTCTGACTTTCATCCCTCCTGCTGCAGAGGAAGCTCGGCAAGCCCATGGATGCTGAGGGGTTGGTAGGTAATGCTTTTCCTCCCCTCTCAGTCCTTAGTATTCCCATGGGCAGTGACAGGCAGCTGGGAAAGATGGAGTGGCATTGCTAGTAATAATAATGACATTCTGCAAACATTTGCAAAGCACCCACATGTGCCAGACACTATATTTGCACTGAGAATGCAGCGGTAACAAAGACACAGCTTGCAGTCTAGGGGGAGAGAAAGTTATCAGTCAAATACACAATGAATAGGTATTCATCAAATGTGATAAGGGGAATAACAGGAGTGTTTAACAGAGGAACCTGGCATGAAGTGCCTACTATATACCAGGCACTGAGCTTGGCATTTAATATACAACTGTTCATTTAATCCTCACAACACCCTGGTAGGCAAGTAGTGTTACATGCGTTTTACAGGTGAAGA
Task1_train_712
Consider a variant on Chromosome 1 in gene CCDC30, PPCS (coiled-coil domain containing 30| phosphopantothenoylcysteine synthetase). Determine its clinical classification and disease relevance.
Pathogenic; Cardiomyopathy, dilated, 2c
CCCTCTCAAAATGCAGCTCAAATGTTTCTTCCACAGGGAAAGCTTTCCACATACTGCCCCATTCACTATCGTCTCACTCTCGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCGAGCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAGCACCACTCCCGCCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTCTTTACTGATTTGTCTCCCACATTGGAATGTTAGATCTTTGAAGGAACTGATCTACCGAGCTGCCCCAGTAACTTTAGCACCTAAAATAGTGCATAACACAGAGTACGCCTTCAGAAAACATGAGTGACGAATAAGTGGGAGATGAGACAGACGAGGCCACGGGAGTCTTAGGGGCCTGTCTTAAAGCCGTTTTGAGGTGTCCCTTGCAGAGTCAGGGGCAACGGCTAACGCAAGGTACCCAAGCCAGACCCGGGAAAGGGAGAGAGGGAGGGAGTTATAGCGCCCAGGTGCCACGTTTCAGGGCCTACCAGTAATAAGTGACTGTGCAGGCCGCGCACACCCGCTCGGCTGGGGCTTCGCACACCTCACAGCAGAGTCTGCGCCCCTTGGGGACTGCCAGTGGGTAGATCACATTCATGGTGCAGCCAGCAGTGCTGGTCTCTAAGACGGTTGCCCAGCAAGGATACGCTGAACCCCGGCGTCACGTGACGATCGCGGGGCTGCGTACTTGCCAGCATTTCAAGGGCAGAGGGCGGCGGGACGTGACTCGACTAACATCTGGGTGTATTGCTGAAGTTGGAAAAGGGGAAGAAAGAAAGAAAAAGCAGCACAAAACCCACAAGTCCCACGGGTCAAATGGCCGAGAAACGACTCCCAAGGAGTCCAAGTCCAGAAAGGCCCGTACAGTGGCCGGTAAGGGTCAAACATGGCCAGTTCTTCACCCAGGCTAGGAAACGAACGTGAGGGAACGTGACCCTACCAGATGCCCACCCAGCCGGGGATCCCCCTCGTTGCAGTGTCACTTTCGCTGGGCTCTGGGGCAGAACAACTACGCATTTCCAGACTTGGCGAGATCGGGACCTAGTGTCAAAAGAAGGGTAGTGAACCGCCCACTCAGTACGGCGCGGCGCGTACACCAGGTAGGCGAGAAGGGGCGTGGCGCGGCGGCCGCGAAACGTGCGCAGGCGCCGGCCGCTGCGCTGCAGATGGCGGAAATGGATCCGGTAGCCGAGTTCCCCCAGCCTCCCGGTGCTGCGCGCTGGGCTGAGGTTATGGCTCGCTTCGCGGCCAGGCTGGGCGCGCAGGGCCGGCGGGTGGTGTTGGTTACGTCAGGCGGCACCAAGGTCCCACTGGAAGCGCGGCCGGTGCGCTTCCTGGACAACTTCAGCAGCGGGCGGCGCGGTGCAACCTCGGCCGAGGCCTTCCTAGCCGCCGGCTACGGGGTCCTGTTCTTGTATCGCGCTCGCTCTGCCTTCCCCTATGCCCACCGCTTCCCACCCCAGACTTGGCTGTCCGCTCTGCGGCCTTCGGGCCCAGCCCTTTCGGGCTTGCTGAGCCTGGAGGCCGAGGAGAATGCACTTCCGGGTTTTGCTGAGGCTCTGAGGAGCTACCAGGAGGCTGCGGCTGCAGGCACCTTCCTGGCAGTAGAGTTCACCACTTTGGCGGACTATTTGCATCTGTTGCAGGCTGCGGCCCAGGCACTCAATCCGCTAGGTGCGTGCCCTAGGAGTACCCCTTTTGCCTGGAAGCACAGCCTTTCTTTCCAGCCACTTATCCCCTTACCTCCTGCTTACCCACGGATCTCAGCTGGGGAACCCGAGTTGAGAAGGAGCTGATCCTATATCGTACCTCGCCGATTTGTTAACACCTTGTGTTTCTCTTTGCAGGCCCTTCTGCGATGTTTTACCTGGCTGCGGCTGTGTCAGATTTCTATGTTCCTGTCTCTGAAATGCCTGAACACAAGATCCAGTCATCTGGGGGCCCACTGCAGGTGATGGGCGCTTCTCTTCCAGAGATCTAATCCCATATAACCAATCTTGGGTTAATTTCCTCTTGATCTGGAGATGGCCTTTCTGCATCTGTATTCGCTAGGCACAGGGGATACAGAGATGAATAAGACACCGCCCTCCCTCATGGACCTCACAATCTAGTGAGGGAGCTGGACACAGACATAATTACAATACAGAGTGATAAATGCTCTAGTGGAGGTATGTACAAAGTGCAGTCAGATCATGGGGCGAGTGAATCCTGGGGGAGTCGATGAAGCTTCTTGGAGGAGATGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTT
CCCTCTCAAAATGCAGCTCAAATGTTTCTTCCACAGGGAAAGCTTTCCACATACTGCCCCATTCACTATCGTCTCACTCTCGTTGCCCAAGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGCGAGCTCCGCCTCCCGGGTTCAAGCGATTCTTCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCAGCACCACTCCCGCCTAATTTTTGTATTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCGCCCGCCTCGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGTTTCTTTACTGATTTGTCTCCCACATTGGAATGTTAGATCTTTGAAGGAACTGATCTACCGAGCTGCCCCAGTAACTTTAGCACCTAAAATAGTGCATAACACAGAGTACGCCTTCAGAAAACATGAGTGACGAATAAGTGGGAGATGAGACAGACGAGGCCACGGGAGTCTTAGGGGCCTGTCTTAAAGCCGTTTTGAGGTGTCCCTTGCAGAGTCAGGGGCAACGGCTAACGCAAGGTACCCAAGCCAGACCCGGGAAAGGGAGAGAGGGAGGGAGTTATAGCGCCCAGGTGCCACGTTTCAGGGCCTACCAGTAATAAGTGACTGTGCAGGCCGCGCACACCCGCTCGGCTGGGGCTTCGCACACCTCACAGCAGAGTCTGCGCCCCTTGGGGACTGCCAGTGGGTAGATCACATTCATGGTGCAGCCAGCAGTGCTGGTCTCTAAGACGGTTGCCCAGCAAGGATACGCTGAACCCCGGCGTCACGTGACGATCGCGGGGCTGCGTACTTGCCAGCATTTCAAGGGCAGAGGGCGGCGGGACGTGACTCGACTAACATCTGGGTGTATTGCTGAAGTTGGAAAAGGGGAAGAAAGAAAGAAAAAGCAGCACAAAACCCACAAGTCCCACGGGTCAAATGGCCGAGAAACGACTCCCAAGGAGTCCAAGTCCAGAAAGGCCCGTACAGTGGCCGGTAAGGGTCAAACATGGCCAGTTCTTCACCCAGGCTAGGAAACGAACGTGAGGGAACGTGACCCTACCAGATGCCCACCCAGCCGGGGATCCCCCTCGTTGCAGTGTCACTTTCGCTGGGCTCTGGGGCAGAACAACTACGCATTTCCAGACTTGGCGAGATCGGGACCTAGTGTCAAAAGAAGGGTAGTGAACCGCCCACTCAGTACGGCGCGGCGCGTACACCAGGTAGGCGAGAAGGGGCGTGGCGCGGCGGCCGCGAAACGTGCGCAGGCGCCGGCCGCTGCGCTGCAGATGGCGGAAATGGATCCGGTAGCCGAGTTCCCCCAGCCTCCCGGTGCTGCGCGCTGGGCTGAGGTTATGGCTCGCTTCGCGGCCAGGCTGGGCGCGCAGGGCCGGCGGGTGGTGTTGGTTACGTCAGGCGGCACCAAGGTCCCACTGGAAGCGCGGCCGGTGCGCTTCCTGGACAACTTCAGCAGCGGGCGGCGCGGTGCAACCTCGGCCGAGGCCTTCCTAGCCGCCGGCTACGGGGTCCTGTTCTTGTATCGCGCTCGCTCTGCCTTCCCCTATGCCCACCGCTTCCCACCCCAGACTTGGCTGTCCGCTCTGCGGCCTTCGGGCCCAGCCCTTTCGGGCTTGCTGAGCCTGGAGGCCGAGGAGAATGCACTTCCGGGTTTTGCTGAGGCTCTGAGGAGCTACCAGGAGGCTGCGGCTGCAGGCACCTTCCTGGCAGTAGAGTTCACCACTTTGGCGGACTATTTGCATCTGTTGCAGGCTGCGGCCCAGGCACTCAATCCGCTAGGTGCGTGCCCTAGGAGTACCCCTTTTGCCTGGAAGCACAGCCTTTCTTTCCAGCCACTTATCCCCTTACCTCCTGCTTACCCACGGATCTCAGCTGGGGAACCCGAGTTGAGAAGGAGCTGATCCTATATCGTACCTCGCCGATTTGTTAACACCTTGTGTTTCTCTTTGCAGGCCCTTCTGCGATGTTTTACCTGGCTGCGCCTGTGTCAGATTTCTATGTTCCTGTCTCTGAAATGCCTGAACACAAGATCCAGTCATCTGGGGGCCCACTGCAGGTGATGGGCGCTTCTCTTCCAGAGATCTAATCCCATATAACCAATCTTGGGTTAATTTCCTCTTGATCTGGAGATGGCCTTTCTGCATCTGTATTCGCTAGGCACAGGGGATACAGAGATGAATAAGACACCGCCCTCCCTCATGGACCTCACAATCTAGTGAGGGAGCTGGACACAGACATAATTACAATACAGAGTGATAAATGCTCTAGTGGAGGTATGTACAAAGTGCAGTCAGATCATGGGGCGAGTGAATCCTGGGGGAGTCGATGAAGCTTCTTGGAGGAGATGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTT
Task1_train_713
Chromosome 1 houses a mutation in gene CCDC30, PPCS (coiled-coil domain containing 30| phosphopantothenoylcysteine synthetase). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided
TGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTTGGCTAATTTTTGTATTTTTTTGTAGAGACATGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTGGGCTCAAGCGATCCACCCATCCTGGCCTTCCAAAGTGCTGGGATTACAGGCCAAGCCACTGTGTTCCCCTAAGACTTTTTAAACTAAACATTTAACTGAAAAGTTTGATGGTTGAGAAATCCCACTTAAATTTAATTCCTTAGTTTCCCATGAGATTGACCTGGTAGGTAATGACCATTGTTTGCTTATTAAGCTTTTCTTTTTCCAATACAGATAACAATGAAGATGGTGCCAAAACTGCTTTCTCCTTTGGTTAAAGATTGGGCTCCCAAAGCATTTATAATTTCCTTTAAGTTGGAGACTGACCCCGCCATTGTAATTAATCGAGCTCGGAAGGCTTTGGAAATTTATCAGCATCAAGTGGTGGTGGCTAATATCCTTGAGTCACGACAGTCCTTTGTGTTTATTGTAACCAAAGACTCGGAAACCAAGTTATTGCTATCAGAGGAAGAAATAGAAAAAGGCGTAGAGATAGAAGAGAAGATAGTGGATAATCTTCAGTCTCGACACACAGCTTTTATAGGTGACAGAAACTGAAGTAAAAAGCCCTTATAGGATCAAAAATTGTTCAGGGCTCTTAGAGATGGTGAAAACTACAAAAAAAACCATGGCTTTCATATGGACAGATAAAATGAAAGAAAGGGAAAAGGCAGTGGTGTGTAGGCAAATATGGTTTGGCATTTGTCTTTTAATGACACCTGATATGATGTCATTTTGATTTTGAAATTGAACACTAGAACTGTTAATCACCTTTAAAAAGAAGAGCTTATTGGGAATTATATATTCCTTAAAATATACATGGGGGCCTGAATGTCAGCCATCTTTATACTATAGAAAAAGGATTATGGATGCATGAATGGTCATGCTTTGGAGATCAAATATTGGTTGAATGCCTATGTATGTCAGGCCCTGTGCTGAGCCATGAGGATTAAAAAGATGAATAAACATATCTTGTTTAGGAAATGGATGTATAAAAAAATCAAGTGCAATAAAGTGTGTGTCCAAAAGCTGACACAATGGAAAGGATGTTTTGTTTTGTTTGAAATTTATCAAATATAGTAGTAGGAAAGAAGGATACCTCCCTGAAGATAGATTGTAGAATGGTGAGCTTTTCACTGCATTTACTTTTTGCTTCTTATTGTAGATTCACCTCATGTTTGGGTAATAGTTTACATTTCAAGTATTTTAGGACTGCTTTTCAGTTTAACTTAATATGTCCTTCCACCTGGGACCAGGCAGGGGCCACTTGGTGATCTCTGTCCTGAGGGATGCATTACAGTGTGGTAGAGTATGGGCTAGAAGTCAACTTAGCCAGCTGTGCCACCTATTAGCTTTATAAACTTAGGCATTTGACTTAATCTCAGTGTCCACATGCATAAAATGAGGATAATCTCTCTGCAAAGTAATGCCATTTATTGTGAGGATCAAATGAAATAGCAAAAAGAAAGCATCAGTCTGGTGCCTAGCATTTGATTCACACTCACTAAATGGTTGCAATTATTGTTTTTCTCACTTAGCAAAGCAGTGTTACACCACTGCCCTGCTTAATCTTTGAATCCTTGAGAATCTTTGAAAAACTTTCAATACTTCTCTTGCTGTCCTACGTTTTGGGTTTGGAGTGCACAAGTAGCATAGTGCAAAAAAATTCCCTAAATGATCTGTAGGATAGTCCAGGTGCAATTTGAAAAATTAGCATTGATGACTAAGGTAGAAGCAGGTACTGTGTTTCACATAAATATTTGACTTAAAATACAATTCATGGTGTTTCATGGAGTAGGGAAGGGTAGCCCCTGTGTCTGTCTGATAATAGAAGTACAATAAATTTAATTGAGAAGATTTGACAGAAATTCTAAGACTGAAATACTTCATTAATCAGGAAATGTGACCTTGAACAGAGGAAAAATACTGCAGCAGTCAAGACTGTTCTGGAAGCAGCAGTCCCTTTGAACAAAAAAATTTTCTTAGAGACAAGGTCATGCTTAGTCACCCAGGTTGGAGTGCAGTGGTCCAATCATGGTTCACTGTAATCTTGAACTCCTGGACTCAAGCACTCCTACTGCCACAGCCTTCTGAGCAGCTGAGACTACAGGTGTGTGCCACCATGCCTGGCTAAATATTTTATTTTTCATAGAGACAAGGTCTTACTATGTTACCCAGGCTCTTTTTTTTTTTTTTTGAGCGGAGTCTTGCTCTGTCGTCCTGGGTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTTCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGAT
TGAATTGAACTGGGTTTTAAAAGATGAGCAGAACCGAGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCGCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAATTAGCCGGGCGTGGTGGCAGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAGAATCGCTTGAAACCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCATTGCACTCCAGCCCGGGCGACGAGAGCGATACTCCGTCGCAAAAAAAAAAAAAAACACCAAAAATCAAAACAAAATGAGCAGAGGGTGTACGAAGTGGGAAAGGTCATTCCAGGTGGAGTATGGCAGTAGGAATTTGAAAGTGGGCAGTGGGCTGTGAACCGAAGTGCTTTGGTAAGGCTGGAGAGCTGACTGAAGAGATGGCTTGCTTTGTAGAAGACTTTATTTTCCTTTTTTAAGGAGCTTGGACTTTTTCTTGTGGAGCTAAGGGACACATAAGTAGGAGAATGAGATAAAGTTTTTGTTTGAGAACAACATTCTGGCATCAGTATGAAAGACGAAGTAGAGAAGGAGAAAGTGGAGTGGGTAGATTAGTTGGGGGCTATTGTAGGTTAAGGAAGAAATATGGATAAGGTAGGTGTGGTTGTGATTTTAGATTTTTGGAACCTTCAGGAGTTCTTAGTCATTTATTGGGTGATACAGGTAGGATTTTATTAGGAGAAACTCTTATCTGTGGGGCATTTGCCGACTTTGTAGAATAGTTTATTGAGGTCCTACACTGCTGTAGGACTTAGAGATGAAAGCAGTGAAAAGAAACATACCCTGCCTTTGTGTTGCTTCCTCTGCAGAGGAGACAATAAATAAGTCAAATACATAACTCGTTTAGTAGTGATAAATGCTAAGGAGAAAAATAAAGTATAAATAAACTGGTATATGATCCCTATCACACTAACAGCTTTTTTTTAGGGCAAAGTCTGATGATTAGCTTAGTGATTTCACGCTTTTTAATCTCTGGGATCTTTAGTTTATCCCACAGTTTTTAGTTCTATCTTGAAAGTAACAAAGCAACTGAACATTACCCTGAGAAGGGATTGGGGATGAGGTACTAGGAGTTTTGGTCAAGTGAAAATAAAATCAGTTTCCTCACTGCTAAGTTGTGTTACATGTGACAATTTAAAAATGGAATCTAATAGCCATTCTACCAATGCAAGAAATATTTTAGGCTGAGAGGTTTAAAAACCCAACTTTATTTAGGCTTCTGCCAAATATTTGTATGAACAGATTATTTGTATCTGTTTATTTGAGGGTTTGGTTCAAAAATAAAGGGACATGCTTGAGAAAATATTAATGGTGGTAAGGTTGGCAGAGCATGGCAGGGCTTATTCAGAAGGCATGGTTTGCCCCAGAATATGTATGGAGCCTTGAATTTAGGCATCGCTGTGAACTCTACAGAGCCAAGGCTTTTTTTTTTTTTTTTTTTTTTTGTGAGACAAGGTGTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGAACACAGCTCACTGCAGCCTCAACCTTCCAGGCTCAAGTGATCTTCCCATCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGGGTGCCACCATGCTTGGCTAATTTTTGTATTTTTTTGTAGAGACATGGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTGGGCTCAAGCGATCCACCCATCCTGGCCTTCCAAAGTGCTGGGATTACAGGCCAAGCCACTGTGTTCCCCTAAGACTTTTTAAACTAAACATTTAACTGAAAAGTTTGATGGTTGAGAAATCCCACTTAAATTTAATTCCTTAGTTTCCCATGAGATTGACCTGGTAGGTAATGACCATTGTTTGCTTATTAAGCTTTTCTTTTTCCAATACAGATAACAATGAAGATGGTGCCAAAACTGCTTTCTCCTTTGGTTAAAGATTGGGCTCCCAAAGCATTTATAATTTCCTTTAAGTTGGTGACTGACCCCGCCATTGTAATTAATCGAGCTCGGAAGGCTTTGGAAATTTATCAGCATCAAGTGGTGGTGGCTAATATCCTTGAGTCACGACAGTCCTTTGTGTTTATTGTAACCAAAGACTCGGAAACCAAGTTATTGCTATCAGAGGAAGAAATAGAAAAAGGCGTAGAGATAGAAGAGAAGATAGTGGATAATCTTCAGTCTCGACACACAGCTTTTATAGGTGACAGAAACTGAAGTAAAAAGCCCTTATAGGATCAAAAATTGTTCAGGGCTCTTAGAGATGGTGAAAACTACAAAAAAAACCATGGCTTTCATATGGACAGATAAAATGAAAGAAAGGGAAAAGGCAGTGGTGTGTAGGCAAATATGGTTTGGCATTTGTCTTTTAATGACACCTGATATGATGTCATTTTGATTTTGAAATTGAACACTAGAACTGTTAATCACCTTTAAAAAGAAGAGCTTATTGGGAATTATATATTCCTTAAAATATACATGGGGGCCTGAATGTCAGCCATCTTTATACTATAGAAAAAGGATTATGGATGCATGAATGGTCATGCTTTGGAGATCAAATATTGGTTGAATGCCTATGTATGTCAGGCCCTGTGCTGAGCCATGAGGATTAAAAAGATGAATAAACATATCTTGTTTAGGAAATGGATGTATAAAAAAATCAAGTGCAATAAAGTGTGTGTCCAAAAGCTGACACAATGGAAAGGATGTTTTGTTTTGTTTGAAATTTATCAAATATAGTAGTAGGAAAGAAGGATACCTCCCTGAAGATAGATTGTAGAATGGTGAGCTTTTCACTGCATTTACTTTTTGCTTCTTATTGTAGATTCACCTCATGTTTGGGTAATAGTTTACATTTCAAGTATTTTAGGACTGCTTTTCAGTTTAACTTAATATGTCCTTCCACCTGGGACCAGGCAGGGGCCACTTGGTGATCTCTGTCCTGAGGGATGCATTACAGTGTGGTAGAGTATGGGCTAGAAGTCAACTTAGCCAGCTGTGCCACCTATTAGCTTTATAAACTTAGGCATTTGACTTAATCTCAGTGTCCACATGCATAAAATGAGGATAATCTCTCTGCAAAGTAATGCCATTTATTGTGAGGATCAAATGAAATAGCAAAAAGAAAGCATCAGTCTGGTGCCTAGCATTTGATTCACACTCACTAAATGGTTGCAATTATTGTTTTTCTCACTTAGCAAAGCAGTGTTACACCACTGCCCTGCTTAATCTTTGAATCCTTGAGAATCTTTGAAAAACTTTCAATACTTCTCTTGCTGTCCTACGTTTTGGGTTTGGAGTGCACAAGTAGCATAGTGCAAAAAAATTCCCTAAATGATCTGTAGGATAGTCCAGGTGCAATTTGAAAAATTAGCATTGATGACTAAGGTAGAAGCAGGTACTGTGTTTCACATAAATATTTGACTTAAAATACAATTCATGGTGTTTCATGGAGTAGGGAAGGGTAGCCCCTGTGTCTGTCTGATAATAGAAGTACAATAAATTTAATTGAGAAGATTTGACAGAAATTCTAAGACTGAAATACTTCATTAATCAGGAAATGTGACCTTGAACAGAGGAAAAATACTGCAGCAGTCAAGACTGTTCTGGAAGCAGCAGTCCCTTTGAACAAAAAAATTTTCTTAGAGACAAGGTCATGCTTAGTCACCCAGGTTGGAGTGCAGTGGTCCAATCATGGTTCACTGTAATCTTGAACTCCTGGACTCAAGCACTCCTACTGCCACAGCCTTCTGAGCAGCTGAGACTACAGGTGTGTGCCACCATGCCTGGCTAAATATTTTATTTTTCATAGAGACAAGGTCTTACTATGTTACCCAGGCTCTTTTTTTTTTTTTTTGAGCGGAGTCTTGCTCTGTCGTCCTGGGTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCTGCCTCCCGGGTTCACACCATTCTCCTTCCTCAGCCTCCCTAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGCATTTTTAGTAGAGAT
Task1_train_714
This variant lies on Chromosome 1 and affects the gene CLDN19 (claudin 19). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Renal hypomagnesemia 5 with ocular involvement
CCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCA
CCCTGCCATGTTTTTTCCCAGTCACATTCTGGCCCACAGAACTCCCAGCCAAGACTGCTCCCGCTGCCCTCTGGAGAAGGCCAGACCCTTCCACCTGGCACTCTGGGCTCTCCACACCCAGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACATGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCA
Task1_train_715
Mutation context: Chromosome 1, Gene CLDN19 (claudin 19). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Renal hypomagnesemia 5 with ocular involvement
AGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGT
AGACCCTGCTGGCCAGGCCAGCCCTGCTCCTGGTTCTCACTGCCTTGGTGCCTTTGCACAAGGCACCCCCAGCTGGGGCACCAAGCCCCCCAGCCCACCACTCCTGTGCCTCCCCTGTTCCTTCTCTGCCTTCAGAGCCCAGTTCAGATGCCACCTCTTCGTGGGGTCTTTCCTTGACATCCTCTGTGTTCACCCCGCCCCTTGCGCCGACTCCACTACCATGCTTTCTCCAGGAGGCCTCAGCCCCTTGCTTGTCCGGCTCCCTGGGAAGCCCCTTGAGGGCAGACAGAGCCATCAGTGTCCCCAGGACCCAGCACAGGGCCTGGCAGCCCAAGTGGCATTGGGGACTGTTGAAGGGATCGGGGGCCGAGTCCTATCCTGACATGCCTGAGCTGGACCTTGCTTGGCAGACTTTGTGGCTGCAGCCACCACCCAGGGAACAAACCTTGTACCTGAGATCTCCTCCCTCCCCTTGCCTCTCAACACCTCTGCCTCCTCCAGGCATCCCTCCCGATTGCAAAAGCCCAGACATCTTTTCTCATCCTCTCTCCACCCCAAGGCCCAAAGCCCATTGGGATGTCTAGGGTTAAGACTGTCCCATTCTCTGCTCCTGGCTAGGCTGAGAAGTGAGGGAGGAGCCAAGGTGGGCCCAGGCCCTTTGCAGAGCATCCCCTTCAGTTCCCATGCCCACAGTCTTACAAGTCCTGGTTATCTCCTGAATATCAGCCTGCTTTCCACTGCTCCCTCCCTGTTGCCCCAAACTCTCTGCTCAGACCTTTGGGACAGCCGCCTTCCTGGTGTCACTCCCTCCCCACCATTCTGCACATCACAGCCAGAAGGACTGCCGCTGCCTCCACCCAAATGAGGAACAAAATCTTCCTGTGGTTGCAAGGCCCTCCACGATCTGCCCTTATTCTCAAGTTTCTTCCTGGCCCAGAATAACTGCTGCCTCCTGCAGGAAGTCATCTCAGCCCTGCTGCCACCAGCAGAAATGAAAACAGCTCAGGCTTGCTGGGTACTGTCCAGGGCCCGGGCACGGTGCCACACCCTCACCTGCATCCTGCTGGATCCTGACAACCATGTGTGAACTGGTGCTCAGGTTCTAGCTCCATTTCACAGAGGAGGAAACTAGGCACAGAAAGATTAAGTAACTTGCCCAGGTGACACAGTGCATGCAAAGCTGGGATTGATTGATCGTTTGATTTTTTTGAGACAAAATCTCACTCTGTCACCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCATTGCAACTTTTGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCGGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGT
Task1_train_716
Here is a mutation in CLDN19 (claudin 19) on Chromosome 1. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
Pathogenic; not provided
CTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAA
CTGCCTCTGCCTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCATGCCCAGATATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACTGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAA
Task1_train_717
Consider a variant on Chromosome 1 in gene CLDN19 (claudin 19). Determine its clinical classification and disease relevance.
Pathogenic; Renal hypomagnesemia 5 with ocular involvement
TATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTGGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAATAGACCCCCAGCCAGGAAACAGCAGGAAGGGCTTTCCGCTTGAAACTGTGTGGT
TATTTTTTGTATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCATCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCAGAGCTGGGATTGAAACCCAGAGCCAGGGCACTTAGGTCCTTAGAGAGTCCTTGCTGCACCTGGGTGCCCATCACAGGCCTCCCGCCCCTATGGAGGGCCCCACCACACTCCTCCTGGCGCCCCCCTTTAAAGCTTCTTGGACAGCAGCTGGATCCTGTCCCCACTTCCCCCGCCAGGTGATCCAGTGGACAAAGGTCAGTGGCCCCAGAGGAGGTAAAGCAAAAGACCCAAGCCCTGGCACCCACCTGGCATTGACAGGTGTGCTTGGGTTGAAGAACTCCTGGGTCACCAGGGTGGCATACCACGAGACAGCAGTCAAAGTGCAGAGGCCTAAAGACAAAGCAGAGGGGCGCTCAGCTCTGCTCTGGCCCCCCGAGGCCACTGGGGCTGGGGCTGCCTGCCATGGTTGTGATTGTGCAGGAGTGAGGGGCACTCACCTGCCAGGATGAAGAGGGCTCCCCCGGCGATGGCAACACGGCCCTTGGCAATGGGGTTGCTGTCTCCCACCCGCGTACACTTCATGCCAACTACGCTGAGGACCATGGCCACGAAGCCCAGGAGCACGGCCACCACCATCAGGGCCCGCGCTGATTGGATGTGACCTAGGGTGGGCGGGATGACACTGAGTCGGGCTGGCGGGGATGGGGGTTGGGTCGGTGCCTGGGGTCGGTGGAAGGAGCCCAGCTTGAGAGGGGCTTGAGCAGGAGCTGGCCTGGGGGGTCAGACCACCTTCTGGCAGGTGCAGGATAGTGAGGAGTGACAGCCCGGGCATGAGGACAGGGTGTGGGGGTGAGAGTCCCCTTCACTGTCAACGCCATTCTCCACTCGCCCTTGCAGGCTTTTCCGGTAGTATGATTCACTCTGCTGTTGCTTTCTGGCCTGGGGACTCCCTCTTGGGCTTGGCCCATCCTCCCAAGCAGCTGAGGGCAGCTCCAGGGTCCCCTCAGGTTTGGTAGGTGGAAGAGCTGGGGGTATCTGAGGCCCAGCTCAACTCAGCCTGAGCCCCGCAGCAACCCCTCCCCAGCAGCCATTCAGACAACAGTCACTTTCCCCTCTGCCCATGGCAGCTGGAAGCTTGCCTCTTCACGGGTGCATGGGTCCATCCTGGGCCCTGGGGGGTGCTCAGGAGACCTGGGTCCCTCAGCGAGGCTAGATGACCTGCCTGAACTGACCTGCCTGAACTGGCACAATGGGGCTGGTTGAAGGCCGCTCTGCTCCCAGCTCCCATGGGGAGCAGATTGTCCCTGGGGGCTCCTGGGCAGATTGCAGGTGGATCACCTCCACCCCAGAGTTAGAACTTCGGCGGTGCCTGTCAGGCTCATCTCCACACCCCAGAAGGAGAGGGACTGCATGCAGACACACCTGTCTGTGCATGCATGTGCACGTGTGTGCGTGTGCATGCGTGTTTGCATGCATGTGCATGCACCCATATGCTGGCACACAGGCCTGGGAGCAGGACTAGGGAGCAGGTGTGCATCATACAGTGTGTGTCTGTCTACTGACTGTGGGGAGAAGTGGATGAAGGGTCTTAACTGAGTCTTTCAGAGTGCCACAGGTATTAGTATTCCCCTTTAGAGATGAGAACATCACAATGGGAAGAGGTTTGGTGACTAGTTCAAAGTTATAGTGACAGAGCAGGAATCTGGACCCACAGCCGCCAGACCCTAGAGCCCTCCCCTCCCACAGGGCAGCAGGCTGGCCTGGACCGTCAATGGGCACAGGGCAGTAGTGGGGGAATTGTAGAGCGGAGGCTGGAGGTTGGAGCCCAGCGCAGATAGCAGACTGTGAGGAAAACTTGCTCCAGACTCCCCTGCTGTTCCCACCTCCCATCTCCCACCCCGCCGGCCTGGGGCCTACCGTCCAGGGCGAGCAGCGAGTCGTAGAGCTTGCACTGCACTTGCCCAGTGCTCTCGGAGGCGCAGGACATCCAGAGCCCTTCATAGAGGCCCACGGCAGTGATGATGGCGTCGCCTGCGTAGGAAGACTGCTTCCACTGTGGCAGGGCTGTGCTAGCAATGATGCCCACCCAGCCACCCAGGGCCAAGAAGTAGCCCAGGAGCTGGAGGCCTGAGTTGGCCATGGCCCAGGAGAGAGGACCGAGGGTCCCAGGACTCAGAGCTGGGCCAGGGTGCCAGCAGGGGCTTTGGTCATGGCCAGGTGGGAGGAGCAGCTGGGCAGGGGGAGCAGCGAGAAGGAGGGTCAGAGGCAGAGAAGGAGAGGTGGTGCGGCGGCAGCGGCTGGAGCAAAGGCAGTGGCTCTGGACTCCAGAATGCAGGGGGAGGCCCAGGGGCTGGAAAAGGCCAGGGCCCGCCCACAGCAGCCGCCTAAGCCAGAGCAGGGTCCCCAGCAAAGCTCATGCCCAGCCCCCTGGGGGCGGAGGGCCGGCCCATGGCCCAGGTGGTGTCCCTGCCCCGCCCCGTTCCGCAGGGATAGGGAAGGGAGGGGCTGAGAGGAATGACCCAGCTGCCCTCTGGGCCTTTCCCCACAGGGAAACCCCTTTAGGAACCTGATTCGGGTGTCCTAAAATTCGGATAATCCCTAACCCAAACACCAGCCCTGGGAGGATGGACTTTGCTCTTGCAAGGCTGATCTAACCCTTGGGGTTTTCTGCCCTTTGACTTTAGGACAGAAGGGAAAGGAATGCCAGTTTGCAGCGGGTAAAACTAGAGTTAGATGTCAAGGATAACTTTTTGGCAGGGGCTCTGAAGCTGGATGTGGGGAGGCTGAGCTAGCGGTGGGGTGTTGGGAAGAGGGGTCATGGGTACCTGGGAGCTGTGTGTGCCAAAAATCAGGGAGGCCAGACCAGGAAATATGTACTGTGGGGTCTTTTTGAGATCTGAGGGGGACAGAAAAGGGGCCCTATCGAGGCTGGGCCAGCGCTGGCTGCCGGCCAGCAAGGGGCCTGGTGGGGAGCTGGGGAGACAGCCCCAACCTTCTGGCATCAGCCTGAAGGAAGGCGGATTGCTCAGCCCCTTAATCCCCTTGCTGGCTGGCTTAGTAGCTCCTGCTGGGACTGGAACACTGGGCCCTGGCCCCCAACTCTAGAGCAGCCTGGCGCGGAGCAGTGGCCTCTGCACATTCCCGGGGTTCAGGCTGCCCGCTCCGAGCACCCCCACCTCCCTCTTCTCTCTCCCAGTCTCTCTTGGTCTTCAGGAGTAGGGGAATGTTTAACTCTCTTCCACCTCATTAGCAATCCCCTCACGTTCAAGTGGGCCCCACTGCAGCGTGGGTGCAGAAGGAATGTCACAACCCTGCTTCCACTCCTGCCAGCCCCCCGCCGCCCCCTCCGTCCCCAACAGCCCACCCACCCTTCCTGGACTGCACTGGGGGAAGGCAGGGTCCTGCTGCAGACCCCTGCTGGCTTCCTCCCCCACAGCCCCAACCCCCCTCTGAAGGGACAAGTCCCCAGCCCGCTCTTGCATTCTTCACGTGGCTATGCAAACGAGAGGGTGCCAGGCGCTGAGCAGACAATGGCAGCCCTGTGTGCCCGCCCAGGGCGTAGGCCTCTGGTATGGCCTGCAGCTCTGGCCAGAGATGGGGGAGTGGTCTGCCATCTGAGGGTCAAGGGTGGGCACTGCTTGACCTGTGGTGGTGCACACTGGGACCCTCAGGCTCTCTGTGCTGGGAGGGTCAGAGCCACGTGGATCCGAGCACACACAGACCTGCTTCCTGGACGACCTGTGGGTCCCAAGACCAAATGGGGTCTAGGACAGTGGCAGAGAAGTAAGTCCTGAGCTCAGATTCTTCTACCACAATGACAAGACAGTAGGATTGAGGGGAGCCTCCTCCATCCTACTGGGGCCGCAATGGGCACCCTGTGACCAGTGCATTAATTTAAGCATGTGGGCCACTGTTGCAGGCAGCAGGCCTCCTAACAGTAAGGAGACCACGGCAGAGGGAGGTAATAGACCCCCAGCCAGGAAACAGCAGGAAGGGCTTTCCGCTTGAAACTGTGTGGT
Task1_train_718
Gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; Encephalopathy due to GLUT1 deficiency
CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGAGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
Task1_train_719
This sequence change occurs on Chromosome 1, altering SLC2A1 (solute carrier family 2 member 1). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
CCCCCGCACCCCCTCCCGCACGGGGACCCGGATAACTCCTTTCAACAGAAGTCTTTTGGGAGCACACGATAAGGCTTCCTTTCATCTGGCCTCAGCCCTTCACCAGTTAACCGCCCTGTCCCCAGGCTCAGGCAGGGCATATTCTTCGCAACCTGCTCTTCTTTGTTGAGATGCAGATGGATGTCCTCATAGATTCTTTATACCTAATGGTAATACATATAGGTATTTCCATTTGCTAAGTACCAGTTTTCCTTTCTCACACCCTTCTTACAACCCCTCTTCATGTCAGGGAGAAAAAAGCCTGCCTGTAGTTACAAAAGCAAACTTCTCCCAGATTTTGTCAGCTGAGCCTCTAGAGACAAATATCTTTGGTGTTTTATTTCCTCCAGTATTTTCTGAGTGCCTGCTGTGCATCAAGCACTGTACTGAATAGTGCTGAGGACCCACAGGAACCAAATCGGCATCTTCTCATGAAATTCAGACTAGTGGCAGAAAACTGGACTTGTGATGAAGGAGCAGATGAAGTGCTCTGGAAATTCAGGGGTGAAGGAGGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGAGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAG
Task1_train_720
A variant affecting Chromosome 1, within the gene SLC2A1 (solute carrier family 2 member 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
GGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGG
GGAGGATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGTAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGG
Task1_train_721
This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Encephalopathy due to GLUT1 deficiency
ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCGCATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
Task1_train_722
The following genetic variant occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Classify its clinical effect — pathogenic or benign — and list any associated condition.
Pathogenic; not specified
ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
ATGAGCTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCGCATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGC
Task1_train_723
This mutation is located in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is it associated with a disease or is it a benign polymorphism?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAAC
CTGTCTTTAGAGATGAAGCAGTAGTATACAGAGGAACCAGAGGGGGCAATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGTCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAAC
Task1_train_724
The gene SLC2A1 (solute carrier family 2 member 1) is located on Chromosome 1, where a mutation has occurred. What is the medical relevance of this mutation?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
ATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCT
ATTCCAAATGAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGACAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCT
Task1_train_725
This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGAAGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
Task1_train_726
This mutation occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Encephalopathy due to GLUT1 deficiency
GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
GAAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGAAGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATC
Task1_train_727
Given this variant in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Inborn genetic diseases
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
Task1_train_728
A sequence alteration has been identified in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
Task1_train_729
Consider a variant on Chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1). Determine its clinical classification and disease relevance.
Pathogenic; Encephalopathy due to GLUT1 deficiency
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
Task1_train_730
This variant affects gene SLC2A1 (solute carrier family 2 member 1) located on Chromosome 1. Evaluate its biological effect and specify any disease association.
Pathogenic; Dystonia 9
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
AAATGAACACAGGGCAGCTTGACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACATGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCT
Task1_train_731
The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; not provided
ACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGT
ACAGCTCATTGGGCCCATACAAAGAACGTGGTTCATTTTGTGTGTGTGGGGAGGGGTGCAGGAGGTGGGTGGAGTTAATGGAGTAGTGGTTGTATGGTACCATTGTTAAAAGCAGGTGTTTTAGCTTATTCACTGTGCGACTTCAGGCACATAACCTCTTTGAGCCTGTCCAATAAAGGTACAGTATTTACTTCACATTCAAAATAATGCATTTCAAGCCTGAGCATCACGGCTGGCACAAAACTAGTGTTTTTTTGAACACCAACTATCAAATATGTGATAGAAATGCCTTGAATGTCAAGATAAAGAATGTATATATTCTCTGGGTAACAGGGATCAAACAGATTTTTGAGCAAGAGGACACTGATGAGAGGTACGTGTAAGGGACTGGATCCTGAGTCGAAGTCTAAGCCGTTGCAGTGGTTGCAACCCCACTTACTTCTGTCTCACTCCCATCCAAACCTCCTACCCTCAATCCACAAGCATTTCAAAACCATGTTTCTAAAAACCAGCCATTTATATCTGTTTAGGTAAGTAACAGGAGTGAGGTGGTGTATTTACAAGTTGGCTTGTCCAGATATACTATAACTTAGTGTCTGTATTTAATATTGACAACCAAAAATATATATAAATATCTTGCATCTATACACAACAGGGCAGGAGTCTCCATGTCTTCTTGAGCAGTGAGTTTGCAGGCTCCCACAGGCCCTCTTCTCATGGTAATAGTGTGGCCCTCAGTGCAAAGGAGACTAGAACCCGGCAGCCCAGACTGGCCCTTCCCCTCTCCTCCCTGCACTCCAGTGCTCCCAACTGGTCTCAGGTAAAGAAAGATTAATTTGAGTGGTTGGGTAGGAAGAGATGGGAAGGGGCAAATCCTAATGGAGCCTGACCCCTAGAGTGGGGAGATCCAGGCCAGCAGAACGGGTGGCCATAGCCACCTCCTGGGATAGAAGCTTTGTAGTTCATAGTTCGATTAGTGTGTCCTTAGGACATAGGTCCAGCCCTACAGATTAGCTGGGTGAAGAAGGCAAGTGTCTCGACAGGGCTTAGTCTCCACCCTCAGGCATGGAACCATTCAGGGTGAAGCCTGGGATGTGGGCACAGGAGACTCAGGCTGATATAAAAATAACAAAATCAGTAATAAAAAAATTATAAAACCTGTTGCTTGTCTGAATAGATTTGAGCAACAGTCTTGCTTTTGTTAAAATCCTGGAGCCGTTAAGTCCTGAATATTCTTCTGGACATCATTGCTGGCTGGAGAAAGGAGCCCCAGGCCCGGCTCGGCTGACATCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTTAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGT
Task1_train_732
Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Self-limited epilepsy with centrotemporal spikes
TCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTT
TCTGTCAGGTTTGGAAGTCTCATCCAGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGAGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTT
Task1_train_733
This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
AGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAG
AGCTGCCTGTGCTCCTGAGAGATCCTTAGGGCTGCTGGGAGCAGGCCGGGCTGGTGATCTGGGGCGACTCACACTTGGGAATCAGCCCCCAGGGGATGGAACAGCTCCTCGGGTGTCTTGTCACTTTGGCTGGCTCCCCCCTGCCGGAAGCCGGAAGCGATCTCATCGAAGGTCCGGCCTTTAGTCTCAGGAACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTGCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAG
Task1_train_734
A variant affecting Chromosome 1, within the gene SLC2A1 (solute carrier family 2 member 1), has been observed. Determine if it's benign or associated with disease.
Pathogenic; not provided
AACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCT
AACTTTGAAGTAGGTGAAGATGAAGAACAGAACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGGCACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCT
Task1_train_735
Given this variant in gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
Pathogenic; Dystonia 9
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACTGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
Task1_train_736
A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Encephalopathy due to GLUT1 deficiency
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACTGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
Task1_train_737
A mutation found in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
AACCAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACTGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCT
Task1_train_738
This variant lies on Chromosome 1 and affects the gene SLC2A1 (solute carrier family 2 member 1). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAG
CAGGAGCACAGTGAAGATGATGAAGACGTAGGGACCACACAGTTGCTGAAAGACACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGGGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAG
Task1_train_739
The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
Pathogenic; Encephalopathy due to GLUT1 deficiency
CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCATGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
Task1_train_740
Consider this mutation in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; GLUT1 deficiency syndrome
CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCATGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
Task1_train_741
This is a variant in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
CACACAGACACACTTGGTTGGAGTCATGACCCTACATCCTGGCTGTAGGACTTTGGATAAGTCACTTTACCTTTGGGCCTTTGAGCTGAAAAGGGAACATCCACCTACCCAGGGATGCTATCATAATTAACTGAGACCACGCTTGTACCTAGAATGTAACAGGCTCCAGGAGCACCATTCAAGGCTAAGGGGAGAACCCTGGAGTTGAGGTCAGCATTCTTGGTCATGTGACCTGGGCTTCCTACCCTCAGTTTCCTCCTCAGCATGATTCCTAATGAGAATGCTGGGCCAGCACTTTGCACAGCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCATGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAG
Task1_train_742
A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; Intellectual disability
GCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGA
GCACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGAGGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGA
Task1_train_743
A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; not provided
ACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAA
ACTGTGGGGTCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGTCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAA
Task1_train_744
A genomic change on Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; not provided
TCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTC
TCATGCGTGCGGGTGAGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCCGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTC
Task1_train_745
Given a variant located on Chromosome 1 and affecting SLC2A1 (solute carrier family 2 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
AGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAA
AGTATAGAGACAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCGGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAA
Task1_train_746
This alteration occurs within gene SLC2A1 (solute carrier family 2 member 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Encephalopathy due to GLUT1 deficiency
CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGTGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
Task1_train_747
A genetic alteration is present in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this variant benign or disease-causing, and if the latter, which condition is involved?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
CAGTGGGGGTTCTCACCTCCACATACTGGAAGCACATGCCCACAATGAAATTTGAGGTCCAGTTGGAGAAGCCTGCAACGGCAATGGCAGCTGGACGTGGACCCTGGCTGAAGAGTTCAGCCACGATGAACCATGGGATGGGGCCAGGACCCACTTCAAAGAAGGCCACAAAGCCAAAGATGGCCACGATGCTCAGATAGGACATCCAGGGTAGCTGCTCCTGTTGAGGATGACGGAGAGGGGGAAAAGTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGTGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGC
Task1_train_748
Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Hereditary cryohydrocytosis with reduced stomatin
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
Task1_train_749
The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 12
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
Task1_train_750
Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Dystonia 9
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
Task1_train_751
Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Encephalopathy due to GLUT1 deficiency
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
Task1_train_752
Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
Task1_train_753
The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
Task1_train_754
The variant affects gene SLC2A1 (solute carrier family 2 member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; Encephalopathy due to GLUT1 deficiency
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
GTTAGACTGGGTTGTGATGGATCCTCAGGGGAAACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCAGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCAT
Task1_train_755
This genomic variant is located on Chromosome 1, within the SLC2A1 (solute carrier family 2 member 1) gene. Can you determine its pathogenicity and name any linked disease?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCAGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
Task1_train_756
Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Encephalopathy due to GLUT1 deficiency
ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
ACAGAAGCTACAGAGGCCAGAGCAGAGCTATGCGAGAAGGCAGGAAGCCTGGGGATGGTCCTGGATTTGTTGTGTATCCAGCATTGGGCCTAAGTTTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCAGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGA
Task1_train_757
Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
TTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTT
TTCCTCATCCGAACAAAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCTTGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTT
Task1_train_758
A genomic change on Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Dystonia 9
AAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAA
AAATGATTTAAGTCCTGCAGGGTGGCTGCAAGTGTTGAGTCCACCCGCTGGGAGTGGTAATGTGGTGTGCATGTGGACGGTGCTAAGAGGCCCCATGGTCCCCTGTCTGTGCCTGCAGCACAGTCCGCCTGTGGCAGGATGCAGAACATTCCTGGGGGTGGGGTGGATTCAGGTTCTAAGGCGTGTGAGGTGCCCAGCTCAGGCTGGCACAGAGTAAGCGCTAAGCATACGGTTCTGCATATAACCATTCTTGAGGAGGCCAGGGTAGAAAATTTATGGGCTTTCCACTTGCTGCCTGTCTGGCCTTTCGGCAACCACCAAACTTTCCAAGCCCAGGTTGAGCTGTAAAATGACAGTCATGGTGCTTTCCTTGCCCAGAGGCTAAATAAACGAGTGCCTGTGTGTGAGTGCCAGGCACAGGGTTAGCACAGCGGTCACAGTCACAGGCCTGGGACTGAGGTTGATTCCTGGCTTCATCCTTTATCTGACAAGTTACTAACCTCACTGGGACTTAAGCTTCCTCCCCCATAAAATGGGAAGAACTGAACTACACCTCCAGTCGTGTGAACTGAATGAGGCAAGGCATGTTTCTGCGCCTCTATGGGGAGGACAGCACTACTTCCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGACGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAA
Task1_train_759
Assess the clinical impact of this variant on gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1. State whether it’s pathogenic or benign, and the disease if applicable.
Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGATGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
Task1_train_760
The gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGATGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
Task1_train_761
This is a variant in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1. Is this mutation a likely cause of disease or not?
Pathogenic; Encephalopathy due to GLUT1 deficiency
CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
CCCGGGGTTGCTGTGAAGATGAATTGAGGCTACAGATGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGATGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAG
Task1_train_762
A variant found in Chromosome 1 affects SLC2A1 (solute carrier family 2 member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
TGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCA
TGAAGATTGGAAAGGGTTAATATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACAAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCA
Task1_train_763
Gene SLC2A1 (solute carrier family 2 member 1), found on Chromosome 1, is impacted by this variant. What is the biological outcome — benign or pathogenic?
Pathogenic; not provided
ATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTAT
ATTAGGCAAAGCAATTCCTTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTTACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTAT
Task1_train_764
A mutation on Chromosome 1 affecting SLC2A1 (solute carrier family 2 member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCAGGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
Task1_train_765
This mutation occurs in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Does this change lead to a known medical condition, or is it benign?
Pathogenic; Encephalopathy due to GLUT1 deficiency
TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCATGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
Task1_train_766
A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
TTAAGGAGGTGAGAGTTTGGGGTCTGGGACCAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCATGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTG
Task1_train_767
A mutation found in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACAGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
Task1_train_768
Here is a genetic alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; not provided
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACGGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
Task1_train_769
Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Encephalopathy due to GLUT1 deficiency
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACTGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
Task1_train_770
With a mutation on Chromosome 1 in gene SLC2A1 (solute carrier family 2 member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACTGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
Task1_train_771
Given this context: Chromosome 1, gene SLC2A1 (solute carrier family 2 member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; GLUT1 deficiency syndrome
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
CAGAGGTGCTGCGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACTGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTG
Task1_train_772
A mutation in SLC2A1 (solute carrier family 2 member 1), located on Chromosome 1, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
CGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCC
CGCTGAGAATCCATCAAGCAGGGAGGAGCAAGTTCAAGAGAGGATGTGTGTGGTTTGGAAGGAGACAACTTCAGGAGCCAGAAAGTCAGACCCACAGCCAGGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGAGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCC
Task1_train_773
This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
Task1_train_774
Given a variant located on Chromosome 1 and affecting SLC2A1 (solute carrier family 2 member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
Pathogenic; Seizure
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
Task1_train_775
Located on Chromosome 1, this mutation impacts SLC2A1 (solute carrier family 2 member 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
Pathogenic; Encephalopathy due to GLUT1 deficiency
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
Task1_train_776
Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; SLC2A1-related disorder
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
GGGAGAATGCAGCCACCAAAAGGCCTGCCAGCCTGGGGCTGAGACAGGCATTTTGGGATATGAAGCCCAGGCAAACTCTCCCGCATCCCTCACTCTCCAGAACCTAGCAACTCACCAGCAGTGCTAGCGCGATGGTCATGAGTATGGCACAACCCGCCATGCCAGCGAGGCCTATGAGGTGCAGGGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCACCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGA
Task1_train_777
Mutation context: Chromosome 1, Gene SLC2A1 (solute carrier family 2 member 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Encephalopathy due to GLUT1 deficiency
GGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACA
GGTCCGCCGGCCTGCTCGCTCCACCACAAACAGCTGTGGGCAGAGACAGTGTCAGTGCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGTCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACA
Task1_train_778
A variant was discovered on Chromosome 1, affecting SLC2A1 (solute carrier family 2 member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
GCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGAAAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACATTAGCAGGAGCTGCTTCACAGTGCTGCAGGGAATCAGTGAAACAGTGCTTGGTGTC
GCCACCCCTGCCTAGTGCCCTTCTGAACCCACCCACCCAGAGGCCTTGCCTCAAGAGCTGAGAAAGTCACAGGGCACTGCAAAGACCAGTGGGGAAGATGGCACTGCCTCCTCCCTGGGGTTTGGCTGGGGGGGCCAGTAAGCAAAGACTCACCGACACGACAGTGAAGGCCGTGTTGACGATACCGGAGCCAATGGTGGCATACACAGGCTGCTGCACCCCCGCCTTCTCGAAGATGCTCGTGGAGTAATAGAAGACCTGCCAGACAAGAGAAACTGTTGGGGCCTACCTGGACATTGTGGCCCTTCCCTGCCTCTGTAGCAGTGGATGTGGGACCCAGGATGAGTAAAGAATGAAGGGGACAAATACTCAGGCAGAAGGGACACTGCACTGCAGTGACCTTACGGGCTTGGGGTCTAAAGGGAAACTTCTTCGGCAGAGGCGTATCTGTTGTTTCAAGTTTGGGACTTGTTCACCATGCACACTTGACCAGAGGGCTTGGCTGGGGCACAGGAAGGGTGGGTGGGGGCACTCACAGCGTTGATGCCAGACAGCTGCTGGGACAGCTGCAGCACCACAGCGATGAGGATGGGCTGGCGGTAGGCGGGGGAGCGGAACAGCTCCAGGATGGTGACCTTCTTCTCCCGCATCATCTGCCGACTCTCTTCCTTCATCTCCTGCAGGTCATGGGTCACGTCAGCTGTCCCGCGCAGCTTCTTTAGCACTGGGGGGACCGGAGGGAAGGTGAGGGTGGCTCAGAGTGGGAAGAAGGCCAGGGCTCAGGGAGTGGGGAGGAGGGCAGGGCCATGCCCGTACCACTCTTGGCCCGGTTCTCCTCGTTGCGGTTGATGAGCAGGAAGCGGGGACTCTCGGGGCAGAAGGGCAGCACGATGCACTGCAGCAGGGCCGGGATGAAGATGATGCTCAGCAGCAGGGGCCACAGGTCCTTGTTGCCCATGATGGAGTCCAGGCCGAACACCTGGGGGAAGCAGGGGCCGTGAGCGCCTCTGCCCTGACCCCCTTTCCCACCCCGTCCTGCCAGAGTGGCCTTCCCTACTTTGTGTCAGCTGCTGCTTCAGGGAAGGGCCCCAGTTCTAGAGGCTCTGCCACTAGCATGAGCCCTGTTTCTCAGTTTCCTCATCGGTCACATGGGAAAAGTAGGACCTACCCCACAGTGTTGCTGGGAGGACAAATGACAAGGCCACAGATGTGTCCAGCACAGAGAATGGGGGCTGCTACTCTGCCACAAGAGGGTTTTGGGGACAGGGAAGGGGAAGCCTCCTGGAGAGAGGGTACTGTGCATAACAGCCTGCGGCATGTTGGGGGAAGGCGGGCCCTGTGGTTGGAAGCCTAGAGTGAGAAGAAAGGGACTGAGAAGAGTCAAGTCATCTTGCTGTCAACTGGGAGGCCATGGTGCTGTGTTCTCTGGACCTGTGTACCATAGTTGTCCTCTGCAAGGCTGTGGGGGCTGGGCGGAAGAGAAACTCTGCCCTGCTGGGCACAGATCCGAGAGCCACTGAAGCTGTGGGCAGGGGCCGTGCCAGGCAGGTAGATCCTGCCCCAGCTTACCTGGGCGATGAGGATGCCGACGACGATGCCCAGCTGGTGCAGGGTGCCCAGGGCCCCACGAAGGGCTGTGGGTGACACTTCACCCACATACATGGGCACGAAGCCTGTGGTCAGGCCGCAGTACACACCGATGATGAAGCGGCCCAGGATCAGCATCTCAAAGGACTTGCCCAGTTTCGAGAAGCCCATGAGCACGGCGGACACGAAGGCCAGCAGGTTCATCATCAGCATTGAATTCCGCCTGGGGACGGGGTCACAGGTCAGGCCAGTGCCCACATTCCTTGGGCTCCGAGGGGCTGGGTCAGAGGTAATACCCTGGAACAGGCAGATAAGTCTCCCCTACCTCCCACCCCATCTGGGACTCCCTGGGCAGGAGGGCATGGGCCCTCCAAGGGCAGTGCCAGGACCTCTCCTACTTACCGGCCAAAGCGGTTAACGAAAAGGCCCACAGAGAAGGAGCCAATCATGCCCCCAACAGACAAGATGGCCACTGAGAGGGACCAGAGCGTGGTGAGCGTGGTGGGCAGGATGCTCTCCCCATAGCGGTGGACCCATGTCTGGTTGTAGAACTCCTCGATCACCTGCAGGGGGAGATGCAGCCTGGGTGAGCAAGCCAGGGGCCAGGACCCAGTCTTCCTTTTCCTTTCCCCTTGCACCCCTCCCTAAGAGAGGGCCAGGGCCTGGCTCTGCCACAGATTCACTGCATGTTCTTGAGCCAAGTCCCTCTATTTTTGTGGGCCTCACTTTCCCCAGGCGAGAAACAAGGGGTTGGAGTTCATCTGAGAGCCCCGCCAACTCTCCCACTTCCCCTAACGTGTGGTTTCCAGTGCCCTGTGGTTTCACAGGCTCAGTGTGACTTGCTGGGATGATGGCAAGTGATCAGTGGTGGAAGTTCAGGCATAGAACAGAGAGGTACAAGACCAGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGATCAAGGCAAGCAGATCACTGGAGATCAGGAGTTCGAGACCAGCCAGACCAACATGGTGAAACCCTATCTCTACTAAAAATAAAAAAAAAATTAGCTGGACGTGGTGGCGCAAGCATGTAATCCCAGCTACACGGGAGGCTAAGGCAGAATTGCTTAAACCCAGGACACGGAGTTTGCAGTGAGCCAAGACTGTGCCACTGCACTTCAGCCTGAGTGACAGAGTGAGACTCTATGTCTCAAAAAAAAAAAAAAAAAAAGAGAAATACAGAAGGAAAAGGGTCTTCCCACTTGCCCCTTTTCTCCTCACCATGTCTCAAAGCCCCAGGGGCCCATCTCCTGCCATCAGGCCCTCCCCCCAACCCCTTGCTGGGGAGGAAGCAGGGCTTGACAGACAGGTTCCGCCATCCAGGAAGTACAGACTCCCTGACCGCACTGAGGGCCTGGTGTGACAAACTCACACATGTCACCCTTCAGAAGTGCTTGAAAGACTCACGCTGTGGCTTTCTGTTCCCCAGGCCTAGCTCCCTTGTGTCTGGCCTGCGAGCACCCCCTTGAAGGACCCACGGCCTCCTCCCCTCTCCCAAGGGCCCAGCTAGGAGGTATGGGGAAAGGTTCCACACAAGGAAGCAGTTCCAGGAACTGGAAACGCCCGTCCTAGGGCAGCCCTGCCCACCAGCCCTGCCCCCACCCTGGCCAGCTCCCACGGATGTGGTAGGCAGGCAGCACCCGTTCTGCCTGAGCACACTCACCACACTCTCAGTGCCATGGGACTGGCCAGACCCACCCAGCCACACGTATAGCAGAGTGCAGGCCCTAGTTACCCAGAAACGGCTTCTTATGCACGTATACCATCACACACACATACCCGTGCTCATAGAATCTAAATATTCCTGCTTTAGCCAGTCACAAACTCACATGCCCCTCATCCCCTACCACTTACAGCTCAAACTCAATTCCATGTGAACCCAACCCATCCCAACACCCCTCCGTGTGTGTGCATGCCACAGGTTCATGCACACACAGCGGTATGCAGCCTCTGCAGCCTCCATCACTGCTGTTGGTCCTCCCTATCCCTTCCAACCCACTGAGGTCTAGCAGAAGAAGAAGGTGTGGGCAGGCACACTTGCCAAACCAAAGCCTGCAGTCCCAGAAATGCCCACCTATTCAAATATGCTGGGCCTGCCTCCTGGTGCCTTCCTTCCCATTGCTGTGGGTGCTCAGCCTCTAGCCATCTTTTCCCCTGCCCTGTCACAACCTGTCCCAAGTCAGCAGGCATCTGATGGAGGCCAGGCTCCAAGGGGCGAGGACAGTTGGTAGGGCAGAGGCAAGCCCTAAGGATCTGCTTGTCCGTTCCAAGGACGCCATGCAGGGCAGTGAATAGAAACCTGAACTCTGATTCTGGACACAACTAAATTCAGGTCCTAGCTCCACCCCTTATTTCCAGTGTGACCATGAGCAAGTTATTTCATCTGTGAGTTTCCATGGCCCCATTTCTAAAGTGCAGACATTAGCAGGAGCTGCTTCACAGTGCTGCAGGGAATCAGTGAAACAGTGCTTGGTGTC
Task1_train_779
A variant has been detected on Chromosome 1 in SLC2A1 (solute carrier family 2 member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCAATGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_780
Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Encephalopathy due to GLUT1 deficiency
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_781
The variant affects gene SLC2A1 (solute carrier family 2 member 1), which is on Chromosome 1. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_782
A variant has been detected on Chromosome 1 in SLC2A1 (solute carrier family 2 member 1). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Dystonia 9
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_783
Consider this mutation in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Is this a benign change or a disease-causing variant?
Pathogenic; Encephalopathy due to GLUT1 deficiency
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_784
A variant was discovered in gene SLC2A1 (solute carrier family 2 member 1), Chromosome 1. Please indicate if this mutation results in a known disease or if it's non-harmful.
Pathogenic; Childhood onset GLUT1 deficiency syndrome 2
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_785
Gene SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 is altered by this variant. Does this mutation result in a disease or is it benign?
Pathogenic; Epilepsy, idiopathic generalized, susceptibility to, 12
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_786
Chromosome 1 houses a mutation in gene SLC2A1 (solute carrier family 2 member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Hereditary cryohydrocytosis with reduced stomatin
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCATTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
GTCTGATCACGTCTGCCCTGGGCAGTGGGTCCCTATTGTCCTCATCCTGAAGTCCATGCTCCCTAGCTGGGCCCCCGTGCTGGTGCCCATCCGCCCCTTCTGACTGTGCCGTGCCATACTCACAAGGCCCTTTGTGGTCTGGCTCTTGCCTACCTTACCTTGTTGACCTCCCCAACCTTTCCCCTCCTCCTGTTCACTCTAGTGACACACTAAACTACTCACGCTTTACTGAATGCCAGGCTTTCTGTCTTCTGGGCATTTTGCTTTGAAGGCCCCCTGCTCACCCCAACCCTGTTCTGTTTCTGGAAAACACCTCCTCTGTCCTGGCCTTAGAGTCCTAGTTCTGTCATTAACTCACTATGAGATCACAGTCAAGACATCATTAAATCCAGTAGCTGTCAACCTTGGCTGCACATTCGAATTGGTTGGGAAGCTTTTAATTGAATGCCCAAACAGCATCCCAGACCAATTAAATCAGAATCTGGGGGCGTTCTGGAAACCCCAATGTGCAACCAAGTGGAGAGCTCAACCTCCCTCTGTTTCCTCCCAGCCTGTCTTACAGACTTTCCATCTGTAAGGATTCCCAAAGGGAGCCAGTTCTGAAGCACACACTTTGGCAAGAGCTGTCAAGAGCACTTAGCAAATGCAGGGCTTGGGGCTGGTCCAAGCATGGGCCCACGGTCTCCATGCCCAGCAAACTTGGAAAAGTCCTGTCACCTCCCCTGCAGCTGAGCATGACTCAGCAGGCCAAGCCTTCCTGGTGACTTGCTCCTCAGCATCGGGCGTGGCCCCATAGCCACTGTCTGCCTATTTGGAAGAAGCCCAGCTAACTCTAGACACTACCTGGTTCCCCCAAACAGGACCCTGATCTTTGGGAGTCACTGCACTCACTTTCTAGCCCCATCCGTCTGGACAAGAAATGTGGTCCTGACGTGAGGACTGCCCACTCTCATTTGGTCCTCTCTGGGAAGGTACAGATTTTTAAACGGGCAAGGCAGCTGGTTAGGAAGACAACCTGAGGCCATGGAAACAACAGAGCTTGGCTTCTGACTCCAGCATTCAATAGCTTTGTGACCTTGGGCCTGTCGGCCATTTCATCTGCCTGGGCCTCAGTTTCCGGGTCTACAAAATGGAAATCACCACCCAATCTCATAAACACAAGCAAAATGCCTGGTACAGAGGAAGGGCTCAGTTTCCTTTCCTGTCCCTGCCTCCTACCCCCTACCCCCTTTTCCTCTTCTCTCCTCCTTAATGCAAGTAGGCTGGGCTGGAGGAGATGGTCTAGGTCCCTTCCCATCCTGACATTCAAGTAAACAAGTGAGGACAGATCTAGGATGCACGGCAGGGAGGAGGAAGCCAGCACAGACCTTCACCCCCTGTGGCTCCCTAGGGCAAGACGCCATTTCTGCTTTGACTGCCACAGGGCCTTCAGGGAGAGGACGCGGTTTCAACCTACAAATAAAGGAAGTGTGCTGCCTGTGGATGGGTATGAGTGCAGGCTCAAGGACCACCTGGCAGGCAGGTGTTGGATACCAGCTCTGTCTCTGACTTAGCTGGGTGATATTGGGCGGGTTTCCTCTCTCTGGCCGTTTCCCACACCTGCAGGCTGGGAGTGGTGCCTGCTGCCTCCTGACAGTGCTGCAGTGAGCATCAAGTGAGACAAGCCCATGAAAACCCTCTGCAGCCCCAGAATGCCACGGAAATGCAGCATTATTGTATTGAGCTTTGCTTTGAGTTTATTATATCATCAAACATATTATTAAATGACTGAGTTGGGTGGGGGGTTGGTCAAGAGGGCCTATACAAGACCCCAGGATTCTGTGGGACCTGAGATTCTAGAATTCTGCCACCCTGATTCCAAAGCAAGAGAAGAGTCTCTGACATGATCAGGGCCAGAAAACTGGCTGGAGAGGCAGACAGTACAGTGCGTTCATATAAATGACTCTAATTCAGGTGGTGGCGTGAGACTGTGGGCATGTGTGATGTGCAACAGAGCAGGCTGGTGTCCATAAGCCAACGATGGCACAGTACTCACCTTCTGGGGGGCACTGATGACTCCAGTGTTGTAGCCAAACTGCAGGGAGCCAAGCACTGCTCCTCCCACGGCCAGCATGAGGCGACCCGTCAGCTTCTGCGGAGAAACAAACCACACTGTTATAGGCGTGTCTGGGAGCAGGTTACTACAGGGCAGGGCCTGGACTGGCAAGTTTCTGTGTTCAGATATCTTGCCTGACTCTTGGCACCACACCAGTCTTTCTCCCAGGAAACTTGGCCAATTCCTGACCTTAGGTGCCCAAACCAGCCTAGCTGACTTCAAGATACTGGGCTGGCCGGGCCATTTCCTGGGGAGAGAGGGGAAGTATGATCTTCTCTCTCTGTAGCCAGGTCTCAGAGAGGGAGAGGCTTTGGATTCTTGGGGGTCTCATTTCCCTGGTGGAGCCATGCCTAGGGTCTGGTGGTTCTAGACTCTCTGACTGGGAGGCCCAGGAACCAGCCCTCCTATGCGAGGGGGCCCAAATTACTTGGTAGGAATAGCACAGATATAGATAGGAGAAGCACCCTGGATTTGGAGCTGAAGCCGCTGGCTTCTGATTCCAGCCCATCTGCCTGTTTGCTCTGTGAATTCCAGCAGGCTAAGTCCCCCATGTACCACCTCTCCCCTATCCTCCATTTGCTTGTCAGCAAAATGGCAACAGCTTCGTTTGTCACATTGGAGATGTGATCCCACCTTGCCCTACCCTTCCTGCTGTTCACAGGGCAGGAAACTGAGCCCTGAGAGGGTGAGGCAAGTTCCAGATCACTCAGGAGCCTGCAGCAGAGCTCAGGGCTCCGGACTCCTTACCCAGTGCTCCTCACGGCAATAATCCCCAAACCATAAGCCTCCCAAGGTTATATGGACATAGACGACATGCTAGGCGGGAATGCACTTTGGAAAAGTGCACAAGGTGAGTAAGAGTGTGGGGCTAAGGTGTTTCCAATGGGCAAAGGGATGGGAGAGAAAAAGAGCAGTTTGCTTCTGTCCATTGGAAGCCGAGGACCTAAGGCAGCAGGAAGGGCAGAGGCCAGCAGGTGAAGAGCCCTGCTTAGCCACAGGTGACTGAGAGGCCAGCAGGGTGTCAGCCCTGCTGAAGAAAAGTGCTCTTTTCAGCTATAAAAATGAGGAAGTCAGGAAATGTGACATTAGGCAGGCCTTTAACTGATTGTGGGAGAACAGGGCTGCGGGAGGCATGCCAAAGAAACGACTGGCATTCACTACGCACACTATACCAAGCTGGGCCCTGGAAGTGGGTGGAGCTGGCCATGGCCTGGCTGTGGGTCTCTGGGCCTTGGTTTCCACAGAACCCAGAAGCAGCCTTTACTTCAAGATCATCACAGATAGCCCTGGGCATAGCTGTTACCAGGCATATTCCCAGTATGGTCTTTTCATTCTCTGAAAGCGTCAGTCAGGGCAACGACTGCAAAAGCCAAGGCTCTCACATCAGAGGCTGCGAAAGAGGAAGAAGGCTTCGGCCCAGGAGGAGTGTGCAGCTCAGAGCCCCCTCTGTGTGTGCGCTGCATCCTTCCTTCCCATTAGTCTGTCTACCTGACCCCTTAGCCTGCCTCTGGACATTTATTCCACATGCTGGGGCTTCCCTCATACCACAGGGACTCCATTCCCTCTAAATCCTCTGCATTGCCCAACTAGAAAGACAGCCCCCACCCCCCGTATGTCCTGGCACTGCCCCCAGAATCTCCCTTCTCTCAATTCTCTGGGGAGCCTTCAGGCCCAGAGCTGTTGTTCCGAGTGGGTAGTGAGCAGCTGACAAATTTCTGGGGGACCCCAGCGACACACCAGGTCAAGCCTAATTCATAGGGTGGACACTAATTCAGAGGCTGTGGCAAGGCACTAAGCATCACCAGGAGGGCTCACTAAACAGCGACTGCTAGGCCCGCCACGTGCTGGGCTTTCTGCCTGCGGTATTACCTGCATTTGCTCATGGGATGCAAAGTATATACTGTATTTTTCTGGAACACATTAGAATAGATTAAAAAACAAGCAATGCAGTGACATCAATCTATCATTTAAGAAAACGTGGCATAGTGATATAATGGAATA
Task1_train_787
This variant affects the gene SLC2A1 (solute carrier family 2 member 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; SLC2A1-related disorder
AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCGTGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
Task1_train_788
This alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1 may affect gene function. Does it lead to a disease or is it benign?
Pathogenic; Encephalopathy due to GLUT1 deficiency
AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCGTGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
Task1_train_789
A change on Chromosome 1 affects gene SLC2A1 (solute carrier family 2 member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
Pathogenic; GLUT1 deficiency syndrome 1, autosomal recessive
AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
AAAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCGTGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACAC
Task1_train_790
Here is a genetic alteration in SLC2A1 (solute carrier family 2 member 1) on Chromosome 1. Based on the data, is it a benign variant or a cause of disease?
Pathogenic; Inborn genetic diseases
AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCAAGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
Task1_train_791
A sequence alteration has been identified in SLC2A1, SLC2A1-DT (solute carrier family 2 member 1| SLC2A1 divergent transcript) on Chromosome 1. Is it disease-inducing or harmless?
Pathogenic; Encephalopathy due to GLUT1 deficiency
AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCACGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
Task1_train_792
An alteration has been detected in SLC2A1, SLC2A1-DT (solute carrier family 2 member 1| SLC2A1 divergent transcript) on Chromosome 1. Is it pathogenic, and if so, what disease is involved?
Pathogenic; Dystonia 9
AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCATGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
AAATAAAAAAATAAAAATACAGATACACCACTGTGAAAGAGGTGTTCCAACATTAATTACTGACGAGGTAGACAGTGGAAAACTTGGAGAACACTCCATGAAGAGCACCCACCTGCTACACTATTTAGAACCAGCTGGCACAAGGGGCCACCTTTGAAGATAGGCAAACTCTCTCCCTTCTGCCCAAAATTCAAGAAATGTTGTGGTGAAGAGAGACAGTGGAGACAGAAATGAAATTAAATCTGATGGGCCTGGGTTCAAATCCAGTTCAACCACTTACTAGCTGTGTGACTTTGGCAAACTTATTTCCCTTCTCTGAGCTCCAGGCTAGTGAGTAACCAGCAGGGCTATAAGGTCCGTGACGCTTAAAGTAGTTTGGCTAAGAACCTGCTGATTTTCTCCTCCACTTTTCTGTCTCCACGTAGTATTCCCTTATCCACTCAACAAATAAATACCCATGTCTGGCATAGTATGCTGAATAGATAGTTCCTTCCCTAGAGGAAGTGACAAAAGTGATCTCTTTCAGATGGAAAAACTGAGGCCCAGAAGTTAAGTGGCCTGCAAGAGCCCTGAGATATTTGGACTTCCTTGCCACTAGCTAGAAGAGCTTCTCACTGAACTTTTGTTTAGTTATATCCCACCCTTACGGCTCACCTAAGATCCTGGGAGCCTTCCCCGGGAACTTCCCCGGGGTCTCACCTCAAGCGAGGGCCCAGGAAGGGTGAACCAAGTCGTCTGGATTTATGGATTCAACAGGTGTGGGGCGGAAGGCCTTTTCCTGCCGAGGGTGCGGCCCAGCGCCACCCCGCTCAGTCTCAGCGGGACACCTCCACAGCCAGTAGGAAGGGCAGTTCAAAATTCAGTGCTACCCCCGCGTCCCAGCTAAGAAAACAAGGGCCATCCAGGTGCCCTCCCAGCTGACGAGATGGAAAAATCAAAGTATAATAGATAAAGAGGGACCGTTTCAAAAGAAAAAGGGGACTTGAAAATATTGTAGACTAGGGGGAGGAAAGGAGGTGGAAAGAAACAATGCCCTACACACAGGAGGGGCTCCACAAACAATTTGTTGAAAAGAAATCGCTCTGCGGACGCTACAAAGATGCCCTGCAGGACAAGCCCACTTACACAGAAAAAAAGAAATCCTATCTAGGGAGTTGTTGGTCCCCAGAGTCCCCATCCCTCATTCCCCAACCCCGTGGCGTGCGCGCTTCCCGCTAGACTTCAGCCTGGGGCTCTTTCCTGGCCCCCAGATCCCCCGCCCCTCCGGTTGCGCTCCCCGCCTGGCCCCGAGGGTAAACCTGCCTCCGCGGAACACATCTCCGCGAGACTGGGCCAAAGCTTTGGGGCCTGCACTCCTCGCAAAGGAGAGCCTCCGAGACCGGAGGTTCATCTCAACCCCCGCGTTCGAGCCCGGGCCTGGAGAAAAGTGCCCTCCCCTCGGCCTCGGCCTCGTCACCGCGGGGGACTGGCGGGAGGAGTAGGGGAGGCCGGTGGGACACCTCGCACCAGGCCGCCCACCTACAGGGGCGTCCGGGCTAGGGGAGCAGACGGAGAGCGGGGGCGGCTCCTGACTCCTCCGCGCGCCGGGGCCGGGGCCGGGCCGGGGGCTCGGCCCGCTCAGCCAATGGGCGCCGCGCTCGGGCCCCCTCCCCCGCACCGGGAGGGGCCGAGGCTGGGCTGCTGCTGCCGAGGTCGTGTGCGACGTGCCGCTCCCGGGCCCTGTGTCCCCAGCCCCAGCAGGGCCGCGTGGACGGCGCGGCGCCCCCGGAAGGAGGCCATGTGCTCAGTGCCGGCGCCAACTACGCACGCGGCGCCCTCCGGCCCGCTAGATCCGAAGCCCATCCCCACTGCGGCCAGCGGCCCGGCGGGGCGCTGCGCTCGGGACCCGCACCGAGCCAGGCTCGGAGAGGCGCGCGGCCCGCCCCGGGCGCACAGCGCAGCGGGGCGGCGGGGGAGGCCCTGGCCGGCGTAAGGCGGGCAGGAGTCTGCGCCTTTGTTCCTGGCGGGAGGGCCCGCGGGCGCGCGACTCACCTTGCTGCTGGGCTCCACGGCAGCGCTGCGCTGGTGGCTCTGGCTGCGCCGGGTACGCGGGTGGCGACGGGCGTGCGAGCGGCGCTCTCCCGCTCAGGCTCGTGCTCCGGTCCGGGGACTCCCACTGCGACTCTGACTCCGACCCCCGTCGTTTGGTCTCCTGCTCCCTGGCGTGCTCACTCGGGGACCCGCGACTAGCGACCGGCACGCTCGCTGTTGCTACCTCTTGCCTCTTGCCAGAGAGCGCGCGGACCGTAGCGTTTATAGGACCCCGGCCATTGGCTGGCGACGCCGGTGTGTCAGGGGTGTGTGGGCAGGACCTCGGGGCGGGGCCTGGGGCCCAGCCTGTCCTGGGCGGCGCTCTGCGGGGAGGGGGTGAGGGGAGTGGCCGGGGCCGGGGCCCCCCCTAACCACTGCCTCGCTCAGGCTGCCGATCGGCTCGTTCTCTCTGCGTTGGGACCGCGGAGGGCATTCGCTGTGTGACTCAGGGCAAGTGTGCGCACCTCTCTGAGCCTCCGCGGCCTTCTCTAGCAAAATGGTGGAGCCGGTACCCGGCTGTAAGGCAAGCTGGGATGCGCGGAGTAGCGGGTGGAAAGCTGGACTGGAGTTCTCACTCGGCCGCTGGGTGACTTCGGTGCACTAGGGATAGTAACAGTACCACCTCGTAGGGTTGTAGAAAGACCAAGTGAGTTAATATTTGTAAAGTGTTTAGAACAGCGTCTACTGCATGGAAAGTAGTATTTATTTGTTAGAGAGACTCCAGGAGGTCTTGCCCAGGGATTGACTTCTCCCTTCCCTGTCTCCACCCCCCACATTCCCGTTTGTGAGCCAAGCCTTGCTTTTGCACCGGCCGGGCTCTCTTGCCTGGAAATGCATACCCATCTCAAACCTGGGCTTTAAAATCACCTCCTCTGGGACGCCTTCCTCTACTTCTCACAGTTCAGGTGAGTCTATGGTGACCTGTAAGTGTGGAAAATATGAAAGGCAGGCTAACTGACTGACATGATAGGACATTAAGGACATGATAGACCTCGGGTTTGAACCAGCTCAACTGTATACTGGCCCGGCCGCGATCCTGGGCGAGTTCCTGGCCAGTGAGGCTGTTTTCGTTTTTTTCTTTAATTTTTTTTTTTCTCAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGCGGCACGATCTCGGCTCACTGTAACCTCCGCCTCCCGGATTCAAGCAGTTCTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCTATCACCCCTGGCTAATTATTTTTATTTTTAGTAGAGACGGGGTTTCACCATTTTGGCCAGGCTGGTCTTGAACTCTTGACCTCGTGATCCACCCACCTCGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACTGAGCCCGGCCGAGGCTGTCTTCTTATGAGTAAATGGAATTCCCACACCAATCTCATTGCTATCAGGAGAGGTGCAATTTCCAGATAAGCTCATGAAGTGTTTAGCATGGAAGTTCTCATTTACTGGTTGGTGGTATTGTTGGTTTATTTATTTAGTCTGTTAGTAAATAAATAAATGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCCCACCTTAGCCTCCGTAGTAGCTGGGAGTGCAGGCATGTGCCACTGCACTGGTAGTGGTATTGCTATCATCTGACTTCACCTTATTTCCTCTAGACCAGTGCCTTACTTGAGACACAGTGAAGGGAAGGACCCCCAGTCCAAAGGTCTGATCAAAGTCTTGAGGGTCCCTTTCCCGATGGAGGGAGTCATGGTGGGCTTACTGTCTGTCGGAAACCGGGAGGCTGAGCCGACCAGATGACCCCTGGAGTTCTCTGGCAATGTGTCCAGTTCTGGCTGAGGGGCACCTTGGTTGAGTATGGAGCCCTGAAACAGAAGGCAGGTGCATTCTGGGCACCCCCCTGCCCAAGGCTTCAATTCCTGTGGTCTCTCTATGCTCAGCCTGGAAAGCTTGGGCCACCTCTCTCCTCACCCCTGGACAGACCAAGTCCTGCTGACTCCGCTGTCTACACC
Task1_train_793
This alteration occurs within gene TIE1 (tyrosine kinase with immunoglobulin like and EGF like domains 1) located on Chromosome 1. Is it associated with a disease or is it a benign variant?
Pathogenic; Lymphatic malformation 11
CTGGAAAGGACATCCCGTGCCCCAGAAACTGGGGACACTCTCCAGCCCCGCCCTTCCTCCTGCCCAGCCATGCTGTCCCCCACCAACCGTCACACACAGACAAGTATACCTTTAACTCTGCTCTGGGATGCTGCCTCCCATCTCTGAGTCACCCCACAGACACTCAGTGCTAGCCCAGGGGAGCATATGGGGCTATGGAGCTCAGAGGGTGACCAGCTTGGCTTCCTAGAAGTGGTGCATGCCTAGAAATCTTCCAGGTAAATAAGGAGGGACCTCCCAGTGCCCAAGATTACTCAGACCAGAGCACCCCCACCTGCTCTAAGGCCTCCTTCGCCTTCTCCAGCTTCTCCAGCACCCTAAGTCTTAACCATTCACACCCCTGCCACCCCCTGACCCTGCTGTCCCTCTGCTCCTGCCACCCCATGTAAGCCCCCTCTCTCACCTTCTGCTTTCTCGTTGCCACACTCTGCCTCCCAGGTCCTCGCCATCTCCCTATCCCGTGACTATGCATGACTCTCTGCCATCAAGCCTCACCTTCCGCCTTTCTCTTCTCACTGTGCCCAGGCTTAGGAGCCAGACAACCTGGGCTTGAATCCTCTCTCCACAAATTCCTTGCCCCATCACCTTAAGGAAACTACTTAACCTCTCTTACTTTGTTTCTCTCTTTGTGAAATGGGGATAGCTAGCACTTGATGGGGTTGTTACAAAGATTAAATTTGATGATGTATTTAAGCATTTAGCACAGTGCCCGATACAGGGTGTGTGCTCAATGTATGTCGATAATTATTGTTATTATTTAAAATGTCACCTAGTCCCTAGATTTTGATAGTTCTCTGGCAGCTCTCACATATGATCTGCAGCCAGGACCCCTCTTCTGACTCCAGATCATTTGGTGGGGACTCCATGAAGTGGGGCATCTACTCTGGAAGTCTGGTTTTGAAGTTGGTGTGGAAAGTAGCTGCTGTATGATTCGGAGGCCCATTTTATATCCAGCCACTTCCTGGACATCTAATCCCCTGCGTGAGCCAAAGGCACCAAGGGCTTCTCTGCACCCAAAATGGACCTTCATCTCCCCGCAAATCAGCACTGCCCTCCTGACATGCTCATTGCTGCCTGACACTCCCTCAGCTTACAGCGCGGCATCCTTTTCCTCCCTCGCTCCCTCCCTCTTTCCTTCCTTCCTTTCCTCTCAAAAAGCCAATCTGGTAAACATTTGTAAGAGTCAAGGGAACCTGTTAAAAGCACTAATGCAATAATCTGGAGAGAAAAAGTTGAGGCCAGAATAGGAGCAGCGATCATGGGGTGAGGAAGTGGGGCAGGAACAAGAAGGCTGTTTTGGAGTAGAATGGATAGATCTGAGGCGGCCTGCGCAGACAGACCTAGTTCAACACATGGCTGTATCTCCTTCTAGTTGTGTGTCCTTAGGCAAGTTATTCGGTGTCTCTGAGTCTCAGTGTTTTCATAATGCAGGGTAATGTGCCCTGACAGAAAGGTGGCTGTGAGAATTAGAGGTCATGCTATGAAGCGTGTGGCGGGGAGCAGGTGCTTCAGTGCCAGTGCCATTTTTTTTTTTTAATAAGAGAGTGGTGAATGAGGGCAGGGGCAGAGAGCAGGATGATGCCCAGGTAGTCTCCCTGACCTGGGTTTCGGCCCCTTCTGTCTACCCCCACACTGCATGGGAAGAGTGCACCCCCAAACCATGTCTGGCCATGTCACTTCCTCATCTACCATCTTTTGGGACACCCTCATGCCTTTATTGCTTAATCCTTGTGCCCCAAGCTACCCAGGGGCCTGAACTCTGTCCTCCCTGGGCCCTGGCCACTATGGTCATCTGTTGAACTTGGTGTCCCTCAAGCCCAGAGGGTCCCCAGCTTGAAACAAAGATGCAGAAGTGGACTGGATAGGCTGTGTGCCCATGCCTTACCCTGAGTCTCCTGGCAGTGCCCCCCGTGCCCCTGGCTGCACCTCGGCTCCTGACCAAGCAGAGCCGCCAGCTTGTGGTCTCCCCGCTGGTCTCGTTCTCTGGGGATGGACCCATCTCCACTGTCCGCCTGCACTACCGGCCCCAGGACAGTACCATGGACTGGTCGACCATTGTGGGTGAGTAGGGAGAGAGCTGGGGCAGGACAGAGGTGTTGGGTAATAGTGAAGGGATACAGTGAGCAGGAGAGGGAGGGCAAATGGTGCGAGGGGGCTGAAGGGAGCATGGCAGCTTCTAGAAGAGGTGGGGGCTGAATAATGTGTGCTTTACACCCCACGCCCAGTGGACCCCAGTGAGAACGTGACGTTAATGAACCTGAGGCCAAAGACAGGATACAGTGTTCGTGTGCAGCTGAGCCGGCCAGGGGAAGGAGGAGAGGGGGCCTGGGGGCCTCCCACCCTCATGACCACAGACTGTCCTGGTGAGAGGCCAAGAGTCATCCCTTCCTGTCCCCCCAAGGGTTACTTTCCCGTCGACCCCAGGGACCCCTGCCTTTCCCACTGGAGGTTGTTCTTCCTTGTTCACTGGGGATCATTGTCCTGTCCAGCCCCAAGTACCTACTGGACAGTTCTGACCCCTGACCTCTGGCCCCAGAGCCTTTGTTGCAGCCGTGGTTGGAGGGCTGGCATGTGGAAGGCACTGACCGGCTGCGAGTGAGCTGGTCCTTGCCCTTGGTGCCCGGGCCACTGGTGGGCGACGGTTTCCTGCTGCGCCTGTGGGACGGGACACGGGGGCAGGAGCGGCGGGAGAACGTCTCATCCCCCCAGGCCCGCACTGCCCTCCTGACGGGACTCACGCCTGGCACCCACTACCAGCTGGATGTGCAGCTCTACCACTGCACCCTCCTGGGCCCGGCCTCGCCCCCTGCACACGTGCTTCTGCCCCCCAGTGGTATGTGCAAGGCGCAAGGATAGCTGGGGGTTGGGGGAGGACGTGGGACACAGGGACACATGAGACCTAGGAGACACGGGAGGCTGTAGGAGATTAATGGACATGGAGAGGACACAGGACACACATAGGGTATTAGGCAGACGTGACCCCAGCGGGGACATGGGACTTGGGGAAGATCCAGGGTACCAGGAGGACACAGATCACCAGGAGCATGTGGGGAGAGCATGGGGAGGTCAGGGTTCATGGCGAGAACCAGGGTCATGGGAGGGCATGAGACTTGCGGAACACAGGGCATGGGCGGATGTGGAGAGGACTTGGGATACAAGAAGTACAAGGAGAAGCAGAAGCTTGAGGGTGAAAGTGGCCTGGGGGAATGGAGAGGAATTCAGTCTGGTGGGGAGGAGGAAGTTGGCAGGGTGGCCCCTGTGCTTGGACCCACAGAGGAGGGAGCACAGCTAGAGCAGATGTGTCCAGCCCCACAGCTACATAGCCCGGTCCTATCTGAGCCTTGCCTTCCCCCACCATCTCCCCAGGGCCTCCAGCCCCCCGACACCTCCACGCCCAGGCCCTCTCAGACTCCGAGATCCAGCTGACATGGAAGCACCCGGAGGCTCTGCCTGGGCCAATATCCAAGTACGTTGTGGAGGTGCAGGTGGCTGGGGGTGCAGGAGACCCACTGTGGATAGACGTGGACAGGCCTGAGGAGACAAGCACCATCATCCGTGGCCTCAACGCCAGCACGCGCTACCTCTTCCGCATGCGGGCCAGCATTCAGGGGCTCGGGGACTGGAGCAACACAGTAGAAGAGTCCACCCTGGGCAACGGTGAGAGGGCAGGGCCCACAGGACCCCCCGGGCTCTGAGCGGGGAGAGCTCAGCACGCTCTCCTTCCACATCACCCCCTACTGTGGAGCTAGGGCATCCCAGGCCCCTCCTGACAAAGAGTCAGCCCCAGTCCTGGGGACTCAGCCTTCCATTCTCATGATCCACTGTCCCAGGGCTGGGAAAATCATGTCGCCCCTCTGACACCCCTCATCCCTTCCTTCATGTGGCCCAAGTGATTTCCTGACAGTCCTGGCACTGGGATCTTTCACCTCTCCCTCTGTGTAACCCCATGGTGGCCTCTGGGTTCCCTGACCCAGGTGTCCCCACAATCTGCCCCTCTCACTGTGTCCAGGGCTGCAGGCTGAGGGCCCAGTCCAAGAGAGCCGGGCAGCTGAAGAGG
CTGGAAAGGACATCCCGTGCCCCAGAAACTGGGGACACTCTCCAGCCCCGCCCTTCCTCCTGCCCAGCCATGCTGTCCCCCACCAACCGTCACACACAGACAAGTATACCTTTAACTCTGCTCTGGGATGCTGCCTCCCATCTCTGAGTCACCCCACAGACACTCAGTGCTAGCCCAGGGGAGCATATGGGGCTATGGAGCTCAGAGGGTGACCAGCTTGGCTTCCTAGAAGTGGTGCATGCCTAGAAATCTTCCAGGTAAATAAGGAGGGACCTCCCAGTGCCCAAGATTACTCAGACCAGAGCACCCCCACCTGCTCTAAGGCCTCCTTCGCCTTCTCCAGCTTCTCCAGCACCCTAAGTCTTAACCATTCACACCCCTGCCACCCCCTGACCCTGCTGTCCCTCTGCTCCTGCCACCCCATGTAAGCCCCCTCTCTCACCTTCTGCTTTCTCGTTGCCACACTCTGCCTCCCAGGTCCTCGCCATCTCCCTATCCCGTGACTATGCATGACTCTCTGCCATCAAGCCTCACCTTCCGCCTTTCTCTTCTCACTGTGCCCAGGCTTAGGAGCCAGACAACCTGGGCTTGAATCCTCTCTCCACAAATTCCTTGCCCCATCACCTTAAGGAAACTACTTAACCTCTCTTACTTTGTTTCTCTCTTTGTGAAATGGGGATAGCTAGCACTTGATGGGGTTGTTACAAAGATTAAATTTGATGATGTATTTAAGCATTTAGCACAGTGCCCGATACAGGGTGTGTGCTCAATGTATGTCGATAATTATTGTTATTATTTAAAATGTCACCTAGTCCCTAGATTTTGATAGTTCTCTGGCAGCTCTCACATATGATCTGCAGCCAGGACCCCTCTTCTGACTCCAGATCATTTGGTGGGGACTCCATGAAGTGGGGCATCTACTCTGGAAGTCTGGTTTTGAAGTTGGTGTGGAAAGTAGCTGCTGTATGATTCGGAGGCCCATTTTATATCCAGCCACTTCCTGGACATCTAATCCCCTGCGTGAGCCAAAGGCACCAAGGGCTTCTCTGCACCCAAAATGGACCTTCATCTCCCCGCAAATCAGCACTGCCCTCCTGACATGCTCATTGCTGCCTGACACTCCCTCAGCTTACAGCGCGGCATCCTTTTCCTCCCTCGCTCCCTCCCTCTTTCCTTCCTTCCTTTCCTCTCAAAAAGCCAATCTGGTAAACATTTGTAAGAGTCAAGGGAACCTGTTAAAAGCACTAATGCAATAATCTGGAGAGAAAAAGTTGAGGCCAGAATAGGAGCAGCGATCATGGGGTGAGGAAGTGGGGCAGGAACAAGAAGGCTGTTTTGGAGTAGAATGGATAGATCTGAGGCGGCCTGCGCAGACAGACCTAGTTCAACACATGGCTGTATCTCCTTCTAGTTGTGTGTCCTTAGGCAAGTTATTCGGTGTCTCTGAGTCTCAGTGTTTTCATAATGCAGGGTAATGTGCCCTGACAGAAAGGTGGCTGTGAGAATTAGAGGTCATGCTATGAAGCGTGTGGCGGGGAGCAGGTGCTTCAGTGCCAGTGCCATTTTTTTTTTTTAATAAGAGAGTGGTGAATGAGGGCAGGGGCAGAGAGCAGGATGATGCCCAGGTAGTCTCCCTGACCTGGGTTTCGGCCCCTTCTGTCTACCCCCACACTGCATGGGAAGAGTGCACCCCCAAACCATGTCTGGCCATGTCACTTCCTCATCTACCATCTTTTGGGACACCCTCATGCCTTTATTGCTTAATCCTTGTGCCCCAAGCTACCCAGGGGCCTGAACTCTGTCCTCCCTGGGCCCTGGCCACTATGGTCATCTGTTGAACTTGGTGTCCCTCAAGCCCAGAGGGTCCCCAGCTTGAAACAAAGATGCAGAAGTGGACTGGATAGGCTGTGTGCCCATGCCTTACCCTGAGTCTCCTGGCAGTGCCCCCCGTGCCCCTGGCTGCACCTCGGCTCCTGACCAAGCAGAGCCGCCAGCTTGTGGTCTCCCCGCTGGTCTCGTTCTCTGGGGATGGACCCATCTCCACTGTCTGCCTGCACTACCGGCCCCAGGACAGTACCATGGACTGGTCGACCATTGTGGGTGAGTAGGGAGAGAGCTGGGGCAGGACAGAGGTGTTGGGTAATAGTGAAGGGATACAGTGAGCAGGAGAGGGAGGGCAAATGGTGCGAGGGGGCTGAAGGGAGCATGGCAGCTTCTAGAAGAGGTGGGGGCTGAATAATGTGTGCTTTACACCCCACGCCCAGTGGACCCCAGTGAGAACGTGACGTTAATGAACCTGAGGCCAAAGACAGGATACAGTGTTCGTGTGCAGCTGAGCCGGCCAGGGGAAGGAGGAGAGGGGGCCTGGGGGCCTCCCACCCTCATGACCACAGACTGTCCTGGTGAGAGGCCAAGAGTCATCCCTTCCTGTCCCCCCAAGGGTTACTTTCCCGTCGACCCCAGGGACCCCTGCCTTTCCCACTGGAGGTTGTTCTTCCTTGTTCACTGGGGATCATTGTCCTGTCCAGCCCCAAGTACCTACTGGACAGTTCTGACCCCTGACCTCTGGCCCCAGAGCCTTTGTTGCAGCCGTGGTTGGAGGGCTGGCATGTGGAAGGCACTGACCGGCTGCGAGTGAGCTGGTCCTTGCCCTTGGTGCCCGGGCCACTGGTGGGCGACGGTTTCCTGCTGCGCCTGTGGGACGGGACACGGGGGCAGGAGCGGCGGGAGAACGTCTCATCCCCCCAGGCCCGCACTGCCCTCCTGACGGGACTCACGCCTGGCACCCACTACCAGCTGGATGTGCAGCTCTACCACTGCACCCTCCTGGGCCCGGCCTCGCCCCCTGCACACGTGCTTCTGCCCCCCAGTGGTATGTGCAAGGCGCAAGGATAGCTGGGGGTTGGGGGAGGACGTGGGACACAGGGACACATGAGACCTAGGAGACACGGGAGGCTGTAGGAGATTAATGGACATGGAGAGGACACAGGACACACATAGGGTATTAGGCAGACGTGACCCCAGCGGGGACATGGGACTTGGGGAAGATCCAGGGTACCAGGAGGACACAGATCACCAGGAGCATGTGGGGAGAGCATGGGGAGGTCAGGGTTCATGGCGAGAACCAGGGTCATGGGAGGGCATGAGACTTGCGGAACACAGGGCATGGGCGGATGTGGAGAGGACTTGGGATACAAGAAGTACAAGGAGAAGCAGAAGCTTGAGGGTGAAAGTGGCCTGGGGGAATGGAGAGGAATTCAGTCTGGTGGGGAGGAGGAAGTTGGCAGGGTGGCCCCTGTGCTTGGACCCACAGAGGAGGGAGCACAGCTAGAGCAGATGTGTCCAGCCCCACAGCTACATAGCCCGGTCCTATCTGAGCCTTGCCTTCCCCCACCATCTCCCCAGGGCCTCCAGCCCCCCGACACCTCCACGCCCAGGCCCTCTCAGACTCCGAGATCCAGCTGACATGGAAGCACCCGGAGGCTCTGCCTGGGCCAATATCCAAGTACGTTGTGGAGGTGCAGGTGGCTGGGGGTGCAGGAGACCCACTGTGGATAGACGTGGACAGGCCTGAGGAGACAAGCACCATCATCCGTGGCCTCAACGCCAGCACGCGCTACCTCTTCCGCATGCGGGCCAGCATTCAGGGGCTCGGGGACTGGAGCAACACAGTAGAAGAGTCCACCCTGGGCAACGGTGAGAGGGCAGGGCCCACAGGACCCCCCGGGCTCTGAGCGGGGAGAGCTCAGCACGCTCTCCTTCCACATCACCCCCTACTGTGGAGCTAGGGCATCCCAGGCCCCTCCTGACAAAGAGTCAGCCCCAGTCCTGGGGACTCAGCCTTCCATTCTCATGATCCACTGTCCCAGGGCTGGGAAAATCATGTCGCCCCTCTGACACCCCTCATCCCTTCCTTCATGTGGCCCAAGTGATTTCCTGACAGTCCTGGCACTGGGATCTTTCACCTCTCCCTCTGTGTAACCCCATGGTGGCCTCTGGGTTCCCTGACCCAGGTGTCCCCACAATCTGCCCCTCTCACTGTGTCCAGGGCTGCAGGCTGAGGGCCCAGTCCAAGAGAGCCGGGCAGCTGAAGAGG
Task1_train_794
This variant affects the gene LOC126805720, TIE1 (CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813| tyrosine kinase with immunoglobulin like and EGF like domains 1) found on Chromosome 1. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Lymphatic malformation 11
GGTGTGACACAGGTGTGTCTTGGGTATAAAGTACCTAGCCAAGGTGGGGCTTGCTGGAAGGAGTCTTGGAAGGTGTTTCAGGAATAGGACTGGGGTAAAGGTAGTTTCGGATTATGTTTGTGTAAGTGACGGGGGATGCCTTGGAGAGGTTTGGGAATGCTGGCGGATGCTTCCTGAGGTAGATGGAGAGGCCACTCAGGAATTGCTCTCATCTTCCTCCCTGAAGGGCAAGGTCATGCCCACCTGAGGATCTTACCAGAGCATGACCCCCAAGACTCCCTCTCTGTGCCCCCTCCCCTGCAGACAGCCCTCTTGGCACACTCCTCCTGTCTCTCCAGGGATGTCCATCTTGATCTGAACCTACCCCTTGCCCCAAGCCCTTTGGCCTTGCCTGCATGGCTCACTGCTTACCACACTGATCACTCCTCTGACCACTACATGCCTACTTCGTGCTTCTGCCCCAACACTCCCTTGATTCCCTCCACCCCCTTTGAACTCTCTCCCCTGGTCTCAGGGCTGATGCACACTACACAGAGGCTGTTAAAGTGTGAGATGCAGTCAAGAGTAAGAGCTTTGGAGCCTGAGTTGGAACGCTTGCTCTGCCACTAACTAGCTGTATGGCCTTGGGCAATCTAGCTAACCTCTCAGTGCCTCAGTGTCTTCATCTGTAAAATGGCAAGACTAATAGAACCTGTATCATAGGGTTGGTGTGAGGGTTAAATGAATTAACATGTCTGTTAAATGACCAGGGCCTGGACCACGGTAAGTGCTCAATAAAAATGTTAGCTCGGCTGGCTGTGGTGGCCCACATGTGTAATCCCAGCACTTTGGGAGGCCAGGCAGGCAAATCACTGGAGACCAGGAGTTTGAGACCAGCCTGGGCAAGATGGCAAGACCCTGTCTCTACTAAAAATACAAAACATGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTGACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCTCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAAAATACAAAACATTAGCTGAGCATGGTGGCACACACCAGCTACAAGGGAGACTGAGGTGGGAGGACCACCTGATCCTGGGAGGTTGAGGCTGCAGTAAGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAACAAAAGAGCTCTAATTGTGCTGAGCCCAGGGATGGGGGCAGTATGAAGGAGCTTCATTGGCGCAGAGACAACAGCTGGCCAAGGCCAGATACTTACAGAGTAGACACATACAGCGGGGCTGGGAGGCACTGCACATCTTGGGCAGGTAGAAGCTAAACTGCTAGGGACCAGGGCCTAGAAGGTAACTAAGTGCATCCTTCTTATTTCAGCTGGTCCTTTGGAGTCCTTCTTTGGGAGATAGTGAGCCTTGGTGAGTTCCTGATCCCCGTCCCCCAGAGTGCCCCACCTTACCCCACGTGGAGCCCTGGACCGAGAGCACTTTGTCCCCTCCTGCAGGAGGTACACCCTACTGTGGCATGACCTGTGCCGAGCTCTATGAAAAGCTGCCCCAGGGCTACCGCATGGAGCAGCCTCGAAACTGTGACGATGAAGTGTGAGTCACCCCATCCTTGAGCTCCATGATCCTATCTCTGTGATGAGTGACCTCAGCTTTGATCCCTGTGACCCCATCACCCCAGCTGGCCTGACTCCTCATCTCAGCAATGCCCCCTCGCAGGTACGAGCTGATGCGTCAGTGCTGGCGGGACCGTCCCTATGAGCGACCCCCCTTTGCCCAGATTGCGCTACAGCTAGGCCGCATGCTGGAAGCCAGGAAGGTGAGGAGACTGGGGCTGAGGTGGCGGGCTGGGCTCACAGAGTGCTCCAGAGTGCCCTCTCAGAGGTGCCATGACCCCTGTCCCAACCACACTGCCTGCCCAACCTCCCTCAGTGGGGGCTGTCACCACGGCTAGGCTGGGCCCCAGGATGCAGCCTGCCTTTCCAGCCCTCACTGGTTTAGACACCAGGCCCTTCCAAAACTCTTCCAAGGCCACTGCTTAGCCCCAACAGCAAATCCCTACCTTAAGCCCCAAGTCCCAGACTGCTTGCCTGTCCTCTGCTGAGGCCATCAGCCTGTCCTCATCTGGGACACCTCTCCCCACCTGCCAGAGCCAGAGCAGAGTGCATGAATAGTCACTAACCAGATGGATGGATGGGTGAATGAGTGATACAGTAACCGTATGAATGAATGAATGGAATTAGTGGATAGATGATACAATAATCATATGAACATGTAATTCAATAACTCAATCTACTAACCATGTGAATAAGTGAATTATCAAATAAATATAATGAAAAATATATCAAAATTAGTAAATATGAAGAGTTCTTCAAGTAAATTAATGATTAAATAACCATCTTAAGAATGAAGGAATGATCAAATAACCATATAAATGGATGAGTCGTCTAAAATGGCTTTTGAACAGATAAGTTACTGAATGAATGAACGCATAAGCCAAGAATTCATTGAAAGAGTGCATGTAAAAACCCTCCTCTAACAATGGCATTGAGAGCCTCTCACCTGAGGCCCCAACTGTGGCCTGATGCCTTCACTGCCCTGGGCTGGTAAAGGCCACTCTTGGCCATGGGGCCATCTTAGGTCTCCAGAACAAATCAGTGTCAGTTCAAATGCCCCCACCACATGGAAGTCCAGGAGCTTGAGGCCAGATGCACCCCCATTCCTGGCCCCCACTAAAGCTTGCTCTGCCCCCAGGCCTATGTGAACATGTCGCTGTTTGAGAACTTCACTTACGCGGGCATTGATGCCACAGCTGAGGAGGCCTGAGCTGCCATCCAGCCAGAACGTGGCTCTGCTGGCCGGAGCAAACTCTGCTGTCTAACCTGTGACCAGTCTGACCCTTACAGCCTCTGACTTAAGCTGCCTCAAGGAATTTTTTTAACTTAAGGGAGAAAAAAAGGGATCTGGGGATGGGGTGGGCTTAGGGGAACTGGGTTCCCATGCTTTGTAGGTGTCTCATAGCTATCCTGGGCATCCTTCTTTCTAGTTCAGCTGCCCCACAGGTGTGTTTCCCATCCCACTGCTCCCCCAACACAAACCCCCACTCCAGCTCCTTCGCTTAAGCCAGCACTCACACCACTAACATGCCCTGTTCAGCTACTCCCACTCCCGGCCTGTCATTCAGAAAAAAATAAATGTTCTAATAAGCTCCATTCAATGTCTACCTTTTACTGCTGGTCAATCTTGGGGTGAGGGGCGTAGTTAAACCCAAGAGACAGAAACTGGCCGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGCTTGAGACCATCCTGGCGAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGAAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAGAGACAGAAACTGGGCTTTCTAGGAAAAGAAACACTGTCTGAGGCCTCAGCCCTCTGTTGAGGTTGCCTGTCCAGGATAGGAGGTGCTCTGGAAGACTCATTTTACACAAACACCACCAGCCCCTACCTCTGTCCTGATTAGAAGGCCAGTTTTCCCCTGTTCCCTTCCCTGCTCTCCAGCTTCCATCACTAACGTGTCTCCCTGTGTATCTCTAGGTAGCAGCCAGCCTAGGATTCTTTGTTCTGTCCAAATAGTCCATGCCAGGATCATCTA
GGTGTGACACAGGTGTGTCTTGGGTATAAAGTACCTAGCCAAGGTGGGGCTTGCTGGAAGGAGTCTTGGAAGGTGTTTCAGGAATAGGACTGGGGTAAAGGTAGTTTCGGATTATGTTTGTGTAAGTGACGGGGGATGCCTTGGAGAGGTTTGGGAATGCTGGCGGATGCTTCCTGAGGTAGATGGAGAGGCCACTCAGGAATTGCTCTCATCTTCCTCCCTGAAGGGCAAGGTCATGCCCACCTGAGGATCTTACCAGAGCATGACCCCCAAGACTCCCTCTCTGTGCCCCCTCCCCTGCAGACAGCCCTCTTGGCACACTCCTCCTGTCTCTCCAGGGATGTCCATCTTGATCTGAACCTACCCCTTGCCCCAAGCCCTTTGGCCTTGCCTGCATGGCTCACTGCTTACCACACTGATCACTCCTCTGACCACTACATGCCTACTTCGTGCTTCTGCCCCAACACTCCCTTGATTCCCTCCACCCCCTTTGAACTCTCTCCCCTGGTCTCAGGGCTGATGCACACTACACAGAGGCTGTTAAAGTGTGAGATGCAGTCAAGAGTAAGAGCTTTGGAGCCTGAGTTGGAACGCTTGCTCTGCCACTAACTAGCTGTATGGCCTTGGGCAATCTAGCTAACCTCTCAGTGCCTCAGTGTCTTCATCTGTAAAATGGCAAGACTAATAGAACCTGTATCATAGGGTTGGTGTGAGGGTTAAATGAATTAACATGTCTGTTAAATGACCAGGGCCTGGACCACGGTAAGTGCTCAATAAAAATGTTAGCTCGGCTGGCTGTGGTGGCCCACATGTGTAATCCCAGCACTTTGGGAGGCCAGGCAGGCAAATCACTGGAGACCAGGAGTTTGAGACCAGCCTGGGCAAGATGGCAAGACCCTGTCTCTACTAAAAATACAAAACATGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTGACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAGAAATTAGCCGGGCATGGTGGCGGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGATCTCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAATAAATAAAAATACAAAACATTAGCTGAGCATGGTGGCACACACCAGCTACAAGGGAGACTGAGGTGGGAGGACCACCTGATCCTGGGAGGTTGAGGCTGCAGTAAGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAACAAAACAAAAGAGCTCTAATTGTGCTGAGCCCAGGGATGGGGGCAGTATGAAGGAGCTTCATTGGCGCAGAGACAACAGCTGGCCAAGGCCAGATACTTACAGAGTAGACACATACAGCGGGGCTGGGAGGCACTGCACATCTTGGGCAGGTAGAAGCTAAACTGCTAGGGACCAGGGCCTAGAAGGTAACTAAGTGCATCCTTCTTATTTCAGCTGGTCCTTTGGAGTCCTTCTTTGGGAGATAGTGAGCCTTGGTGAGTTCCTGATCCCCGTCCCCCAGAGTGCCCCACCTTACCCCACGTGGAGCCCTGGACCGAGAGCACTTTGTCCCCTCCTGCAGGAGGTACACCCTACTGTGGCATGACCTGTGCCGAGCTCTATGAAAAGCTGCCCCAGGGCTACCGCATGGAGCAGCCTCGAAACTGTGACGATGAAGTGTGAGTCACCCCATCCTTGAGCTCCATGATCCTATCTCTGTGATGAGTGACCTCAGCTTTGATCCCTGTGACCCCATCACCCCAGCTGGCCTGACTCCTCATCTCAGCAATGCCCCCTCGCAGGTACGAGCTGATGCGTCAGTGCTGGCGGGACCGTCCCTATGAGCGACCCCCCTTTGCCCAGATTGCGCTACAGCTAGGCCACATGCTGGAAGCCAGGAAGGTGAGGAGACTGGGGCTGAGGTGGCGGGCTGGGCTCACAGAGTGCTCCAGAGTGCCCTCTCAGAGGTGCCATGACCCCTGTCCCAACCACACTGCCTGCCCAACCTCCCTCAGTGGGGGCTGTCACCACGGCTAGGCTGGGCCCCAGGATGCAGCCTGCCTTTCCAGCCCTCACTGGTTTAGACACCAGGCCCTTCCAAAACTCTTCCAAGGCCACTGCTTAGCCCCAACAGCAAATCCCTACCTTAAGCCCCAAGTCCCAGACTGCTTGCCTGTCCTCTGCTGAGGCCATCAGCCTGTCCTCATCTGGGACACCTCTCCCCACCTGCCAGAGCCAGAGCAGAGTGCATGAATAGTCACTAACCAGATGGATGGATGGGTGAATGAGTGATACAGTAACCGTATGAATGAATGAATGGAATTAGTGGATAGATGATACAATAATCATATGAACATGTAATTCAATAACTCAATCTACTAACCATGTGAATAAGTGAATTATCAAATAAATATAATGAAAAATATATCAAAATTAGTAAATATGAAGAGTTCTTCAAGTAAATTAATGATTAAATAACCATCTTAAGAATGAAGGAATGATCAAATAACCATATAAATGGATGAGTCGTCTAAAATGGCTTTTGAACAGATAAGTTACTGAATGAATGAACGCATAAGCCAAGAATTCATTGAAAGAGTGCATGTAAAAACCCTCCTCTAACAATGGCATTGAGAGCCTCTCACCTGAGGCCCCAACTGTGGCCTGATGCCTTCACTGCCCTGGGCTGGTAAAGGCCACTCTTGGCCATGGGGCCATCTTAGGTCTCCAGAACAAATCAGTGTCAGTTCAAATGCCCCCACCACATGGAAGTCCAGGAGCTTGAGGCCAGATGCACCCCCATTCCTGGCCCCCACTAAAGCTTGCTCTGCCCCCAGGCCTATGTGAACATGTCGCTGTTTGAGAACTTCACTTACGCGGGCATTGATGCCACAGCTGAGGAGGCCTGAGCTGCCATCCAGCCAGAACGTGGCTCTGCTGGCCGGAGCAAACTCTGCTGTCTAACCTGTGACCAGTCTGACCCTTACAGCCTCTGACTTAAGCTGCCTCAAGGAATTTTTTTAACTTAAGGGAGAAAAAAAGGGATCTGGGGATGGGGTGGGCTTAGGGGAACTGGGTTCCCATGCTTTGTAGGTGTCTCATAGCTATCCTGGGCATCCTTCTTTCTAGTTCAGCTGCCCCACAGGTGTGTTTCCCATCCCACTGCTCCCCCAACACAAACCCCCACTCCAGCTCCTTCGCTTAAGCCAGCACTCACACCACTAACATGCCCTGTTCAGCTACTCCCACTCCCGGCCTGTCATTCAGAAAAAAATAAATGTTCTAATAAGCTCCATTCAATGTCTACCTTTTACTGCTGGTCAATCTTGGGGTGAGGGGCGTAGTTAAACCCAAGAGACAGAAACTGGCCGGGCGTGGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGCTTGAGACCATCCTGGCGAACATGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCTGGAAGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCCTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAGAGACAGAAACTGGGCTTTCTAGGAAAAGAAACACTGTCTGAGGCCTCAGCCCTCTGTTGAGGTTGCCTGTCCAGGATAGGAGGTGCTCTGGAAGACTCATTTTACACAAACACCACCAGCCCCTACCTCTGTCCTGATTAGAAGGCCAGTTTTCCCCTGTTCCCTTCCCTGCTCTCCAGCTTCCATCACTAACGTGTCTCCCTGTGTATCTCTAGGTAGCAGCCAGCCTAGGATTCTTTGTTCTGTCCAAATAGTCCATGCCAGGATCATCTA
Task1_train_795
Given this context: Chromosome 1, gene MPL (MPL proto-oncogene, thrombopoietin receptor) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
Pathogenic; Congenital amegakaryocytic thrombocytopenia
GTCAAGCCTCCTAGAATTGGCATAAAATCCACATACAGAGCAGTCCCAGGAGGAGGCTTGGGGTTCAGTGACAGGAGATGAGCACAGGCTGAAGAGCTGAGACCAGCCATCCACTGAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGCGTACCGTGGTGCAATCTTGGGTCACTGCAACCTCTGCCCCCTGGGTTTAAGAGATTCTCATGCCTCAGCCTTCTGAGTCGCTGGGACTACAGGCAAGCACTACCACGCCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAG
GTCAAGCCTCCTAGAATTGGCATAAAATCCACATACAGAGCAGTCCCAGGAGGAGGCTTGGGGTTCAGTGACAGGAGATGAGCACAGGCTGAAGAGCTGAGACCAGCCATCCACTGAATTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCCCTGTCACCCAGGCTGGCGTACCGTGGTGCAATCTTGGGTCACTGCAACCTCTGCCCCCTGGGTTTAAGAGATTCTCATGCCTCAGCCTTCTGAGTCGCTGGGACTACAGGCAAGCACTACCACGCCTAGCTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATACTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGATGATCCACCCAGCTCGGCCTCCCAAAGTGCTGGTATTATAGGTGTGAGCCACTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCCACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAG
Task1_train_796
A genomic change on Chromosome 1 affects MPL (MPL proto-oncogene, thrombopoietin receptor). Classify this variant as benign or pathogenic, and name the disease if relevant.
Pathogenic; Congenital amegakaryocytic thrombocytopenia 1
CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGTGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
Task1_train_797
A mutation on Chromosome 1 affecting MPL (MPL proto-oncogene, thrombopoietin receptor) has been found. Is it harmful or harmless? What disease, if any, does it cause?
Pathogenic; Congenital amegakaryocytic thrombocytopenia
CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGTGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
Task1_train_798
Chromosome 1 houses a mutation in gene MPL (MPL proto-oncogene, thrombopoietin receptor). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; Essential thrombocythemia
CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
CTGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGTGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTT
Task1_train_799
This sequence variant lies in MPL (MPL proto-oncogene, thrombopoietin receptor) on Chromosome 1. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Congenital amegakaryocytic thrombocytopenia 1
TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCGTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT
TGCACCCAGCCCCATCCACTGATTCAGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTAGGGATTTTGGTAAAATGCAGGTTCTATTTTTGTAGGGGCCAGCTCCACAGGGTCAGTGGGTTTTTCTCCCTGTGTGCAAAGACGAGAGATCATAGAAATAAAGACACAAGACAAAGAGATAAAAGAAAAGACAGCTGGGTCCAGGGGACCACTACCACCAAGACGCGGAAACCAGTAGTGGCCCCGAATGCCAGGCTGCGCAGTTATTTATTGGATACAAGACAAGGGGGCAGGGTAAGGAGTGTGAGCCATCTCCAATCTGAGCAAACAGGATAAAAGTACTGAAGACCATTGCTTCTCCAACTTTAAGTTACATTCAAACCATCTGGGGATTTTGGCAAAATGCAGGTTCAACTTTAATAGGCCTGGGGTGGGGCCTAAGATTCTGCATTTCTAATAAGTGCCCACCTAATGCTGTTGCTCCTGGTCTACAGACCACATTTTGAGTAGCAAGGGATTAGAGGCAGCCGTGGAGGCCACCCATAATGGAGAGGGCATTTCCAGTTCCAGGGAGAATGTGTTTATTCATGCGCAAAGTCACAGAACTATTAAAGTGGAAATACCCACCATTTGGCATGGTTGTGGGGCAGAGAGTTATTTCTCAGCAGATTAGCCTCCCAAGAGCATAGCACAGCATGGCTGTTATGCAGGTGGGTTCTGAAGGTTGACCTCCTGAGCTTTATGTCTTAGTATGTAATCTTGGGCAAATCTTTAACTTCTCTGTATCTCCGTTTCCTCATCTCTATAATGGAAATAACAAGACTATTGTGCGGATTGTCTAAGTGAATGGATATAAAGTGCTTAACACACGGCAGCATAGTAAGTGCTCAGTAAAAGTTGCTATTCTGATGCTATTATACCATTCTATAATCGTTAGCACAGATACAGAGGCTGAGTTGCCTTTTGGTACACGGTCAAATATACAACCCCCATCTCCCTCACACCAAAAGGCCTGTGTCCTCTCTTTCAAATTCCTCCTTCCCTCCTGCCCACTCCCCCTCCCCTGGCCCCTGGCCCCAGTGTGGTCTGGATGGGCCCCAGAGGGGCAGGGACAGGGACAGGACGTGGGGCTGTATCTGACAGGAACCTGAGGGGCTGGCCTGGGAGGGGATTGGGGCCCAGCTTCCTGAAGGGAGGATGGGCTAAGGCAGGCACACAGTGGCGGAGAAGATGCCCTCCTGGGCCCTCTTCATGGTCACCTCCTGCCTCCTCCTGGCCCCTCAAAACCTGGCCCAAGTCAGCAGCCAAGGTGAGGTGCACAGAGGGTGGAGATCACCTATGCCCAGGAAGAGGGAGCCCTGGGAGGTGATGCAGGGCCCCGGGAGGGGAGGTAGAGTAAGAGGCTCTCCTGCTGGTCCCCTCCCCTTCCACATAAACATGCCTGGGAGGACCCAGGGCCAACTCACCAGCTGTTCCTTAGATGTCTCCTTGCTGGCATCAGACTCAGAGCCCCTGAAGTGTTTCTCCCGAACATTTGAGGACCTCACTTGCTTCTGGGATGAGGAAGAGGCAGCGCCCAGTGGGACATACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGTGCCCCACTCCCCATGTATCTGTCCCTGCACTTAGCTGAGTCCCACTCCAGCAGCTTTCCTGCCTGTCCGAGGACCACTCTGAATACAAGCCCTAAGTACCTACTTTTTGAACAGATGTGCTTTGGATGTATGTGGGCCCCAGCTCCAGCCCTACATAACCCCTAATCCCACCTATCCCAGGCAGTGAGAAGAAAAATGGCAGTACTAGAGACAGAAGTTGGGCATGGGCCCAGGTCTGGGTCCTCAGGGCTCCGCATGGTGGCTGTGTAGGAGGGACCTCTTCTATGCCAACAGGGAGAAGCCCCGTGCTTGCCCCCTGAGTTCCCAGAGCATGCCCCACTTTGGAACCCGATACGTGTGCCAGTTTCCAGACCAGGAGGAAGTGCCTCTCTTCTTTCCGCTGCACCTCTGGGTGAAGAATGTGTTCCTAAACCAGACTCGGACTCAGCGAGTCCTCTTTGTGGACAGTGTAGGTAAGAGCCATCCTCCTGTCACCCTGCCCCCTCCACTTGCTGCCCCCAGTCCAGCTCCCGGAATCAGACTTGCCTGTGCCCTTCCAGCTCAGCACGGATACCCCTATTACCAGACCCCCTGAGGCACCCCAAGACTCCCTTGTCATTCCTCCCAGCCTTGGCATCTAGAGCTAGAAATGCCCAACAGATCATTCACACCCTGTTCCTCCCATCGTCAACAAATCATTTATTCATCCATTCAAGAGTTACAGAATACCTACTGTGTGCCAGACACTGGGCTAGGTGATGGGGATATGGAGAGAAAAAGGGATCCCTGCTTACAAGAAGCACTGAGTCTAGCAAGCCATCATACTGCAAAGAAGTCACTGTTCTCATGAGAGAAGAACAGAATCAGGAGCCTCCCTAGCCTGCCCTCCAGGAGAATGACAGCCTACAATTTTTGAATCCAGAAGCTGCCCCAATTCAGCCCCCAGCACCCCTCTCTGCAGTCCAGAGGCTGAGCCATAGACTGTGGTACTCAGAGTTCTGATGTGCCCTGTCTTGCCCTCAGGCCTGCCGGCTCCCCCCAGTATCATCAAGGCCATGGGTGGGAGCCAGCCAGGGGAACTTCAGATCAGCTGGGAGGAGCCAGCTCCAGAAATCAGTGATTTCCTGAGGTACGAACTCCGCTATGGCCCCAGAGATCCCAAGAACTCCACTGGTCCCACGGTCATACAGCTGATTGCCACAGAAACCTGCTGCCCTGCTCTGCAGAGGCCTCACTCAGCCTCTGCTCTGGACCAGTCTCCATGTGCTCAGCCCACAATGCCCTGGCAAGATGGACCAAAGCAGACCTCCCCAAGTAGAGAAGTATGCTGACCTTCTTCTGCCCCACCTCTTATCTCCTACCTTCAATCTTGCCCCAGGAAAGGACAGACCATACTTTGGGGATTCCAGACCTAGGTTCGTCCTTGGAGAGTTAGTATAGGCTCAGATATGAGCCACGCCTACTTAGGGGCTTCCTACTTTGGGTCATTCCCACTGACAAAAGCAAAGGCTTTCAGGCCTCCAAATTAATGGAGATTTCGCAACAAAACCCTGAACACCACCTGAAACCCACCAACTTAGCCCCTGGTCTGTGTGCATATCTATCCAGCAAGGAGCTGAGCTCCTCTCCACAGAGATGCTGTGCAAATATAAGGGTTGGAGGCTCTCTCAGCTGACAGGCAGACCTAGATTGTGAAGCTGGGATTTTCCTCCCAAGGCTTCAGCTCTGACAGCAGAGGGTGGAAGCTGCCTCATCTCAGGACTCCAGCCTGGCAACTCCTACTGGCTGCAGCTGCGCAGCGAACCTGATGGGATCTCCCTCGGTGGCTCCTGGGGATCCTGGTCCCTCCCTGTGACTGTGGACCTGCCTGGAGATGCAGGTGAGTCAACAAAGGAATAGGGAGATGGGGAGGAGATAAAAGAATATCTCTAGGGAAGCCTGGGCTAGATCTGAAGCTCTGGGAACCATGGTCCTTCCTGATGATCTCGAACTTGCCACTGGACAGGAACTATGTTCAGGGAAAGAAGAGAGAATAGGAGTCAATGTTCTAAGTTATATGTGTAGAAATTATCTGAAATCTGAACACCCTATACAGTAGGGGCACACGGGCCCTGATGGGACTTACTTCTTTGACTTTAGTGGCACTTGGACTGCAATGCTTTACCTTGGACCTGAAGAATGTTACCTGTCAATGGCAGCAACAGGACCATGCTAGCTCCCAAGGCTTCTTCTACCACAGCAGGGCACGGTGCTGCCCCAGAGACAGGTGAGAGCTGAACTGCTGATTGAGGTTGGTGTCATGGGAGTGAGCCACAATCTTGCAGAAAAAAAGAAGAGAGTGTTCTTGGTCCTCTTCACTCTCCTTCCTTTGTCTCCAAACCATACAGCTTTCAATGCTCTCTTATCTATTCTGTCATCCTCCAATCGATATTTT