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_13500
|
Given this context: Chromosome 9, gene KCNT1 (potassium sodium-activated channel subfamily T member 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGTGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
Task1_train_13501
|
This genomic variant is located on Chromosome 9, within the KCNT1 (potassium sodium-activated channel subfamily T member 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Seizure
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGTGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
Task1_train_13502
|
This gene mutation involves KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGTGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
Task1_train_13503
|
A mutation on Chromosome 9 affecting KCNT1 (potassium sodium-activated channel subfamily T member 1) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
ACGCCAAGGCCTACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGTGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCA
|
Task1_train_13504
|
This alteration occurs within gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCC
|
ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGATCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCC
|
Task1_train_13505
|
This alteration in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCC
|
ACGGGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGATCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCC
|
Task1_train_13506
|
A change on Chromosome 9 affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTG
|
GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCGGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTG
|
Task1_train_13507
|
This sequence change occurs on Chromosome 9, altering KCNT1 (potassium sodium-activated channel subfamily T member 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTG
|
GGTTCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCGGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTG
|
Task1_train_13508
|
The gene KCNT1 (potassium sodium-activated channel subfamily T member 1) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCC
|
TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCACCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCC
|
Task1_train_13509
|
Here is a genetic alteration in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCC
|
TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCACCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCC
|
Task1_train_13510
|
Here is a variant affecting KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCC
|
TCAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCACCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCC
|
Task1_train_13511
|
This variant affects gene KCNT1 (potassium sodium-activated channel subfamily T member 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCCC
|
CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGTCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCCC
|
Task1_train_13512
|
A variant was discovered on Chromosome 9, affecting KCNT1 (potassium sodium-activated channel subfamily T member 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGCCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCCC
|
CAAGAACAAGCTGATCATCGTCTCGGCAGAGACGGCCGGCAATGGGCTGTACAACTTCATCGTGCCACTGCGGGCCTACTACAGATCCCGCAAGGAGCTGAACCCCATCGTGCTGCTGCTGGACAACAAGTGAGGCTCCTGGGGCTCAGCCCACCCCGCCCACCCGGGCCCTCAGACCTGCAGCCAGCAGCCTCCCCAACTGGGCCCACCCTTCGCCTTTGCAGAGGGCACGGGAACATGGGGCCTCTGGCCTGGTCCTCTCAGCTTTCCTAAAAAGGGGGACTCTCCTTCCTGCTCCCAACTCCTCCTGCTCCCAGCTCCTCCCCACACCCACTCCTGCTCCCAGCTCCTCCCCACCCCCAGCTCCTCTGGCTCCTGGGTCCTCCCTGCTCCCTGTTCCCCCAGTTCCCAGCTCCACCCAACTCCCAGCTCCTCCTTGCTTCCAGCTCCCCCAGTTCCCAGCTACTCTCCATTCCCAGCTCCTCCCCACTCCCAGCTTCTCCCCACTCCCAGTTCCCCCTCACTCCCAGCTCCTCCCTGCTCCCAGTTCCTCTGGCCACCAGCTCCTCCCCACTCCCAGTTCCTCTGTCTCCCAGCTCCTCCATGCTCTCAGCTCCTGTGGCTCCCAGCTCCTCCCACTCTGGTCCTCTCTCCCCCTTTCCCCCTCCTCCCTTGTCACTCCTTCTGTCCTGTTTGCCTCCTGCTCCACTCACTCTGAGCCCCAGGATTGGGGTGGAGGGATAAATGGCTCTTCCTCCTGGGCACCTTTTTGCCCAGGGGACCCTAGGACCCTGACAGCTGAGCCCAGGGTCATCTTGGCTGTGTGACCTCAGCAGGTCCCACCCTCCCGGGCCTTGGTTTCCCCTTGAATAAAATAAAGAATGGCCCACTGGCCTTAAAGTACTCCCCAGGTCCCATACGCTGCGGTTCTGGGGAACCCCTGCCTGGCCCAGCTCTGTGCATGGAGGGTAGGGCCCCACTGGGCCTGAGGAGGGCAGGCCTTGAAGCAGGGTGGGCCCCTCCAGGACCGCTGTCCCCACAGGCCCGACCACCACTTCCTGGAAGCCATCTGCTGCTTCCCCATGGTCTACTACATGGAGGGCTCTGTGGACAAGTAAGGCGTGGCCGGCCGAGGCTCGTGGGGGCTCCACACCCACCCCTCCCCTCCTCTTCCAAAGTCTGGGGTGACCCCGACCGCAGGTGGGGTGGGGGGCTGAGGTCCTCCTGCCTTCTGACCAAATCCCGGGGTCCTGTGGGTGGGGAGTGGGCCGCATCCTCAGCCACGGGCCCTCGGTCCCGCCACCAGCCTGGACAGCCTGCTGCAGTGTGGCATCATCTATGCGGACAACCTGGTGGTGGTGGACAAGGAGAGCACCATGAGCGCCGAGGAGGACTACATGGCGGACGCCAAGACCATCGTCAACGTGCAGACCATGTTCCGGTGCGTCCAGTGTCCGGGGCTCGGCTCTAAACCACCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCGCCACAGCCACGACCACGGGCCCTCGCCCTGAGACCCCCACAGCTATGACCACAAGCCCCCACCCTGAAACCCCCACAACCACAGCCATGGGACCACACCCTGAGACCCCCACAGCCATGGACTCTGCCCAGAGACCCCCACAGCCACGACCACAAGCCCTCCACCCTGAGAGTCCCACAGCCATGACCATGGGCCTCTGCCCTGAGACCCCCCACAGCCGTGGGACCCTGCCCTGAGACCCCCATAGCCAAGACAGTGGGCCCTGCCCTGAGACCCCCCCACAGCCATGGGACCCCGCCCTGAGACCCCCACAGCCACATGATCATGGGCCCCCACCCTGAGACCTCCTACAACCACCATGGGCCCCGCCCTGAGCCGCCTGCCTCCCCCAGGCTCTTCCCCAGCCTCAGCATCACCACGGAGCTCACCCACCCTTCCAACATGCGCTTCATGCAGTTCCGCGTCAAGGACAGCTACTCTCTGGCTCTTTCCAAACTAGAAAAGGTGAGCAGCCCTGCCCCGTGCCAGCTGCCACCCCAGAATCCCAGAAAGAGTGGGAGAAAGGGGCTCAGGGGAAAGGGGGCCAGTGCCATGGGAGGCTGGGCTCCTGCCGCCCTCCTGCTGGGGAACTCAGGAGATGGCGTGGGGGGCCCAGCATGGACAGGGTGCTCTTGATGGTGGAACCAGGAGATGGAGGCAGGGCGTTTCCCTGACCGCGTGTGAGGCACTGGGAATGTGGCCCATAGCAGCCTTCCATCTCCCTGAGCAGGGACCAGGCCTGGCCGTATCTGGAGGCCAAGGCCATCTGTCCTGGCATGGTCAGTTGGTCAGAACTCCCGTGGGGAGCCCTCAGATCGGTGGTTCCACATAGGTTGGCCAGTAGCTCTTAGTACAGATAACGCACACGGCTGCACCATTCCAGACTTCTCCGCTGCCCTGGCCACTACGCCCGACCTTGAAACAGGTTCAGTATAACCACTGCCTCCTTGTATTGACAAGGGACGGAGGGCCTGAGAGGGAAGGGGCCTGCCCCGGATCGCACAGTGGAGCAAGTGGCTGAGCTGGAATTGGCTTTCTGCCCTTGGAGCTCCATGAAGGGCACCACCCAGGGTCAGGTGTGGAACCCAGGGGCACGGGCACTGTTGCTGTTGCCTTGATATCTGGCTGACCCCAGCCCCACCGCATTCCCCACCTGCTCAAGCTGGGACAGCACCACCTTGTCCACACGGGGGCTGGTGCCCAGGCAGCCCTAGGCTGAGAGCAGGGAGCAGGCACCTTGGTCAGCAGCAATGCTGTCTGCTCTACACGAACCCCGAGCTCACCGGTCTGGGCTGAAGTCCTCATCGGCGAGCTGCTGGGACCTGCGTGGCTGCAGGATTGTGACACCGTGGAGGATCTACTGAGCCAGGCCCGGCCTGGCCACCAACACCAGGCAGAGGACACACACGGGCACTCCCTGCGACACGGACATGGCTTTGTCCCACCTGAACCCGATGGAGAGTGAAAGTGTGTTCCGGCCAGCCGTGGACCAAGAGCCCATAGGGATCCTGGAGTCAGTTCTGCCCCAGAGAAGCGAGAGGAGGCCGGGCTGGGCAGCCACCAGGTCAACAGGGGCTTCTGCCTTAGAGATGCCAGCCTGAGGCGTAGGGGGATGCTCGGGCACCTGGTCTCAGCACAGGAGAGGGCTCTGTCTGCCCTGCCCGCCGCCCAAGCCCACCCTGGAGCCTGCCCTGCCCAGCGTCGGGAGCTCCTGGCCCCAGTCCCCGGCTCAGCCGGCAGAGGGGTGTGCTCTGCAGCTGGAACCACGGAAGGGGAGGAAGTTCACAGGATTCTGTGTTCGGGTGCCGGGCCGCTCCCCAGGGCTGGGAGGACTCTCCGGATCTGGAAGACCAAGTCTGACCCTGTGTGGACAGGGATGCTGCCGTGGAGTCGGGGTCGAGGCAGTCATCCTGGCGCGGCTCCTCCGGCCTCAGCCTTGCACCTCTCTGTCCCACAAGGTGGCTTGAAGTTTGGGTCAGCAAGCACGCAGCCAACACGCTCCTGCCCGCCTTCCCGCCAGGCAGCCATCGCCAATCACCCACGCTCCGCCCCGCCGTGGGGCCCATCTCTTTCCCCGGCTTCACCTCCACTGGGGCTCTGTGTTGCCGGGGCGGGTGCGGCCAGCTCTCCATCTCAGAGCAGTGAACAGTCCTGGGCTCCAGCTCCAGTCATGCGATTCCGTGGCAGTTGTGTGACAGGGACCAAGGAGAAATCAGGACATCGGCAAAGCCTCTGGAAGCAGCCGTGAGCTCCTCTGGGCTGACATGGTGCTGGGGTCCATGTGGGACAGATGCCCTGGGCCCTGGGCAGGGCCAGGCATATACAGAGACGTGGAGCCGAGGGAGGAGAGGGTGCCGTGGACCACCTGACCCATCACCCTCTGCAGAGGCTGGGATCCGCCTCCCCAGCATGCAAGGAGCCTGTAGAAGGCACCAGGGGCTGCGTCTTCTCCAGCCTGGGTGGCCTTGGCCC
|
Task1_train_13513
|
An alteration has been detected in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Developmental and epileptic encephalopathy, 14
|
GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAGCCCCGGTGTGTGAGAGGAGTCTCTCCCCTGAGGCCCACCTCCCCTGCCGTCCACCTCCCCTGGTCTCCAGCACCCAGGACTCCTCCACCACTTCATTGCTTTCACATGGTCAGCCTGTGTGATCTCTCCTCCTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTG
|
GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAGCCCCGGTGTGTGAGAGGAGTCTCTCCCCTGAGGCCCACCTCCCCTGCCGTCCACCTCCCCTGGTCTCCAGCACCCAGGACTCCTCCACCACTTCATTGCTTTCACATGGTCAGCCTGTGTGATCTCTCCTCCTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCTAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTG
|
Task1_train_13514
|
A mutation found in KCNT1 (potassium sodium-activated channel subfamily T member 1) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Autosomal dominant nocturnal frontal lobe epilepsy 5
|
GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAGCCCCGGTGTGTGAGAGGAGTCTCTCCCCTGAGGCCCACCTCCCCTGCCGTCCACCTCCCCTGGTCTCCAGCACCCAGGACTCCTCCACCACTTCATTGCTTTCACATGGTCAGCCTGTGTGATCTCTCCTCCTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCGAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTG
|
GCGGACGGATCACCTGAGGTCAGGAGTTCGAGACCAGGCTGGCCAACATGGAGAAACCTCTCTACTAAAGACACAAAAATTAGCCGGGCGTGGTGGCTGTAACCCCAGCTACTTGGGAGGCTAGGGCAGGAGAATTGTTTGAACCCGGGATGCAGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACCCTGTCTCAAAAAAAACCAAGCAAAAAAATGAAACTATTATTAAGGATGCTGCTGGTGGGGTGACATGCATCTCCCCTTGAGGGCTGGCTCCAGAAGGCTCTCAGAGCCCCGGTGTGTGAGAGGAGTCTCTCCCCTGAGGCCCACCTCCCCTGCCGTCCACCTCCCCTGGTCTCCAGCACCCAGGACTCCTCCACCACTTCATTGCTTTCACATGGTCAGCCTGTGTGATCTCTCCTCCTCACCAGGAGCCTTCCTTCAGGCTGGCTCTGCCCATCCTGGGGCTGCACGGTGCCTGTCCTGCTCCCTCTGACCGGGGGTCTCGTGCTCAGGAAGGGCTCATCCGCTCCTGTGTGCTCCTGTCTTCACTGTCACTTGTGAATGGCACCCGCTCAGCCCCTGCTGAAGCCCTCCTGTCCAGAAAGCAGGAGGAAATCTCTGGAAGGTCCTGAAACGTCCAGCTTTTTCTTTCCTTCCACGTCTCTCTCTGGCCCTGTCGTGGTTCTTGTTTCCTGTTTAGCGTTGTTCTGAGTAAAGGAAAATTAAAATTGCAAGTTGTTCTGGAATTTCACGTTCGTCTCCGCGAAGTACGGCTGGAATTCTGGATGCAAATCACCACGATTGCAAACTCACACGCCCATCGCAGCTCATCGCACCTGGTTCTTGCCCCAAGAGCGGAAACGCCGCACGAAACTAATTCCACTGTTTCTCACGCCCCAGCCTTCCCACCGGCCACTGATGAGTAAGGGCGAACCCGGAGGAAAAGGGGCTTCTGCCTGCTTGTCCTGTCGCTGTCGTGTCTTTTACCTGTGAATCGAGTTCTGGTTCCGGGGGGAAGTGTGGCCTCCGTGGGCGCACACGCCTGCCTGTGCACACTTGCTTGGAGGCCGAGCTCCAGGGTTGGGGCCCTCCGCTGAAGAATGACCCGAGAGTTGGCCACGGCCGGGTCCGGAGCCCGTGGATGTACCGCCTCACGTGACAGAAGGGCCTCTGCAGATGGGATTAAGTCACGGGCCTCGAGATGGGAGATCCTCCTGGAGCATCCGGCAGGTTCACGCCGTCAGGGTCCTTCTAGGGAGAGGCCAGAGGTCCCCATCCGGTGGGAAGAAGCTGCACGGCCAGCTCAGAAGAGGGAAGAGGGAGCCACAAGCCAAGGCAGGTGGCCTCCAGGAGCTGGAAAAGGCAAGAGAAGGAGGCCCCCAGGCCTCCAGAGGGAGCGGGGCCCTGCCCAGGCCTGGATCCAGCCTGAGACACCTCAAACTCCCGACTCCAGAAACGGGAGAGAGGAGACAGGTGTCGTTTTAGCTGCTAAGTTTGCGGTCATTTGTTACGGGAGCCCCAGGAAACTCAGTGGGTCCATTGCAAGCCTGGAGCACAGGGACGGGGAGGCCAAGGACAGCAGGGAGCCCGATGCTTGCTCCTCCTCAGCCCAGACTCCACACGCCCTCCGGCACCACTTACAAAACACCGGGGGAGGAGAGGATTATCAGGAGGATTTGGAATTTCGGGATGGCAAGAGCAGGGCGCTTGACCAAGCGCAGTGCCCATGGCAGCCGCCGGGAGTCCACCTTCTCATCAGAGCCCCACATCACTCCTCCCGGGCTCTGGCCCTGAGTGTGTCTGGGAAGATAGAGCTGGTTCAGGCCTGCCGGTGTATGCACACATGCAGACACACACTGTGTACACGTGGACACACACACCATGCACAAATGTGCACACAGGTATCATGCACACATGTACGGTGCACACACAGTGCCCTCGACCCCGTGGCTGCCGTGCCACTGGAGGGACCTCGGCACCAGCCCATCTGAGGCCCCTCCTTTCCCACAGAGGGAGCTAGAGAATGGCTCCAACCTGGCCTTCATGTTCCGCCTGCCGTTCGCCGCCGGCCGCGTCTTCAGCATCAGCATGTTGGACACACTGCTCTACCAGGTCAGCGGGGAAGCGGCAGCAGGAGGGTGGCGCCTGGGTGGGACCCCCGTCATGCCCTCAGCTCTTCAGCCTGGTCCCTGTTCTGAATGATAGGACTCCCTCTGAATGACCTTCCCTGGATTCCAAGGAGACCTCTGGGCCCTGTCCTTGCCCCAGGGATTTCTGGGCCCTTTTTGACCTATGGGTGCCTGGCAAGGGAGTTTTCTTAGAAAAGGCCTCCCAGAACTCTGCCTGTGGGTCATGTGGTGCTTGGGGACCTGGTGGTTCTGTGTGTGTGTATGCATGAGGGGTGGCGAGCCCGTGGCCGGTGGGGTATGGACCTGTGTCCCACGCCCGTGCCCGCGTGCCTCACTGTGGCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGGCCAGTCCTTCGTGAAGGACTACATGATCACCATCACCCGGCTGCTGCTGGGCCTGGACACCACGCCGGGCTCGGGGTACCTCTGTGCCGTAAGTGCCCCTGGCTGCGCTGGGCTGGGGGCGTGCTGGGCTGTCCAAGTGGGTGGATGGGCACCTGCCCCTGATTCACGGTGGCCAGGAGGCTCTGGGTGCTGCCACCTGCCCCAGCCAACTCAGGGTTCCCACCCTGCAGATGAAAATCACCGAGGGCGACCTGTGGATCCGCACGTACGGCCGCCTCTTCCAGAAGCTCTGCTCCTCCAGCGCCGAGATCCCCATTGGCATCTACCGGACAGAGAGCCACGTCTTCTCCACCTCGGAGGTTCTGGGGCAGCCTGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCCGGGGGCTGGGACTGTGGCAGCCCCTGTCCTGTGTGACCCACAGCATCCCCACCTTCAGTGTCAGGGACCTGGGCTAGATCAGCTTTGCTATTGCTGGCAGCTCCTTCCGTCTGGTCCGTGTGCCCACGTGTAGCGCTTCCAGCTGGAGCAGCCATGACCCCTACCGGGGGCAGAGAGGCTCAGGGGAGTCTTCAGGAAGAATACGGGCAGCCCCTGTGCTGCAGTCCACACAGCAGCAGGCACCGTGCCCACCAGCCCTAAGCATGTTCCGTGCAGACCCCAGGCTGAGGCGGCGTGGGGGGCAGGGGTGCGCCCACAGGTCCCAGACTGCGCCTGTTTCCTTTGCAGCCCCACGACCTCAGAGCCCAGGTAAGCAACCCCTCCGTGCCCACGCAGCTTCTGCGGAGCACCAGAACATCGCAGCTTCACATGGAGAAGCCTGCCAGGCCCCACCCACCCACCCACCCACAGGGCCCTGGGAAAGCCGAGGCAGGAGCGGGTCCCACGGATGTGTCGGCCCCAGCACGGCTCAGAGAAGGCTGTTGACACTCACTCCCTCCTGCACTGGTGGTGGGGAAGCTGAGGCCTGGGGGGAGTAGCCTGTGAGTTTGGACACCAGGTGCACCCCCGCCCCCTCCCAGGCCCCACCAAGGCAGGCAGCCCCCATGCCCATCTGGCCTGACCAGCCCCCAGCCTCCCAGGCCTTTCTGAAGGTGCCACCCAGGTGGGATGCCTACCTCTTCCCAGCACCCCACGACCCACAGGCTCTGGCACCCCACGTTCCCCAGGTTCGGGGCCTCCAAAGGGTGTGTTTGCAAGAGGGATCAGGGCTCATCTGCAGATGGAGAAATTGACACGCAGAGGGGGTGACCTCTCAGGGCAAGGCCAGGATGTGCTGGGGTCCAGATGGGTCCCAGGCCGGACCCACAGAAATAAGGGCTCAGAGAGGCGAAGGGAGCTGCCCTCAGCAGCCTGGCGAATCCCTTGACCAGGCCCGGGCAGGGTGGGTGGCCCGGCGATCTGTGCTCAGGAGGAAACCAGGCACATTCTTTCCAGAGGAGGAAGGCACATGCACCCTGGGGTCTGTCGTCGTCCTCTTCCCTAACACCCCCAGCTG
|
Task1_train_13515
|
A variant was discovered in gene LHX3 (LIM homeobox 3), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Combined pituitary hormone deficiencies, genetic form
|
GGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAAAGGGGAGAAATTTGCTTACAAAAAAGGCTGGCTTGCTGGGAGGCCACCTGGCGGGCCAGCCCTGTGTCAGAGGAGGGGCCAGGTGGGTCCCTCAGCCCCCAGAGAGGGAGCTGTGCGGTCGGCAGTGGGAGGCTCCGAAGGCACCAGCCCTCCCTTGACGCCCTGGCCCCACTTCCTCGGAAACCCCAGCAGCCCCGAGCCGCCCACCCAGGGGCAGCTCCCTCGTGTGAGGTGCAGGGTGGAGCCGGGCCTGGGTCAGAACTGAGCGTGGTCTACCTCATCCAGCCAGGAGGCGGGGCTGGCAGGGAAGTCGGGGTAACCCCCGCTGCTCCCCGTGGATAGGTCAGAACTGGGTCCGTTCCCTGCCAGCACCCTCATGGGTGGGGGCCCGCCGGGGGCTCCCGAGGGCACAAGGCCCAAGCTGGTGTCTGGGTACACCAGGCTGGAGAGGAGGGGCTGGGGGCCAGGGAGGCTCTGCGGGGCGGCGGGGGATGGGGGGACACCGTAGGGGCTGCCGGGACGCAGCTCTCGGTACTGCTCTGGGCCTGCCAGGCCTCCATGCTCCAGGGAGAAGTTGCCCAGGGCTCCCGAGGGCCGGCCCAAGGCCTGGGTGGGTTCCCCCAAGCTCCCGTAGAGGCCATTGGCCGGGCCCATTTCCGCCAAGGAAGGCTCATCTGCAACAGAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGGC
|
GGTGGGGCTGGAGGCAGAGAGGCCCCCTGTGGTCTGGGGAGAGGAGGGGGCCTCTCCCGGAGGACACAGGTGTGTCCCCGCCTCTGCAGCCTCTTGCCTCGACAGGCAAGGCCAATCTCCGACCTAAAGAGGGAGCCTCGGGGTGACGGCTCCAAGACACATGGAGCCTGGGAAGTGAAAGCACAATTATGATGATTTCTCAGTTTTAGAGATGAAAGCGTTTTTCCAGCCCTCGGGCTATGCTGGGCTGGGCTGGGCCTCAGCAAGGTGACATTTCATGTCTAGAAATAGCAGCAAGTGCTCAGTTAATTGGTCAATAAAGGGGAGAAATTTGCTTACAAAAAAGGCTGGCTTGCTGGGAGGCCACCTGGCGGGCCAGCCCTGTGTCAGAGGAGGGGCCAGGTGGGTCCCTCAGCCCCCAGAGAGGGAGCTGTGCGGTCGGCAGTGGGAGGCTCCGAAGGCACCAGCCCTCCCTTGACGCCCTGGCCCCACTTCCTCGGAAACCCCAGCAGCCCCGAGCCGCCCACCCAGGGGCAGCTCCCTCGTGTGAGGTGCAGGGTGGAGCCGGGCCTGGGTCAGAACTGAGCGTGGTCTACCTCATCCAGCCAGGAGGCGGGGCTGGCAGGGAAGTCGGGGTAACCCCCGCTGCTCCCCGTGGATAGGTCAGAACTGGGTCCGTTCCCTGCCAGCACCCTCATGGGTGGGGGCCCGCCGGGGGCTCCCGAGGGCACAAGGCCCAAGCTGGTGTCTGGGTACACCAGGCTGGAGAGGAGGGGCTGGGGGCCAGGGAGGCTCTGCGGGGCGGCGGGGGATGGGGGGACACCGTAGGGGCTGCCGGGACGCAGCTCTCGGTACTGCTCTGGGCCTGCCAGGCCTCCATGCTCCAGGGAGAAGTTGCCCAGGGCTCCCGAGGGCCGGCCCAAGGCCTGGGTGGGTTCCCCCAAGCTCCCGTAGAGGCCATTGGCCGGGCCCATTTCCGCCAAGGAAGGCTCATCTGCAACAGAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGACCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGGC
|
Task1_train_13516
|
Given this context: Chromosome 9, gene LHX3 (LIM homeobox 3) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Non-acquired combined pituitary hormone deficiency with spine abnormalities
|
GAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGTACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGGCCCACAGGACTCAGGGCTGCCGAGGGGTCCTCCTTTCCCTACACACCCTCTTCCCCAGCCAGCTTAAGTGGCCCCGCAAGTTCCGGGAGTGTGCAGGCACCGCATCCTATGTCAGGAGCTAAGGGGAAACTGACATCGGTCTAAAAATGTGTGTGAGCAAGAAAGCAGCCCAGGCCATTTCACGAGGCTGAATACTCAATTACAAAATGTTGCCAGTGCCAAGAAGGGTGCATGTGGAGCTCAAATGAAAACCCCACCCCAGGGGGATCTGCTCTCTGAAGCCCGGCAGGAAACATAGGGAAACGGGTCTTCACCATCACCTGGAGCTGGGGCACCCCATCGGGTCTCCTTCATGTTAAGCGTCATGGCCACTCTTTCTAGGGACTCCTCGCAAATGTGGCTGCCCTGCCTGGTGGCCCTGTCTGCAGGCCTCCGGGGTAAATATCAATGCCTTCCCCATCATTGGGCAGCCGCAAAATTACTTATGAGTGGACTGGACAAGCCGATCCACTGCCTTTGTGTCAGGCGTGGGTGCCCCCAACACCGTCAGAGTTACTCAAACGTCTGGCTTCCCGCTGCTTCTGCCCCCCACACCCCACTTCGGTACTGCAGGCCCCCTGGAGGAACCACACTGGGGAGGTCCAAGGGTGCCCTGTGGGAGCCTCGAGTCTGTGAGCGGGTTTTCCAGGTGTCAAGGGCTGAGGACTCCCTCTTCACTTAGAAAAAGTCTCTGGAAGAGAGGAGTGCCCGCTGAAGGGACCGGGATTTACTGACATATTGCACCCGCCTCCCTGGCTGTGGACCCCGCCGGCTCCAGCCCATCTCCCAGTGGGTGAGAGACACCAGGAAGGGGCTCCCTCGACCTCCGGCGGAAAAAACTGGGCTGCGCCTCCCCACGCAGTGGCGGGAAACCGGCGATGAATGCGCCCCGCATCCGGCAAAACCGCAGCTCCGGGTGCGGAGCGTCGAGGACCCGCTGCGCGCCCGGGGTCCCCATCGTGGG
|
GAAGCAGAGGCTCAGTCAGCGCCTGCCCTCCACCTGCGGCCCCTCAGAGTCCCATCCTGCAGGCGGAGGCACCCCTGGGTCGGAGAAAGAGTGGCTGCCCCACACCACATGACAGGTCATAACAGGCCCCTTCTACTGTTGGAGCATGGCTGCCCCTGCCCCTCCACTGCCCTCACCCCTGAGTCAGCCCAGGTGTCTCAGGCCTGGTGGGATCAGAGTCAGGAACAGCCCAGCCAGGGCCCAGGCTTTCAGGACCAGCCCCACAGCAGCCTAGGAAGGGGGCACAGATACCACCACCCACATTTTGCAGACAAGGATATTTAGTTCCAGAGTGGCTGAGTGAGTAGCCCGGGTCACGAGGCAGCCCAAAAGAGAGTGTCTTGTCCACATTCTGAGGATGGGCATCAACAGATGGGGACGCAGCATCCCCGGTGCCCGGAGAATGAAATAAATAATCCAGGCCCCACAGAAGGGTATGGAACCTTCTCTCCCTGACCCCAGGTAGCCCCCTCCCCCAACTCCAAGCAGCTGGGACTTCGACTCAGTCTTTCCCGAAATGCACTGCCCATTCTCCTAAAAATCACTGCAAGGGCTAGGAGCCAGAGAGACGGCCTGGACACGCCCACCCCCCCATGAGAAAGCCCGTAGGCGCCCAGCTTGGGGACAGGTCGGGCCACAGGGATTGTGTCCCCACCAGGGGAAAAGCAGTGGTCCGGAGTGGCCACCCAGGGCGGGGAGGGTGCTGGGGGAGCAGGTTCTGTAAGTGAAATGCTTTTGAAAGTAGAACTTAAGGAGTCCACTAACTCCATGGGAAATTCAGATCCGCGGGCTCCCTGGGACCCCTGCGACCCCGCCGACGCGCGCTCGTCCCCCCCCGAGCTCCGCGATCCCTCCGCCTACCGGGGAAGGAGACCTCAGCGTCGCTGTCCTGCCCCTCCTGAACGCTGTCCTTGTCCGACTTGGAGCCGCCGCGGGAGCGCTTCATGTTGCGGAAATACTGCCCCCAGCGCTGCCGGCCGGCGTCCTTCTTCAGCCTCTTCTCCTTGGCCCGGCGGTTCTGGAACCAAACCTGGGGGCGGGGCGGGGTGAGCGGCCGCCCGGCTCTGCGGGGGCCCCCAAGGCCGCGGGCGGGAGGGAAGCAGGGGCGAGCGCTGACCTGCACCACGCGCATGTCCAGGCCCGTCTCGGACGAGAGCTGCTCGCGCACGTGGCGCGCCGGCTTGGGCGAGGTGTTGTAAGCGCTCTTCAGCGTCTCCAGCTGCTTGGCGGTGATGGTCGTGCGCGGCCGCTTGGCCGTGGCCTCGGCCTCTGCGCGGCGGGCGAGCGGTGAGGCGCGGCAGCCCCTCCGGCCCCGGCCGGACCCCCAGCCCTCCCACCCCGGCCGGCGCGGGGACGTCGGGGCCTCAGGTGCCCACCCCCATCCCGCCCCACAGGCTTCTCGGAAGGCGCGGGCGCTGGGAGCGATTGGCAAAAACGGGCAGCACCCGGGCTGGGGTGGAGGGGGCGCCGGCGGAGGGCGGGTTCTGCCGCGGGGGCGGGGGCGGCGCCTTCCCTAAAATCGCACCTCCACGGCGCCCCCGCCTTCAGCCTTGGCTCCCTTCTCCAAGCACCCTGATTTCCCCGCGGGCTCCCCTTTATTCTAAGGGTGTGGGTATGGCCCAGCCTTCGCGGCCAAGAATTTAGGGCGATAATTCCGACCAGGGGCGAAAAGCCGCACACTTCGGACCGAACGAAGCGGTTCGGGACGCGGGTCTGTCCGTGACTCCGCCGTTCCCGGCCTCGGCTTCCTGCTGCCTACACCGCCCTAGCCCAGGCCCCCTTAGTGAGCGCTTGGGGAGAGAATTTCCCCGGACGCCCCCCTGGGCGTGGCCTCAGCCCCATTTTTTTCAGACCAGGAAAGGTGGGAGCGTCGTCCCCTCGGCTGACCTCGCTGCTTGGCGGTTTCGTAGTCCGCCTTGCACACGAGCCGGCTGTCCTCCATGAGGTAGAACTCGTCGCCCGTGGCCAGCTGCCGCTTGCACACGACGCAGGCAAAGCAGTGCAGGTGGCACACGAAGTCCTGGGCGCGGCGCACCACCTGCGTGGGCGGGATGCCCAGCTGGCACGCGGCGCACTTGGTCCCGAAGCGCCTGCGGGACGCACAGGGCCGGGCTCAGCGCGGAAGCGCGAGGCTCATTTCGCCCCGAGCGGGTTGGAGAGAGGCAAGCGGCTGCCTGGGAAGGCGGCCCCGGAGGAAGGCTCTGTCCGGCCCTGCAGGGTGGTCGCCAGCCTGGCCGCCGGGGCAGAGCTGCCCACTCCCACTGAGAAGGGAACCTCAATCTCAGAAAGACCTCGGGGAGCCCAGCCGCCATTGCCTGCAGGACCCATGCTGGATCTGGGAAGGTGAATCCGGAGGGAGAGGACCCATCTGGGGCCAGTCCCTCACACCCCACAGCTGGAGCCATGAAGGCCACTGGGCCAGAGCCGCTGGGTGCCAGCATTAGGAACTAAAACATCACCAATTTCGGAGGAACTAAGTCCAGTAGAATCCTACAAATAGGGGTGTATCTTCTCTAATGACTGCTTCTGTGATTTAGGTAATAAATTGCTTTTTTTTCCAAATAATACTTGCTGATGTCCCAGCCAGGCCCAGCCACCCAGGGAGCACCCATGGAGAGGCCCCACCCTTAATTTGGCCAGGCCACAGGGTGCCCTGCCTGGGTGACAGGAGTGGGCTGGGATTGCGAGAGACGCAGGCTTCGAGGGCCTGGCCTTGGTGATTGTGAGGGGAGGAGTCCCTGGGGCAGGCGTGCCCTCCGCTCCCACACTGAGGTGAGGTTTCGGGGCTCACTTGAAAAAGTCGTCCTTGCAGTAAACGCTCTCCCCTCGGCTGAAGCAGCGCTCGGCCAGTGGCGTGTGGCAGTCGCTGCACTTGAGACACTTGCTGTGCCAGTGGCGGTCCAGAGCCTTGAGGATGAAGCGGTCCAGGATGTGCTGGTCACAGCCAGCGCACAGCGGGATCTCTGTGGGCACGAGGAAGTTCTGGGTCACCTCGTAGACCAGGAGGCAGTGAAGCCACCTTCCCACCCCAACGCGAGCCAGTCTCCCCTCCGGCCCACAGGACTCAGGGCTGCCGAGGGGTCCTCCTTTCCCTACACACCCTCTTCCCCAGCCAGCTTAAGTGGCCCCGCAAGTTCCGGGAGTGTGCAGGCACCGCATCCTATGTCAGGAGCTAAGGGGAAACTGACATCGGTCTAAAAATGTGTGTGAGCAAGAAAGCAGCCCAGGCCATTTCACGAGGCTGAATACTCAATTACAAAATGTTGCCAGTGCCAAGAAGGGTGCATGTGGAGCTCAAATGAAAACCCCACCCCAGGGGGATCTGCTCTCTGAAGCCCGGCAGGAAACATAGGGAAACGGGTCTTCACCATCACCTGGAGCTGGGGCACCCCATCGGGTCTCCTTCATGTTAAGCGTCATGGCCACTCTTTCTAGGGACTCCTCGCAAATGTGGCTGCCCTGCCTGGTGGCCCTGTCTGCAGGCCTCCGGGGTAAATATCAATGCCTTCCCCATCATTGGGCAGCCGCAAAATTACTTATGAGTGGACTGGACAAGCCGATCCACTGCCTTTGTGTCAGGCGTGGGTGCCCCCAACACCGTCAGAGTTACTCAAACGTCTGGCTTCCCGCTGCTTCTGCCCCCCACACCCCACTTCGGTACTGCAGGCCCCCTGGAGGAACCACACTGGGGAGGTCCAAGGGTGCCCTGTGGGAGCCTCGAGTCTGTGAGCGGGTTTTCCAGGTGTCAAGGGCTGAGGACTCCCTCTTCACTTAGAAAAAGTCTCTGGAAGAGAGGAGTGCCCGCTGAAGGGACCGGGATTTACTGACATATTGCACCCGCCTCCCTGGCTGTGGACCCCGCCGGCTCCAGCCCATCTCCCAGTGGGTGAGAGACACCAGGAAGGGGCTCCCTCGACCTCCGGCGGAAAAAACTGGGCTGCGCCTCCCCACGCAGTGGCGGGAAACCGGCGATGAATGCGCCCCGCATCCGGCAAAACCGCAGCTCCGGGTGCGGAGCGTCGAGGACCCGCTGCGCGCCCGGGGTCCCCATCGTGGG
|
Task1_train_13517
|
Given this variant in gene PMPCA, LOC130003010 (peptidase, mitochondrial processing subunit alpha| ATAC-STARR-seq lymphoblastoid active region 29308) on Chromosome 9, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Autosomal recessive spinocerebellar ataxia 2
|
ACTTTTCCCTTCTCCCTCTTGCCACCGCCTTCCCACCCTCCGGGGACTTAAGCAGCCACACTCGACCCTCCCAGCTGTGAGCCCCATGTAAAGCTGGCTCCTGTGGCCCCAGCCCCCCAGGTGGGGCTTCCCCGCTCCCTGATGTCACCTCGCTGCTACTCTAGGATCAAGACTGAACCCTTGAAATCCCACCCCCACCTGCTCTTTTGGGCTCCAGCTACACCACATAGCCAGTCACATTGACAGTCCCACCAGACACGTGCCTGGCACTGTGTTGGATGGAGACAAGAAGAAAAGGTTGCTGAACTACTCTACCTCCAAAATGTGTCCCGTGGGCTCCTGACGGGCTCTGCTTAGAACATTTCCCCTTTCCATAGCCAAAATCTGCAAAGAAACAATGTCACCCACCATGCTGGCAGGAAGTCTTTATGACCTCACATTTGGTTTTTTTCTTTTGCACATGGAGTCTCCACTGCAGTGGTTCTCACAGTCTAGAGAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAAGCTGGAGTGCAGTGGTGCGATCTCGGCTCCCTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTGTAGAGACGGGTTTTCACCCTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGTCAGCCGAGAAAACTTTAAAAAAAACACAAGCTCCCAGACTTGTGACCCTGGAGATGGCCTGACTTGCAGACTGGCCCTGGTGTCCGTGGTCTGAAAGCGGCTCCTCAGCAGATTTTGAAGCCCAGCCGGGGCAAGCGCGTCCTCTTGTCTTGTGACAACCCCCGAATGTCCTCAGATCCTGGCATAACCACACAAACACTCCTGCACACCCCGGGCACCCAGCAGCACTTCTGCTTGGGTAGAACGAGGACGAACCAGATCTGGCCACTGCCCGGCTGTGGAGGCAGATGGAATGCTCCAGCTCGGTTTCCAATCACTGCCCACTAGGTGAAGGCACCCCGACTCCAGCCCCACGAGGAAAGCGGGCGGGCTCCTGTGCTCCCCGGGCACTAACCATCCTGTACTGGAACTGTCTGTCTTGGGGGAGGTCTCCCCGCAACCAGACTGTGAGCTCCTAGCAGGGGACTCCGCCTTTGAATTCCGAGTGCCTGGCACGCAGTGAGCGCTCTGCACATTGATGGGTCAATGGACGAGCTCGTGCTGCAGCGGAGGTGCCACACGTGGCGCGGGAACTGGAAGCGTCCCCGGGGCCGGCGCCCTCGTCTCTCACCTGTGTCTCCCACGGAAGCCAGCACCGGGCTGGGCACATAGCACATAAAGGCCGGCCGAATGCCGAAGAAGGGGGAGTCCAGGTCCCTGCCATGGGGGCGCTCACAATTTAGCTGGGGGAGACAAGACCGGCGCTCATAGAACGCTGGAGCTGGAAGCAACGACAACAGCGACTTTACTGCGTGCCGGGGCGGCCGCCGCCCACCTGGACCGCTGGACTCGGCCCCTGCCCCGCTCACCGTCGGGAATGGCGAGGCTCCGGGCTCGGGACAGCGGGGTGGCGCCCGGGCGGCGCTGGTAGCCCGACATCGCCGCCGGCCCGGCGGGGCACGACCTGCCTAGCCCGGCAGCGGCGGCTCCATGGCCCCGGCTCCGCCCGTGCCGCGGCCCGCGTCGCCCGCCCCCGTCGCCCGCCCCCGTCGCCCGCCGCTCGGCCGCCCCCGCGCCTCCGAGCCTCTCGCCGCTGCTTCCGCTCCGAGCACCGAAAGCGCGTGCCTGAACGCCTTGGGCCGTCGGCGAGGGGGAGGGGAAGCCGTGGGCGGAAGCGGAAGTGACGACTGAAGCGGGGCGGAGACGCAAGATGGCGGCTGTGGTGCTGGCGGCGACGCGGTTGCTGCGGGGCTCGGGTTCTTGGGGCTGTTCGCGGCTGAGGTGAGCCAAAGGCGAACCAGGCTTCGGCCTGGGGCGGGGGCGGCTCGAGTCTTTCTGGACGCTCCGTCTTCGGTTTCTACAGGTGACATGGCGCCCGTGGGACGGGCTCGCACTTCGGGACACTGGTGTCCCCGAGGCGACGGGGGCCCTGCCTTGCTTTGCGCCTCGAGCCCGGGGACGCAGTCCCATCTGTCTCTCCTCTCCCCGGCTGCTGGGTCCTCTCCCCCCCTCACTTCCCGGGTCGACGGGCCTTCTCCGAGGCCATGCCTCATATTTGCCCCCGCGCTTCACCTACCGCGTGCTCCTTCAGGAGGCTGAGCCGGTGGGGGCCCAGCTCTGTTAGACCCGCAGGGTTCTGACACCAGGGTCCAGGCTCTCGGTTGCTGCGGTCTGTCCGTTGATCTCTGACGTTTAAGAACCCTTTCCGTACCCACCGCTCCTCCCACCCAAGTGACCGGGCCTGCCTTTCCCCACGCTGGAACTTTGTTCCGACAGCACAGGCGTCGCCCCTCCCCACACAACGAGCGCCGTTTCAGGGGTGCGGAGGTGCTGCCTCCAGGAGATGGATACAGGCTGGAGCGTAAACAAAATATCGGCAGTCGCGTAAATGCTTTGGAGTAAACAAGCAGCCTTTCATGATAGAAAATAGCAGGAAAGACTAGACTGGTGAGGGATAGTCCTCCATCAGGGTGACATTTAAGGGAAGAGCTGAAGAATGAAAGAAGGGGTAGGCATGGGCAAAGGGCAAGCCCTGGAACGGTGAAGAAGCTTTGGGGTTGATGAGTCAAATGTGTTCCAGGAATTGACAAGAATCAGTGTGACCAGGACCTATGGGAGTGTGGGGGTTCAAGAGATGAGTTTGGAGAGGGAGACAGAGGCCAAGTCACACCCCGCCTTCGGACCAGGTTAATAAGGGATATGGCTTTTATCCAAGACTTCGGTGGTGCTGTTGGAGGGCAGAGCTGTTAAGTGCTTTATGTGTACAAACTGCACTTAGAGTGAGTTACTGTTAATAAGCCCTGTTTTTACAGAGATAGCAACTAAGACCCAAAGGACGGAACCAGCTTGCTCCAGGTCCCGTGGCTGAGCCTTTGTTGTCAGCCTCTGCTTTGTCTTCCAAAGTCTGTAGAAATAAGTCCTGTAGAAAGGCAGATGCTCACTTTTAACCCAGACAAAACATAACTAACCGCACCTAACAGGTCATCACAGGTTTGTTGTCTCAAGCCTGTTGTAACTGGGCCGCTTTCTCTGTTTTAGGTTTGGACCTCCTGCGTACAGACGGTTTAGTAGTGGTGGTGCCTATCCCAACATCCCCCTCTCTTCTCCCTTACCTGGAGTACCCAAGCCTGTTTTTGCTACAGTTGATGGACAGGAAAAGTTTGAAACCAAAGTAACCACATTGGATAATGGGCTTCGCGTGGCATCTCAGAATAAGTTTGGACAGTTTTGTACAGTAGGAAGTAAGTACTGTTGTGTTGTCGTGGGTGGTCCCGCAGTTTTAACATGCACATGCTTTAGTTGACTGTTAGTTGTAATTAGCATGCCAATTATGAATTGTACCCTGAGTGGAAACAAAGTGTACGATTTCATAAATGTTGAGCTACACATATACCTGTGAAACCATCAGCACAATCACCCTCATGTAATTAAATCTGATTATCATGTCATATTGACATCTTAAAATGTTTCTCTTGATTAAATCTTATTTTGAATATCTGATGTAACCTGTCAATTTTCTTTTTACTACTAGTTCTTATCAATTCAGGATCGAGATATGAAGCGAAATACCTTAGTGGAATTGCTCACTTTTTGGAAAAATTGGCATTTTCGGTCAGTACCCAGTTTTGTAATTTTTTAGACTATACTTTTGAAGGATGTTTGAGATTTTTCTTGTCTATAATGGTTATTTTAATAAATTATCAAGTTGCTAAGTTAATGTTAATAAAAGACTTTTAAGTTAAAAGATAATTTTTGTATGTGTGTTAAAAGCAAAAGTAGATTTTAAAAAAAAATTGTGTTTCAGGGATAGCCTGGATTGCT
|
ACTTTTCCCTTCTCCCTCTTGCCACCGCCTTCCCACCCTCCGGGGACTTAAGCAGCCACACTCGACCCTCCCAGCTGTGAGCCCCATGTAAAGCTGGCTCCTGTGGCCCCAGCCCCCCAGGTGGGGCTTCCCCGCTCCCTGATGTCACCTCGCTGCTACTCTAGGATCAAGACTGAACCCTTGAAATCCCACCCCCACCTGCTCTTTTGGGCTCCAGCTACACCACATAGCCAGTCACATTGACAGTCCCACCAGACACGTGCCTGGCACTGTGTTGGATGGAGACAAGAAGAAAAGGTTGCTGAACTACTCTACCTCCAAAATGTGTCCCGTGGGCTCCTGACGGGCTCTGCTTAGAACATTTCCCCTTTCCATAGCCAAAATCTGCAAAGAAACAATGTCACCCACCATGCTGGCAGGAAGTCTTTATGACCTCACATTTGGTTTTTTTCTTTTGCACATGGAGTCTCCACTGCAGTGGTTCTCACAGTCTAGAGAACTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCGCCCAAGCTGGAGTGCAGTGGTGCGATCTCGGCTCCCTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCATCCTCCCGAGTAGCTGGGACTACAGGCACCTGCCACCACGCCCGGCTAATTTTTTTGTATTTTTTGTAGAGACGGGTTTTCACCCTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACTGCGCCCGGTCAGCCGAGAAAACTTTAAAAAAAACACAAGCTCCCAGACTTGTGACCCTGGAGATGGCCTGACTTGCAGACTGGCCCTGGTGTCCGTGGTCTGAAAGCGGCTCCTCAGCAGATTTTGAAGCCCAGCCGGGGCAAGCGCGTCCTCTTGTCTTGTGACAACCCCCGAATGTCCTCAGATCCTGGCATAACCACACAAACACTCCTGCACACCCCGGGCACCCAGCAGCACTTCTGCTTGGGTAGAACGAGGACGAACCAGATCTGGCCACTGCCCGGCTGTGGAGGCAGATGGAATGCTCCAGCTCGGTTTCCAATCACTGCCCACTAGGTGAAGGCACCCCGACTCCAGCCCCACGAGGAAAGCGGGCGGGCTCCTGTGCTCCCCGGGCACTAACCATCCTGTACTGGAACTGTCTGTCTTGGGGGAGGTCTCCCCGCAACCAGACTGTGAGCTCCTAGCAGGGGACTCCGCCTTTGAATTCCGAGTGCCTGGCACGCAGTGAGCGCTCTGCACATTGATGGGTCAATGGACGAGCTCGTGCTGCAGCGGAGGTGCCACACGTGGCGCGGGAACTGGAAGCGTCCCCGGGGCCGGCGCCCTCGTCTCTCACCTGTGTCTCCCACGGAAGCCAGCACCGGGCTGGGCACATAGCACATAAAGGCCGGCCGAATGCCGAAGAAGGGGGAGTCCAGGTCCCTGCCATGGGGGCGCTCACAATTTAGCTGGGGGAGACAAGACCGGCGCTCATAGAACGCTGGAGCTGGAAGCAACGACAACAGCGACTTTACTGCGTGCCGGGGCGGCCGCCGCCCACCTGGACCGCTGGACTCGGCCCCTGCCCCGCTCACCGTCGGGAATGGCGAGGCTCCGGGCTCGGGACAGCGGGGTGGCGCCCGGGCGGCGCTGGTAGCCCGACATCGCCGCCGGCCCGGCGGGGCACGACCTGCCTAGCCCGGCAGCGGCGGCTCCATGGCCCCGGCTCCGCCCGTGCCGCGGCCCGCGTCGCCCGCCCCCGTCGCCCGCCCCCGTCGCCCGCCGCTCGGCCGCCCCCGCGCCTCCGAGCCTCTCGCCGCTGCTTCCGCTCCGAGCACCGAAAGCGCGTGCCTGAACGCCTTGGGCCGTCGGCGAGGGGGAGGGGAAGCCGTGGGCGGAAGCGGAAGTGACGACTGAAGCGGGGCGGAGACGCAAGATGGCGGCTGTGGTGCTGGCGGCGACGCGGTTGCTGCGGGGCTCGGGTTCTTGGGGCTGTTCGTGGCTGAGGTGAGCCAAAGGCGAACCAGGCTTCGGCCTGGGGCGGGGGCGGCTCGAGTCTTTCTGGACGCTCCGTCTTCGGTTTCTACAGGTGACATGGCGCCCGTGGGACGGGCTCGCACTTCGGGACACTGGTGTCCCCGAGGCGACGGGGGCCCTGCCTTGCTTTGCGCCTCGAGCCCGGGGACGCAGTCCCATCTGTCTCTCCTCTCCCCGGCTGCTGGGTCCTCTCCCCCCCTCACTTCCCGGGTCGACGGGCCTTCTCCGAGGCCATGCCTCATATTTGCCCCCGCGCTTCACCTACCGCGTGCTCCTTCAGGAGGCTGAGCCGGTGGGGGCCCAGCTCTGTTAGACCCGCAGGGTTCTGACACCAGGGTCCAGGCTCTCGGTTGCTGCGGTCTGTCCGTTGATCTCTGACGTTTAAGAACCCTTTCCGTACCCACCGCTCCTCCCACCCAAGTGACCGGGCCTGCCTTTCCCCACGCTGGAACTTTGTTCCGACAGCACAGGCGTCGCCCCTCCCCACACAACGAGCGCCGTTTCAGGGGTGCGGAGGTGCTGCCTCCAGGAGATGGATACAGGCTGGAGCGTAAACAAAATATCGGCAGTCGCGTAAATGCTTTGGAGTAAACAAGCAGCCTTTCATGATAGAAAATAGCAGGAAAGACTAGACTGGTGAGGGATAGTCCTCCATCAGGGTGACATTTAAGGGAAGAGCTGAAGAATGAAAGAAGGGGTAGGCATGGGCAAAGGGCAAGCCCTGGAACGGTGAAGAAGCTTTGGGGTTGATGAGTCAAATGTGTTCCAGGAATTGACAAGAATCAGTGTGACCAGGACCTATGGGAGTGTGGGGGTTCAAGAGATGAGTTTGGAGAGGGAGACAGAGGCCAAGTCACACCCCGCCTTCGGACCAGGTTAATAAGGGATATGGCTTTTATCCAAGACTTCGGTGGTGCTGTTGGAGGGCAGAGCTGTTAAGTGCTTTATGTGTACAAACTGCACTTAGAGTGAGTTACTGTTAATAAGCCCTGTTTTTACAGAGATAGCAACTAAGACCCAAAGGACGGAACCAGCTTGCTCCAGGTCCCGTGGCTGAGCCTTTGTTGTCAGCCTCTGCTTTGTCTTCCAAAGTCTGTAGAAATAAGTCCTGTAGAAAGGCAGATGCTCACTTTTAACCCAGACAAAACATAACTAACCGCACCTAACAGGTCATCACAGGTTTGTTGTCTCAAGCCTGTTGTAACTGGGCCGCTTTCTCTGTTTTAGGTTTGGACCTCCTGCGTACAGACGGTTTAGTAGTGGTGGTGCCTATCCCAACATCCCCCTCTCTTCTCCCTTACCTGGAGTACCCAAGCCTGTTTTTGCTACAGTTGATGGACAGGAAAAGTTTGAAACCAAAGTAACCACATTGGATAATGGGCTTCGCGTGGCATCTCAGAATAAGTTTGGACAGTTTTGTACAGTAGGAAGTAAGTACTGTTGTGTTGTCGTGGGTGGTCCCGCAGTTTTAACATGCACATGCTTTAGTTGACTGTTAGTTGTAATTAGCATGCCAATTATGAATTGTACCCTGAGTGGAAACAAAGTGTACGATTTCATAAATGTTGAGCTACACATATACCTGTGAAACCATCAGCACAATCACCCTCATGTAATTAAATCTGATTATCATGTCATATTGACATCTTAAAATGTTTCTCTTGATTAAATCTTATTTTGAATATCTGATGTAACCTGTCAATTTTCTTTTTACTACTAGTTCTTATCAATTCAGGATCGAGATATGAAGCGAAATACCTTAGTGGAATTGCTCACTTTTTGGAAAAATTGGCATTTTCGGTCAGTACCCAGTTTTGTAATTTTTTAGACTATACTTTTGAAGGATGTTTGAGATTTTTCTTGTCTATAATGGTTATTTTAATAAATTATCAAGTTGCTAAGTTAATGTTAATAAAAGACTTTTAAGTTAAAAGATAATTTTTGTATGTGTGTTAAAAGCAAAAGTAGATTTTAAAAAAAAATTGTGTTTCAGGGATAGCCTGGATTGCT
|
Task1_train_13518
|
This variant affects the gene PMPCA (peptidase, mitochondrial processing subunit alpha) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Autosomal recessive spinocerebellar ataxia 2
|
CCCGGCTCCGCCCGTGCCGCGGCCCGCGTCGCCCGCCCCCGTCGCCCGCCCCCGTCGCCCGCCGCTCGGCCGCCCCCGCGCCTCCGAGCCTCTCGCCGCTGCTTCCGCTCCGAGCACCGAAAGCGCGTGCCTGAACGCCTTGGGCCGTCGGCGAGGGGGAGGGGAAGCCGTGGGCGGAAGCGGAAGTGACGACTGAAGCGGGGCGGAGACGCAAGATGGCGGCTGTGGTGCTGGCGGCGACGCGGTTGCTGCGGGGCTCGGGTTCTTGGGGCTGTTCGCGGCTGAGGTGAGCCAAAGGCGAACCAGGCTTCGGCCTGGGGCGGGGGCGGCTCGAGTCTTTCTGGACGCTCCGTCTTCGGTTTCTACAGGTGACATGGCGCCCGTGGGACGGGCTCGCACTTCGGGACACTGGTGTCCCCGAGGCGACGGGGGCCCTGCCTTGCTTTGCGCCTCGAGCCCGGGGACGCAGTCCCATCTGTCTCTCCTCTCCCCGGCTGCTGGGTCCTCTCCCCCCCTCACTTCCCGGGTCGACGGGCCTTCTCCGAGGCCATGCCTCATATTTGCCCCCGCGCTTCACCTACCGCGTGCTCCTTCAGGAGGCTGAGCCGGTGGGGGCCCAGCTCTGTTAGACCCGCAGGGTTCTGACACCAGGGTCCAGGCTCTCGGTTGCTGCGGTCTGTCCGTTGATCTCTGACGTTTAAGAACCCTTTCCGTACCCACCGCTCCTCCCACCCAAGTGACCGGGCCTGCCTTTCCCCACGCTGGAACTTTGTTCCGACAGCACAGGCGTCGCCCCTCCCCACACAACGAGCGCCGTTTCAGGGGTGCGGAGGTGCTGCCTCCAGGAGATGGATACAGGCTGGAGCGTAAACAAAATATCGGCAGTCGCGTAAATGCTTTGGAGTAAACAAGCAGCCTTTCATGATAGAAAATAGCAGGAAAGACTAGACTGGTGAGGGATAGTCCTCCATCAGGGTGACATTTAAGGGAAGAGCTGAAGAATGAAAGAAGGGGTAGGCATGGGCAAAGGGCAAGCCCTGGAACGGTGAAGAAGCTTTGGGGTTGATGAGTCAAATGTGTTCCAGGAATTGACAAGAATCAGTGTGACCAGGACCTATGGGAGTGTGGGGGTTCAAGAGATGAGTTTGGAGAGGGAGACAGAGGCCAAGTCACACCCCGCCTTCGGACCAGGTTAATAAGGGATATGGCTTTTATCCAAGACTTCGGTGGTGCTGTTGGAGGGCAGAGCTGTTAAGTGCTTTATGTGTACAAACTGCACTTAGAGTGAGTTACTGTTAATAAGCCCTGTTTTTACAGAGATAGCAACTAAGACCCAAAGGACGGAACCAGCTTGCTCCAGGTCCCGTGGCTGAGCCTTTGTTGTCAGCCTCTGCTTTGTCTTCCAAAGTCTGTAGAAATAAGTCCTGTAGAAAGGCAGATGCTCACTTTTAACCCAGACAAAACATAACTAACCGCACCTAACAGGTCATCACAGGTTTGTTGTCTCAAGCCTGTTGTAACTGGGCCGCTTTCTCTGTTTTAGGTTTGGACCTCCTGCGTACAGACGGTTTAGTAGTGGTGGTGCCTATCCCAACATCCCCCTCTCTTCTCCCTTACCTGGAGTACCCAAGCCTGTTTTTGCTACAGTTGATGGACAGGAAAAGTTTGAAACCAAAGTAACCACATTGGATAATGGGCTTCGCGTGGCATCTCAGAATAAGTTTGGACAGTTTTGTACAGTAGGAAGTAAGTACTGTTGTGTTGTCGTGGGTGGTCCCGCAGTTTTAACATGCACATGCTTTAGTTGACTGTTAGTTGTAATTAGCATGCCAATTATGAATTGTACCCTGAGTGGAAACAAAGTGTACGATTTCATAAATGTTGAGCTACACATATACCTGTGAAACCATCAGCACAATCACCCTCATGTAATTAAATCTGATTATCATGTCATATTGACATCTTAAAATGTTTCTCTTGATTAAATCTTATTTTGAATATCTGATGTAACCTGTCAATTTTCTTTTTACTACTAGTTCTTATCAATTCAGGATCGAGATATGAAGCGAAATACCTTAGTGGAATTGCTCACTTTTTGGAAAAATTGGCATTTTCGGTCAGTACCCAGTTTTGTAATTTTTTAGACTATACTTTTGAAGGATGTTTGAGATTTTTCTTGTCTATAATGGTTATTTTAATAAATTATCAAGTTGCTAAGTTAATGTTAATAAAAGACTTTTAAGTTAAAAGATAATTTTTGTATGTGTGTTAAAAGCAAAAGTAGATTTTAAAAAAAAATTGTGTTTCAGGGATAGCCTGGATTGCTTATTTAGGTTTCCTTATTTATTTTTACTAGTCTACTGCTCGATTTGACAGCAAAGATGAAATTCTGCTTACGTTGGAAAAGCATGGGGGTATCTGTGACTGCCAGACATCAAGGTACACCAGCTTTTGTGTACAAACTGACTTTGGGTCCTTGGGAACTGACGTTCTTGTCGTTGCTCAGATTCCCTCTGAGCCCCTCCCAGCGGGAGGTGTGGAGATTCACGGGGAGAAGGAGCCCTGTCCTGGATGGAGACTTGGGTGGATGGCGCTTACACAGAGAAGCACAGCCCCCAGGAGCTCAGTTGACCCCCGTCAGTTCCTCCAGGCTGTTGGCTGCATGCCAGGGATGTAGAGCAGGCCCTGTTCCCAGATAGAGCAGAGGGCCTTGCATACGTAATGGACCCCGTAGCCAAAGGCGGTAGGAGCCAGGAGGATGAGTGGCTGACTTGGTCTGGAGTTGGGAAAGGAATCATAGGAAATGCAGGGTTGGGCTGGTTCCAGAAGGAGTTTGCTAGACACACGGGGCACAAGGCATTCCAGACCAGGAGACAGCAGGGGCAAAAGGCACCGAGCCAGGGAGGTGCCGGCTGCTTGGTGGAGGGAGGGGGCAGTGTTGCCTCGAGCACAGTGCAGTGGTCTTTGCATGCCAGGTGTGGAGCTTGTTCAGAAAGCACTGGGCAATGTGAGATGGGTGAATATAGATCACAGATTTTTAAAATTGTTGATTTAAGTTTGAATGCTAAAAAAATTACACATAAAAGACACATTAAATGCTAAGAATTAAAGTTAGCTTGGAGGTAACATATTCATGTTCTAAAACAAGGCCTCTTAATACCCCCTGACTCCCAGCTGCCCCTGCCAGGTTCCTGCCTGGTGTGTTTGATTCTCCGACTCTTGCCTCGAATCTCACTCATCCCAGATGAACTCCTTTCTCTGGCCAGGTGGCTGGTGTCCTGACTCAGACCCAGCCCCCCTCGCCCTCAGCTCAGGCTTTTGTTCTTGCCATTCTCCCCATGTGGAGAGCCAAAGTCACTGAGAATGGCTCCTCTTCAGGGTGAAGGTCCAGCCAAGTCCCCTCTTCAGAGGCACTGGTGACTGCGTCCTGCCTCCCAAGCTCCCTCTTCTTCGTGGCTGTTGCGTCTGCTCTGCATGGTCTCCCTTGATCACACTTGATCTCAGAGCACCCCATGATTTCGTGCCTGTCCCATGGGCCAGCTCTGTGCACTTCTGACTGTGCAGTGCCTCATGCCGGGAACAGATGTTACAGTGAGACAAGCTCCATACGAGCCAGCCATTGCTGTCCCCCAAGCCAGCCAAGGCCGGGCATGTTTCCACACTCACCAGTGGGTTCGTTCAGTCAACAGGAGGCTGGGATGAAACACTTCACCTTTTGAGAGAGAGTATAGTTACAAAAATCTGTATCAGAAGTGGCTCCATTTTGACTCAAGCTGTGTGTAGCTGTGAGTCCTGCCTACCAAGCATTCACACTGTAAGACAGGAAAAGAGAAAGGGGAAAAGTGTCTGCTGTTCCCCGATGAAGGGTAGGAGGTGTCCCCTGGCACGCAAAGCCCAAGCGTCCCTGAAATGTCTGCTGGGCCCCAACAAAAGGTAGGTGCCCCTGGCATGCAAAGCCCAAGTGTCCCCTGGCTGTTGAGCAGAGTGTGAGCTCAGGGCCTGGCATTGTCCACCTGGCACGCAAAGCCCGAGCGTCCCCTGGCTGTTAAGCAGAGTGTGAGTTCAGGGCCTGGCATTATGGGCTTGTGTTTTCTTC
|
CCCGGCTCCGCCCGTGCCGCGGCCCGCGTCGCCCGCCCCCGTCGCCCGCCCCCGTCGCCCGCCGCTCGGCCGCCCCCGCGCCTCCGAGCCTCTCGCCGCTGCTTCCGCTCCGAGCACCGAAAGCGCGTGCCTGAACGCCTTGGGCCGTCGGCGAGGGGGAGGGGAAGCCGTGGGCGGAAGCGGAAGTGACGACTGAAGCGGGGCGGAGACGCAAGATGGCGGCTGTGGTGCTGGCGGCGACGCGGTTGCTGCGGGGCTCGGGTTCTTGGGGCTGTTCGCGGCTGAGGTGAGCCAAAGGCGAACCAGGCTTCGGCCTGGGGCGGGGGCGGCTCGAGTCTTTCTGGACGCTCCGTCTTCGGTTTCTACAGGTGACATGGCGCCCGTGGGACGGGCTCGCACTTCGGGACACTGGTGTCCCCGAGGCGACGGGGGCCCTGCCTTGCTTTGCGCCTCGAGCCCGGGGACGCAGTCCCATCTGTCTCTCCTCTCCCCGGCTGCTGGGTCCTCTCCCCCCCTCACTTCCCGGGTCGACGGGCCTTCTCCGAGGCCATGCCTCATATTTGCCCCCGCGCTTCACCTACCGCGTGCTCCTTCAGGAGGCTGAGCCGGTGGGGGCCCAGCTCTGTTAGACCCGCAGGGTTCTGACACCAGGGTCCAGGCTCTCGGTTGCTGCGGTCTGTCCGTTGATCTCTGACGTTTAAGAACCCTTTCCGTACCCACCGCTCCTCCCACCCAAGTGACCGGGCCTGCCTTTCCCCACGCTGGAACTTTGTTCCGACAGCACAGGCGTCGCCCCTCCCCACACAACGAGCGCCGTTTCAGGGGTGCGGAGGTGCTGCCTCCAGGAGATGGATACAGGCTGGAGCGTAAACAAAATATCGGCAGTCGCGTAAATGCTTTGGAGTAAACAAGCAGCCTTTCATGATAGAAAATAGCAGGAAAGACTAGACTGGTGAGGGATAGTCCTCCATCAGGGTGACATTTAAGGGAAGAGCTGAAGAATGAAAGAAGGGGTAGGCATGGGCAAAGGGCAAGCCCTGGAACGGTGAAGAAGCTTTGGGGTTGATGAGTCAAATGTGTTCCAGGAATTGACAAGAATCAGTGTGACCAGGACCTATGGGAGTGTGGGGGTTCAAGAGATGAGTTTGGAGAGGGAGACAGAGGCCAAGTCACACCCCGCCTTCGGACCAGGTTAATAAGGGATATGGCTTTTATCCAAGACTTCGGTGGTGCTGTTGGAGGGCAGAGCTGTTAAGTGCTTTATGTGTACAAACTGCACTTAGAGTGAGTTACTGTTAATAAGCCCTGTTTTTACAGAGATAGCAACTAAGACCCAAAGGACGGAACCAGCTTGCTCCAGGTCCCGTGGCTGAGCCTTTGTTGTCAGCCTCTGCTTTGTCTTCCAAAGTCTGTAGAAATAAGTCCTGTAGAAAGGCAGATGCTCACTTTTAACCCAGACAAAACATAACTAACCGCACCTAACAGGTCATCACAGGTTTGTTGTCTCAAGCCTGTTGTAACTGGGCCGCTTTCTCTGTTTTAGGTTTGGACCTCCTGCGTACAGACGGTTTAGTAGTGGTGGTGCCTATCCCAACATCCCCCTCTCTTCTCCCTTACCTGGAGTACCCAAGCCTGTTTTTGCTACAGTTGATGGACAGGAAAAGTTTGAAACCAAAGTAACCACATTGGATAATGGGCTTCGCGTGGCATCTCAGAATAAGTTTGGACAGTTTTGTACAGTAGGAAGTAAGTACTGTTGTGTTGTCGTGGGTGGTCCCGCAGTTTTAACATGCACATGCTTTAGTTGACTGTTAGTTGTAATTAGCATGCCAATTATGAATTGTACCCTGAGTGGAAACAAAGTGTACGATTTCATAAATGTTGAGCTACACATATACCTGTGAAACCATCAGCACAATCACCCTCATGTAATTAAATCTGATTATCATGTCATATTGACATCTTAAAATGTTTCTCTTGATTAAATCTTATTTTGAATATCTGATGTAACCTGTCAATTTTCTTTTTACTACTAGTTCTTATCAATTTAGGATCGAGATATGAAGCGAAATACCTTAGTGGAATTGCTCACTTTTTGGAAAAATTGGCATTTTCGGTCAGTACCCAGTTTTGTAATTTTTTAGACTATACTTTTGAAGGATGTTTGAGATTTTTCTTGTCTATAATGGTTATTTTAATAAATTATCAAGTTGCTAAGTTAATGTTAATAAAAGACTTTTAAGTTAAAAGATAATTTTTGTATGTGTGTTAAAAGCAAAAGTAGATTTTAAAAAAAAATTGTGTTTCAGGGATAGCCTGGATTGCTTATTTAGGTTTCCTTATTTATTTTTACTAGTCTACTGCTCGATTTGACAGCAAAGATGAAATTCTGCTTACGTTGGAAAAGCATGGGGGTATCTGTGACTGCCAGACATCAAGGTACACCAGCTTTTGTGTACAAACTGACTTTGGGTCCTTGGGAACTGACGTTCTTGTCGTTGCTCAGATTCCCTCTGAGCCCCTCCCAGCGGGAGGTGTGGAGATTCACGGGGAGAAGGAGCCCTGTCCTGGATGGAGACTTGGGTGGATGGCGCTTACACAGAGAAGCACAGCCCCCAGGAGCTCAGTTGACCCCCGTCAGTTCCTCCAGGCTGTTGGCTGCATGCCAGGGATGTAGAGCAGGCCCTGTTCCCAGATAGAGCAGAGGGCCTTGCATACGTAATGGACCCCGTAGCCAAAGGCGGTAGGAGCCAGGAGGATGAGTGGCTGACTTGGTCTGGAGTTGGGAAAGGAATCATAGGAAATGCAGGGTTGGGCTGGTTCCAGAAGGAGTTTGCTAGACACACGGGGCACAAGGCATTCCAGACCAGGAGACAGCAGGGGCAAAAGGCACCGAGCCAGGGAGGTGCCGGCTGCTTGGTGGAGGGAGGGGGCAGTGTTGCCTCGAGCACAGTGCAGTGGTCTTTGCATGCCAGGTGTGGAGCTTGTTCAGAAAGCACTGGGCAATGTGAGATGGGTGAATATAGATCACAGATTTTTAAAATTGTTGATTTAAGTTTGAATGCTAAAAAAATTACACATAAAAGACACATTAAATGCTAAGAATTAAAGTTAGCTTGGAGGTAACATATTCATGTTCTAAAACAAGGCCTCTTAATACCCCCTGACTCCCAGCTGCCCCTGCCAGGTTCCTGCCTGGTGTGTTTGATTCTCCGACTCTTGCCTCGAATCTCACTCATCCCAGATGAACTCCTTTCTCTGGCCAGGTGGCTGGTGTCCTGACTCAGACCCAGCCCCCCTCGCCCTCAGCTCAGGCTTTTGTTCTTGCCATTCTCCCCATGTGGAGAGCCAAAGTCACTGAGAATGGCTCCTCTTCAGGGTGAAGGTCCAGCCAAGTCCCCTCTTCAGAGGCACTGGTGACTGCGTCCTGCCTCCCAAGCTCCCTCTTCTTCGTGGCTGTTGCGTCTGCTCTGCATGGTCTCCCTTGATCACACTTGATCTCAGAGCACCCCATGATTTCGTGCCTGTCCCATGGGCCAGCTCTGTGCACTTCTGACTGTGCAGTGCCTCATGCCGGGAACAGATGTTACAGTGAGACAAGCTCCATACGAGCCAGCCATTGCTGTCCCCCAAGCCAGCCAAGGCCGGGCATGTTTCCACACTCACCAGTGGGTTCGTTCAGTCAACAGGAGGCTGGGATGAAACACTTCACCTTTTGAGAGAGAGTATAGTTACAAAAATCTGTATCAGAAGTGGCTCCATTTTGACTCAAGCTGTGTGTAGCTGTGAGTCCTGCCTACCAAGCATTCACACTGTAAGACAGGAAAAGAGAAAGGGGAAAAGTGTCTGCTGTTCCCCGATGAAGGGTAGGAGGTGTCCCCTGGCACGCAAAGCCCAAGCGTCCCTGAAATGTCTGCTGGGCCCCAACAAAAGGTAGGTGCCCCTGGCATGCAAAGCCCAAGTGTCCCCTGGCTGTTGAGCAGAGTGTGAGCTCAGGGCCTGGCATTGTCCACCTGGCACGCAAAGCCCGAGCGTCCCCTGGCTGTTAAGCAGAGTGTGAGTTCAGGGCCTGGCATTATGGGCTTGTGTTTTCTTC
|
Task1_train_13519
|
Consider a variant on Chromosome 9 in gene LOC126860792, PMPCA (CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:139310410-139311609| peptidase, mitochondrial processing subunit alpha). Determine its clinical classification and disease relevance.
|
Pathogenic; Autosomal recessive spinocerebellar ataxia 2
|
CACTGTAAGACAGGAAAAGAGAAAGGGGAAAAGTGTCTGCTGTTCCCCGATGAAGGGTAGGAGGTGTCCCCTGGCACGCAAAGCCCAAGCGTCCCTGAAATGTCTGCTGGGCCCCAACAAAAGGTAGGTGCCCCTGGCATGCAAAGCCCAAGTGTCCCCTGGCTGTTGAGCAGAGTGTGAGCTCAGGGCCTGGCATTGTCCACCTGGCACGCAAAGCCCGAGCGTCCCCTGGCTGTTAAGCAGAGTGTGAGTTCAGGGCCTGGCATTATGGGCTTGTGTTTTCTTCCAGAGACACCACCATGTATGCTGTGTCTGCTGATAGCAAAGGCTTGGACACGGTGGTTGCCTTACTGGCTGATGTGGTTCTGCAGCCCCGGCTAACAGGTGTGGATCCCAGCCGCTGGCGTTTGAGGTGGGCTTGGACATAGGGAAGACCGGAAAGGTTTGCAGAAGCCCTGTAGCCATGAGGGAGAGCACCATGTAATTGGAGCTTTAGGCCAACACAAAGTGACAGCGAGATCTCATAAGAAATAGCGCTGGGGCTGGGCATGGTGGCTCACACCTGGAATCCCAGGACTTTGGGAGGCTCAGGCAGGCAAATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAAGATACAAGAATTAGCTGGCTGTGGTTGCTTACACTTAGAGTCCTAGCTACTCGGGAGGCTGAGGTAGGAAGATCGTTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCCCTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAGAAAGAAAGGAAAAAGAAATAGTGCTAGTAGCCAGGCGTGCTGGCTCACGCCTGTAATCCCGGCATTTAGGGATGTAGAGATGGGAGGATCACTTCAGCCCAGGAGTTCGAGACCAGTCTGAGCAACATAGCAAGACTCTGTTCTCCACAAAAAGGAAAAAAAACCCACTGGTGATTGTAAAAGTCCTTAGTGTTTGAGAGAATGTGTATTTGAGACATCTGTGCCCTCATCCCTGTGGGATGTTTTTAGCGAAATTGGTTCTTTGATTTCGGAAGGGCACCTCGGACCGTCTTTAAACAAGTGGAATGGTGTGTGCCAGAAATTTCCATTTCACTGTTTCCATTACCCTCCTCAGCCTTGCAGATGGCAGGACTTTGAGTCCCTGTCAGGGGTGGACCAGGAGAGGGGAACGTTGGCTTTTCCAGATACCCTAAGGGTGCAGTTTCACAGCAGCTTGCGCTTGGTGTTCAAAGGCTACAGTCCCACGTTAAGATCTTGTGGTCACAACTGATGAAAGGCGCCCTTGACATCTGTCTGTGCCTCTGTTTCTTTTTGGAGATAGAGTCTGTCTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCGCGCCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCGTGTGCCTCTGTTTCTAAGCACCTTCATGTCTGGTCTCGTGTCCTCACAGCAGCACTTGGGACAGACAGGTCCAGTGTCTTCGGTGCCTTTCACCAGCAAGGAAGCCAGGGCTTAGCAGGCTCACGTGGCTGCTTCATGGCTGAGGCGGGATGTGAGGCCCAGGTCCCCTAGCTCCTGCTCCCTGTAGCAGTCCCCCTCACTCACACAAGCACCCAGTCTGCCCCTAGATGAAGGCAGAGGTGACTGCCAACAGCCACCAACAGGCGACACTCAGGCCAGCACACAAGCTGTGGGTCACTGCTGTGTTCCTCATCTCTGCCTGTGCAGACTCAGCCCTGGCCTTTGGGTTCTCTTGCAGATGAAGAAGTCGAGATGACGCGGATGGCGGTCCAGTTTGAGCTGGAGGACCTGAACCTGCGGCCTGACCCAGAGCCACTTCTCACCGAGATGATTCATGAAGTAAAATGTCAAACTCGAGAATGCCCCCGCATCTCGAACAGTGGTCCTCGGGACACCAGGGGTGGTGGGGAGGGTGCCTCCGTGATGTTGTCCTTGCAGGTTATGGATATATACAGAACATTTTTTTGTTTTTTGAGATGAGGTTTCTCCACATTGCCTACGCTGGTCTTGCACTCCTGGGCTCAGCTCAGGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCT
|
CACTGTAAGACAGGAAAAGAGAAAGGGGAAAAGTGTCTGCTGTTCCCCGATGAAGGGTAGGAGGTGTCCCCTGGCACGCAAAGCCCAAGCGTCCCTGAAATGTCTGCTGGGCCCCAACAAAAGGTAGGTGCCCCTGGCATGCAAAGCCCAAGTGTCCCCTGGCTGTTGAGCAGAGTGTGAGCTCAGGGCCTGGCATTGTCCACCTGGCACGCAAAGCCCGAGCGTCCCCTGGCTGTTAAGCAGAGTGTGAGTTCAGGGCCTGGCATTATGGGCTTGTGTTTTCTTCCAGAGACACCACCATGTATGCTGTGTCTGCTGATAGCAAAGGCTTGGACACGGTGGTTGCCTTACTGGCTGATGTGGTTCTGCAGCCCCGGCTAACAGGTGTGGATCCCAGCCGCTGGCGTTTGAGGTGGGCTTGGACATAGGGAAGACCGGAAAGGTTTGCAGAAGCCCTGTAGCCATGAGGGAGAGCACCATGTAATTGGAGCTTTAGGCCAACACAAAGTGACAGCGAGATCTCATAAGAAATAGCGCTGGGGCTGGGCATGGTGGCTCACACCTGGAATCCCAGGACTTTGGGAGGCTCAGGCAGGCAAATCGCTTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCTGTCTCTACAAAAAAGATACAAGAATTAGCTGGCTGTGGTTGCTTACACTTAGAGTCCTAGCTACTCGGGAGGCTGAGGTAGGAAGATCGTTTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCCCTCCAGCCTGGGCAACAGAGTGAGGCTTTGTCTCAAAAAAAGAAAGAAAGGAAAAAGAAATAGTGCTAGTAGCCAGGCGTGCTGGCTCACGCCTGTAATCCCGGCATTTAGGGATGTAGAGATGGGAGGATCACTTCAGCCCAGGAGTTCGAGACCAGTCTGAGCAACATAGCAAGACTCTGTTCTCCACAAAAAGGAAAAAAAACCCACTGGTGATTGTAAAAGTCCTTAGTGTTTGAGAGAATGTGTATTTGAGACATCTGTGCCCTCATCCCTGTGGGATGTTTTTAGCGAAATTGGTTCTTTGATTTCGGAAGGGCACCTCGGACCGTCTTTAAACAAGTGGAATGGTGTGTGCCAGAAATTTCCATTTCACTGTTTCCATTACCCTCCTCAGCCTTGCAGATGGCAGGACTTTGAGTCCCTGTCAGGGGTGGACCAGGAGAGGGGAACGTTGGCTTTTCCAGATACCCTAAGGGTGCAGTTTCACAGCAGCTTGCGCTTGGTGTTCAAAGGCTACAGTCCCACGTTAAGATCTTGTGGTCACAACTGATGAAAGGCGCCCTTGACATCTGTCTGTGCCTCTGTTTCTTTTTGGAGATAGAGTCTGTCTCTGTCACCCAGGCTGGAATGCAGTGGCGCGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCGCGCCCAGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACAGTGCTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCGTGTGCCTCTGTTTCTAAGCACCTTCATGTCTGGTCTCGTGTCCTCACAGCAGCACTTGGGACAGACAGGTCCAGTGTCTTCGGTGCCTTTCACCAGCAAGGAAGCCAGGGCTTAGCAGGCTCACGTGGCTGCTTCATGGCTGAGGCGGGATGTGAGGCCCAGGTCCCCTAGCTCCTGCTCCCTGTAGCAGTCCCCCTCACTCACACAAGCACCCAGTCTGCCCCTAGATGAAGGCAGAGGTGACTGCCAACAGCCACCAACAGGCGACACTCAGGCCAGCACACAAGCTGTGGGTCACTGCTGTGTTCCTCATCTCTGCCTGTGCAGACTCAGCCCTGGCCTTTGGGTTCTCTTGCAGATGAAGAAGTCGAGATGACGCAGATGGCGGTCCAGTTTGAGCTGGAGGACCTGAACCTGCGGCCTGACCCAGAGCCACTTCTCACCGAGATGATTCATGAAGTAAAATGTCAAACTCGAGAATGCCCCCGCATCTCGAACAGTGGTCCTCGGGACACCAGGGGTGGTGGGGAGGGTGCCTCCGTGATGTTGTCCTTGCAGGTTATGGATATATACAGAACATTTTTTTGTTTTTTGAGATGAGGTTTCTCCACATTGCCTACGCTGGTCTTGCACTCCTGGGCTCAGCTCAGGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCT
|
Task1_train_13520
|
The gene PMPCA (peptidase, mitochondrial processing subunit alpha), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Global brain atrophy
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13521
|
Located on Chromosome 9, this mutation impacts PMPCA (peptidase, mitochondrial processing subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Bilateral ptosis
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13522
|
This variant impacts the gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Hypoventilation
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13523
|
This sequence change occurs on Chromosome 9, altering PMPCA (peptidase, mitochondrial processing subunit alpha). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Blindness
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13524
|
The gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Restrictive external ophthalmoplegia
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13525
|
Given a variant located on Chromosome 9 and affecting PMPCA (peptidase, mitochondrial processing subunit alpha), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Infantile muscular hypotonia
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13526
|
Mutation context: Chromosome 9, Gene PMPCA (peptidase, mitochondrial processing subunit alpha). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Optic atrophy
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13527
|
This mutation is located in gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Hypertrophic cardiomyopathy
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13528
|
A sequence alteration has been identified in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is it disease-inducing or harmless?
|
Pathogenic; Diffuse cerebellar atrophy
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13529
|
Located on Chromosome 9, this mutation impacts PMPCA (peptidase, mitochondrial processing subunit alpha). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Severe global developmental delay
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13530
|
Here is a variant affecting PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Chronic lactic acidosis
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13531
|
Gene PMPCA (peptidase, mitochondrial processing subunit alpha), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Failure to thrive
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13532
|
The gene PMPCA (peptidase, mitochondrial processing subunit alpha), on Chromosome 9, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Normal pressure hydrocephalus
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
GGTGATCCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATTACAGGCGTGAGTCACCGCACTCAGCTTAGAACATTCTTGATTTCTGAGTCTGCTGTTTATACAATGTTCGTATTTTCCAGTTTTTATAGTAACTAGGTCTTTACTACTAAACACAATTAATCTTAGGCTTTTTGTGAATTTGTATTCTGGAGAGGCAGATTTTACTCTTTATAAATACGCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCAGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCC
|
Task1_train_13533
|
This alteration occurs within gene PMPCA (peptidase, mitochondrial processing subunit alpha) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Autosomal recessive spinocerebellar ataxia 2
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13534
|
A mutation found in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Global brain atrophy
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13535
|
A variant was discovered on Chromosome 9, affecting PMPCA (peptidase, mitochondrial processing subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Bilateral ptosis
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13536
|
This variant affects the gene PMPCA (peptidase, mitochondrial processing subunit alpha) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Hypoventilation
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13537
|
This genomic variant is located on Chromosome 9, within the PMPCA (peptidase, mitochondrial processing subunit alpha) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Blindness
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13538
|
Given this context: Chromosome 9, gene PMPCA (peptidase, mitochondrial processing subunit alpha) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Restrictive external ophthalmoplegia
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13539
|
A mutation found in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Infantile muscular hypotonia
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13540
|
A variant was discovered on Chromosome 9, affecting PMPCA (peptidase, mitochondrial processing subunit alpha). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Optic atrophy
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13541
|
This genomic variant is located on Chromosome 9, within the PMPCA (peptidase, mitochondrial processing subunit alpha) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Hypertrophic cardiomyopathy
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13542
|
The gene PMPCA (peptidase, mitochondrial processing subunit alpha) is located on Chromosome 9, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Diffuse cerebellar atrophy
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13543
|
Gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Severe global developmental delay
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13544
|
The following genetic variant occurs in PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Chronic lactic acidosis
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13545
|
This variant affects the gene PMPCA (peptidase, mitochondrial processing subunit alpha) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Failure to thrive
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13546
|
This genomic variant is located on Chromosome 9, within the PMPCA (peptidase, mitochondrial processing subunit alpha) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Normal pressure hydrocephalus
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACGCGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
GCACGCAGCTGCTATTGCCAGAGTGCAAGTAAAATATCAGCTTGCGTCGGATTTTCCCAGGGCTGGCTGCAGATGGGCGCTGGTGCTGCTTGTTGGAGGAAGCCTGGTCATGCTGTCTTCAGTCACCTGTGTCTGTGGCTCTTCCCCATTAGGCGGCTTACAGGGAGAACACAGTTGGCCTCCACCGTTTCTGCCCCACAGAAAACGTAGCAAAGATCAACCGAGAGGTGCTGCATTCCTACCTGAGGAACTACTACACTCCCGACCGCATGGTGCTGGCCGGCGTGGGCGTGGAGCACGAGCATCTGGTGGACTGTGCCCGGAAGTACCTCCTGGGGGTCCAGCCGGCCTGGGGGAGCGCAGAGGCCGTGGATATTGACAGATCTGTGGCCCAGTACACTGGGGGGATTGCCAAGGTGAAGTAGCGGGAACGTCTCATGGCCTCGGGTGGGGAACACGTCCCCTGGCCCGTGGTGTGACCTGTTTTTGTATTGATTCTGAGGGTGATAGGTGTTGACTGCATGTGTAGCTTTGCCTTAACACATGCTGTAGTCCCACAGCAGGGCATGGACTGTGTCCCCTGCTGAGAATGAGTGCTGCTAGGCCTGAGAGCAACACAAAAGGTGGATGCGGTTCTTTCTCTAGGGGAGTGGGTCTGCCACTGCGTGTTGCATTTTTTTTTTTTTTTTTTAGAGATGGAGCCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTTACTGCAACCTCCACCTCCCAGGTTCAAGTGATTCTTCTGCCTCAACTTCCCGAGTAGCTGGGATTACCACCACGCCCGGCTAAATTTTGTATAGAGATGGGGTTTCACTATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCATGATCTACCTGCCTCAGCCTCCCAAAATGCTGGGATTACAGGCGTAAGCCACCACGCCCAGCTTATATGTATATACATATGTTTTTTTTTTTTTGTCTTTTTGGTAGAGGTGGAGTTTTGCCACATTGCCTAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTTTAGGCATGAGCCACTGTGCCTGGCTGGCATTGGATTTCTGTGTAACCACTCTGAAGATGATCTCATCTGGGGTTTGCGAGCCCTCATTGTTTTTCACATGGCGACACTTGCTTGTTTTCTTGGTTACAGCTAGAAAGAGACATGTCCAATGTCAGCCTGGGCCCGACCCCCATCCCCGAGCTCACGCACATCATGGTTGGACTGGAGAGCTGCTCCTTCCTGGTGAGTCCTGGTGCTGGGTCTGATGGCGTTCCTGATGCAGTGTGGCCGGCTCAGCCAGCCCTGCCCTCTGTCCCTGGCATCCGACAGCGCTCCTGATGGGGCGTGGGCGGCTCAGCCAGCTCTGCCCTCTGTCCCTGGCATCCAGCAATGCTCCTGATGCAGTGTGGGCGACTCAGCCAGCTCTGCCCTCTGTCCCTGGCGTCTGACGGCGCTCGTGACACAGCGTGGGTGGCTCAGCTAGCTCTGCCCTTTGTCCCTGGCATCCGACGGCGCTCCTGACGCGGCATGGGTGGCTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCCAGCGGCGCTCCTGACGTGGCTTGGGCGACTCAGCCAGCTCTGCCCTCCGTCCCTGGCGTCTGACGGTGCTCCTGACGTGGCGTGGGTGGTTCAGCCAGCTCTGCCCTCCGTCCCTGCAGGAGGAGGACTTCATCCCCTTTGCAGTGTTGAACATGATGATGGGCGGAGGTGGCTCCTTCTCGGCTGGTGGGCCCGGCAAGGGCATGTTCTCCAGGCTCTACCTCAACGTGCTCAACAGGTGGGTTGCACTCTTTTCTGTATCCTCAGGCCACCAGGCCAGGCCAGGTGTGTTTTTGGACCATGAGGCCACCTTCCAGGTGACTTTTCTCCAGTTTCCCATGGCCTGATCCTGGCGAGTCCCCTTCACTCCCATGACTCTCGCTTCCTCCCAGGCACCACTGGATGTATAACACGACCTCCTACCACCACAGCTACGAGGACACTGGCCTCCTTTGCATCCATGCCAGCGCCGACCCAAGACAGGTGAGGGCCCCGCCTGCCACCGTCCTCAGTGCGGTTGCCTGTCCAGACCTGGGCGTCCCTGCCTAGACGGGTCAGTAGGCCGGCAGGCGCAGGCCACACTGTTATCGTCTTGCCCTTCTTCGCAGGTTCGAGAAATGGTAGAAATCATCACAAAGGAGTTTATTTTAATGGGCGGAACCGTGGACACGGTAAGTGCAGTGTGGCGCCATTTCCAGGCGTACCTGTGGTGTCTGACAGGAGACAGCCACGTTGTAGGAGTGGCCACCTGTGGGCCTGGTCCCTGAGCCTCAGGGCCAAGGTCCCGGCAGGGCAGGGCAGGGCAGGGCGGCCAAGGAGGCACAGCCTGGGGCTGAGCTGCTCCACCTGGGAGCCCGCTGAGGCTGTTCTTCCCTGGTCCAAACCCCGAAAACAGAAAAACAGACCACCGCCCTCCCCCAGTGCTCGGTCCACTACTTCTTTCTCTGAGCCACTGGGTGAGTCGTGGGACTGACCATGTGACTCTCTCAGCTTTGCTGGCGAAACGCTGCAGGAGTTTTTGTGTCCTTCTCAGCCGCCTCTGTGAGGTGACTGGGGTGAAGCAGCTCGCACAGGTGGGCTGCAGCGTGGGGTGTCTCGAGCCTTTCCCTGGCTCCATTCTATGTTTGAAACTGTATTTGTTTACCAATTTTTTTTTGTTCTTTTTAAGATGGAGTCTCACTGTCTCACCCAGGCTGGAGTGCAGTAGCTCAAATTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGGTGGTCTTAAACTCCTGACCTCAAGTGATCCGTTGCCTTGGCCTCCCAAGGTGCTGGGATTACAATTACAGGTGTGAGCCACCATGCGTCCCTGTTTACTAATTTTTTAAGCTTAGTTTTTGATGCTTTACACATTTGGGAACCTCGTTACTTCCTGGACCAGAAGTGGTACAAATAAGCAAGTTTTATACACACACTTTTTTTTTTTTTTAGACAGAGTCTTGCTCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCATCCTTCCACCTCCCGGGTTCAGGTGATTCTCCTACCTTAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGTCACCACCCTAGCTAATTTTTTTGTTTTTTGTTTTCTGTTTTTTTTTTTTTTTTTTGAGACGGAGTCCTGCTCTGTTGCCCAGGCTGGAGTGCGGTGGCATGATCTCAACTCATTGCAACCTCCGCCTCCCGGGTTCAGGTGATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTCATCTGCCCATCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCACGCAGCCCCATGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCAGACCGGTCTTGAACTGCTGACCTCAGGTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACTTTGGGATCCCGGTGTGAGCCACCGTGCCCGGCCAGGAAAAAAAGCATTCAAGAAATAAAGTTGTGGTTAAATTAATACGCTTCAGTTCCACTAGTGCACTGCTAGAAAAACAGTCCTCCACTAACGTGAAGTCAACTTGAAATAAATATGAAGTATTTAGGTATTTGCCTAAAGTTGCAAAAAGACCTAAGAATTGTTTTACTTAAAAGAAATGGTATAGAGGCCAGGTCCGGTGGCTTATGCCTGTTTTCCCAGCACTTTGGGAGACCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCAAGAC
|
Task1_train_13547
|
This mutation is located in gene PMPCA (peptidase, mitochondrial processing subunit alpha) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Autosomal recessive spinocerebellar ataxia 2
|
TCCCCGATTTTGCCGTGTGGCCACTTTGGGGCCCTGGCATTTGGGAGTTAACTATTTTACCTTCTCCCGCTGCATGTCACACAGACAATGAAGAACTCAAGGGAGGCACATTGCTCCTGTATTTCAAGTGTGGTAGAAGCCGGGTAACACGTAGCACAGCCCTTCCCTAAAAAACCTGAAGGGGAGACCAGCAGGGTTGCCTGTGACTTGGGCCTGGGTTCCCGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTGGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCCGCCTCAGCTTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTCTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACTCTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCGGGAGCCACTGCGCCCGGCTGCCCTTCCCTTTCTTATGTTCAGCTTTGGGCACAGAGATGGCGTTTTGCCATTGCTCGAGTGGGGGGTGGAAGGTGGCACGGGGCGGGTGTGTGCTCACCTGACTGGACCCTGGCCCCAGGTGGAGCTGGAACGAGCCAAGACGCAGCTGACATCAATGCTCATGATGAACCTGGAATCCAGGCCTGTGATCTTCGAGGATGTGGGGAGGCAGGTGCTGGCCACTCGCTCCAGAAAGCTGCCGCACGAGCTGTGCACGCTCATCCGTGAGTACCGCAGGGGTAGTGAGGGGCTGCCGCAGGCCTCGGCCAGGCTCAGAGGAGGCCGTCTCGCCCTCCCGCAGGCCGTGGTGGGCCTGTGGTATGTCCATCACACCCAGAATCTGGGGCCTTCACCAGTTGTCCTCAGCAGGGGCGGCCAAGGGCAGGGTCGTGGGGTCGCAGACCTGGTCTCACTTCCCGGCCCCACCATGCACCTGCTGCCTCCTTGGCAGGTGACCCCACCCTCTGCACCCCTGGGAGGGGCTGTCACTACTGCCCAGAGTTGTTAAAGAGCACTCAAGTTAGTAGGCGAGAAGGGCTCAGTAGAGGACTGCTACATTGTACGTGGAGTAGCAGTGGCTCGGAATGCCGCTGTACCGTTGCTGGCTCTCGGGCAGGAGTCTCAGCCCCAGGTTTCCGGGGCCCCCATGAGTGACCTTAGGAGGTCTGAATTTCCTGAAACTGCCAAGTTGTATGTGCATCGGACTCTTCTGGGGGACAGGCTTAAAACCTGGCAAGGCTGCCTATTACGTTGGGGTGGCTCGGGCTTATGGTGTCACCTGTGGGCATCTCCTTTCCAGGCCTGGAGTCCCGGGCACTTGCCCTGTCCCGTGTGGGCCCTCGTCCTTCCCTCAGGAGCCCCCGCTTAAATCCTCAAGCGAGTGTCCAGCCTCTCTCGGGCCTCGTTTTCTGTAGAAAACAGACCCACCTGGACCCTATCACTCCTGTCCTGGGGTTCCTGGGTGCAGCCCTTTGGCCTTCTCTCACCCCACCCTTCTGTCCATGCGGCCCTCGGGGGCTGGGGGTTTTTTCTGCAGGCCGTCCTAAAGTGAGTTCATCAGACACGGAGCTCGCTCTTCTGTAAGTGTAACTCTTCTTGGGTGGCTTTGTCCTATATTTTTAAGTCATTGCCATGTCCCCATTTACTGAGAACTCAACGTCTGTCACTTGTGGACTCACCCTTGGCTACACCCAGTGGCTGCCTTTGGGCCCAGGTGCCCCCATCAGCAGCACAGCGTGAGTGAGTGGTACAGACCAGCCGCCCCCTCCGTGTGTTTACTGATGCAGCCTCAGCGTGGGGGCCGTGGCGCGCTCGTGTGACACGCGTTTGCCCTCTGCACTAGGCAACGTGAAGCCGGAAGATGTGAAGAGAGTCGCTTCTAAGATGCTCCGAGGGAAGCCGGCAGTGGCCGCCCTGGGTGACCTGACTGACCTGCCCACGTATGAGCACATCCAGACCGCCCTGTCGAGTAAGGACGGGCGCCTGCCCAGGACGTACCGGCTCTTCCGGTAGAACCGCTCCCCGGCCTGACAGACCCAGGGAGCTGCAGCTGGAGCCCGTTCCCGTGCGTGTTAGTTTGGACACGAATTTAGTCTAAAAAGCTGTCTGGTTGTATAAACGGTGCAAACAATGTCGCCACAGCACCCACGCGGTTTGCATTCTTTTGGAACTCAATGTGCCGATCAGTGGAGTCAGTATCGAGCCTGACCACCGCAAGCCAGGAAGCAGGTGAAGTGCCCAGCGCTGGAGTGCAGCGTGCCACGAGGAGGGCGGTCGGTGCTTCCCTCCTCGGGCTGTGGGCACATGGGGCCCCGCAGGTTCCTTGGAGGAGCCCTGAGCTGGGAGGCAGCAAAGGCTGACCTATCAAAGCCTCCCGGAGGCCACCGTGCTGGGTACCAGGACTCACCTCTGACAAGCAGGAGAAGGTAAGGGCCCGGTCAGCTCCAAGGAGCGCGCTCCACGCGCGTGCACACAGCTTCCCTGGTAATAAAGAGCTGGCATCTTTCTTAGCACGGTGTTTTCCTTCTCGCCTGGGGAGGGGCGGTTCTTAAGGGCTGTCTGAATTGGCAGCTTTTCTAACATGGAGGCCTTCCTCCCTGTCAGTCGTCCGGTTTGACCCCGTGTCTTGAAGCCTGTTCTCGTGCGACGTGCTGATGTCAGGGGTGTCGCAGCATGCATGGGGTGGGGTGACGGGGGGTAATGGTGACCGGCAGCGAAGCCTGCAGGTGCCTTAGAGGTGGGGAGCACCGCCAAGCCGAGGAACGGCCGCAGATGTGGGTGTTTCCAGAGATCCGAAAGGCCGCATGGCTTAGGGAATAGCGGCTACGGGGTAGCCTTTCATGTGGTGTAAAAACTTGTACAAGAGGCCGGGCGCGGTGGCTCACGCCTCTAATCCCAGCACGCTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCGGACCAACATGGAGAAACCCCGTCTCTATCGAAAATACAAAATGAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCCGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAACAAAAACAAGCAAAAAACGTGTACAAGTTAAAACTTGTAACGTGGTTCTCAAACACCCATAGAAACCTCGGGAGCTCCAAGGGGTGTGGGGAGGTCGGGCCTGGGAACCTGCATGGGCCACCTGCGGTGCTGCCTGTAGTCCAAGGGTAGCTTCCTACATGTGTGACTCCGTGGGCTGCACAGAGCTGTGTGGCACAGTTTTGTCAGGAGGAGAGAACGTCTCTGGTCCTGTCTTTTGAGTAGCTGAGAGGTGCAGCCTCTTTGCAGGACCGATGGGAGAGGGAGTGGATATTTTCAGGAAATTAAACTTGTAAGCTTTACTCCTCTTAGCCTCTTACTGTCCTCTGGCTGTTGTAGTTTCTGTAAGACCTGGTGCCTTTACAACACACACACTCCAGCGACGGTGACTGCTTGAATTTGCCCATGTGGGAAGCGTCAGCTTGCTGCCCACCTGGTGGGATTGGAGGGCCGGAGCCGGAGGACGATGGTGTCTGTTCTAACAGTGGACTTCCTGTTAGAAACATCCTAGTGTTAACCACACCTGGGACAGAAGCTCCCGGCAGCACGCAGCCCCTGATGTTCAGCTGCACAGTGAACGCAGAGCTCCGGCGCCACACGCGTCAGGCCTGGGGTTGAGCTTCTGAAGATTCCGGTGAAGCACAGTCCTGCTCCACCTACCGAGTAGCCCGAGGACATTCTAGAAACTGCTACCAATTAGCCCTCGGTGTCTGTGGTTTGGAAGCCGAGGCCAACAAAGGTTCTCTCCATTCCCTGCCACATAGCTGGCTCTCCCTCGCTGCCTCCTCTCTAACCAAAGGTCGCACACCCGCCCTCCCTGCCACACTCCTCCCCACTTCGCTTTTTTTT
|
TCCCCGATTTTGCCGTGTGGCCACTTTGGGGCCCTGGCATTTGGGAGTTAACTATTTTACCTTCTCCCGCTGCATGTCACACAGACAATGAAGAACTCAAGGGAGGCACATTGCTCCTGTATTTCAAGTGTGGTAGAAGCCGGGTAACACGTAGCACAGCCCTTCCCTAAAAAACCTGAAGGGGAGACCAGCAGGGTTGCCTGTGACTTGGGCCTGGGTTCCCGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTGGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCCGCCTCAGCTTCCTGAGCAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAATTTCTTTTTGTATTTTTAGTAGAGAAGGGGTTTCACTCTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCTGCCTCAGCCTCCCAAAGAGCTGGGATTACAGGCGGGAGCCACTGCGCCCGGCTGCCCTTCCCTTTCTTATGTTCAGCTTTGGGCACAGAGATGGCGTTTTGCCATTGCTCGAGTGGGGGGTGGAAGGTGGCACGGGGCGGGTGTGTGCTCACCTGACTGGACCCTGGCCCCAGGTGGAGCTGGAACGAGCCAAGACGCAGCTGACATCAATGCTCATGATGAACCTGGAATCCAGGCCTGTGATCTTCGAGGATGTGGGGAGGCAGGTGCTGGCCACTCGCTCCAGAAAGCTGCCGCACGAGCTGTGCACGCTCATCCGTGAGTACCGCAGGGGTAGTGAGGGGCTGCCGCAGGCCTCGGCCAGGCTCAGAGGAGGCCGTCTCGCCCTCCCGCAGGCCGTGGTGGGCCTGTGGTATGTCCATCACACCCAGAATCTGGGGCCTTCACCAGTTGTCCTCAGCAGGGGCGGCCAAGGGCAGGGTCGTGGGGTCGCAGACCTGGTCTCACTTCCCGGCCCCACCATGCACCTGCTGCCTCCTTGGCAGGTGACCCCACCCTCTGCACCCCTGGGAGGGGCTGTCACTACTGCCCAGAGTTGTTAAAGAGCACTCAAGTTAGTAGGCGAGAAGGGCTCAGTAGAGGACTGCTACATTGTACGTGGAGTAGCAGTGGCTCGGAATGCCGCTGTACCGTTGCTGGCTCTCGGGCAGGAGTCTCAGCCCCAGGTTTCCGGGGCCCCCATGAGTGACCTTAGGAGGTCTGAATTTCCTGAAACTGCCAAGTTGTATGTGCATCGGACTCTTCTGGGGGACAGGCTTAAAACCTGGCAAGGCTGCCTATTACGTTGGGGTGGCTCGGGCTTATGGTGTCACCTGTGGGCATCTCCTTTCCAGGCCTGGAGTCCCGGGCACTTGCCCTGTCCCGTGTGGGCCCTCGTCCTTCCCTCAGGAGCCCCCGCTTAAATCCTCAAGCGAGTGTCCAGCCTCTCTCGGGCCTCGTTTTCTGTAGAAAACAGACCCACCTGGACCCTATCACTCCTGTCCTGGGGTTCCTGGGTGCAGCCCTTTGGCCTTCTCTCACCCCACCCTTCTGTCCATGCGGCCCTCGGGGGCTGGGGGTTTTTTCTGCAGGCCGTCCTAAAGTGAGTTCATCAGACACGGAGCTCGCTCTTCTGTAAGTGTAACTCTTCTTGGGTGGCTTTGTCCTATATTTTTAAGTCATTGCCATGTCCCCATTTACTGAGAACTCAACGTCTGTCACTTGTGGACTCACCCTTGGCTACACCCAGTGGCTGCCTTTGGGCCCAGGTGCCCCCATCAGCAGCACAGCGTGAGTGAGTGGTACAGACCAGCCGCCCCCTCCGTGTGTTTACTGATGCAGCCTCAGCGTGGGGGCCGTGGCGCGCTCGTGTGACACGCGTTTGCCCTCTGCACTAGGCAACGTGAAGCCGGAAGATGTGAAGAGAGTCGCTTCTAAGATGCTCCGAGGGAAGCCGGCAGTGGCCGCCCTGGGTGACCTGACTGACCTGCCCACGTATGAGCACATCCAGACCGCCCTGTCGAGTAAGGACAGGCGCCTGCCCAGGACGTACCGGCTCTTCCGGTAGAACCGCTCCCCGGCCTGACAGACCCAGGGAGCTGCAGCTGGAGCCCGTTCCCGTGCGTGTTAGTTTGGACACGAATTTAGTCTAAAAAGCTGTCTGGTTGTATAAACGGTGCAAACAATGTCGCCACAGCACCCACGCGGTTTGCATTCTTTTGGAACTCAATGTGCCGATCAGTGGAGTCAGTATCGAGCCTGACCACCGCAAGCCAGGAAGCAGGTGAAGTGCCCAGCGCTGGAGTGCAGCGTGCCACGAGGAGGGCGGTCGGTGCTTCCCTCCTCGGGCTGTGGGCACATGGGGCCCCGCAGGTTCCTTGGAGGAGCCCTGAGCTGGGAGGCAGCAAAGGCTGACCTATCAAAGCCTCCCGGAGGCCACCGTGCTGGGTACCAGGACTCACCTCTGACAAGCAGGAGAAGGTAAGGGCCCGGTCAGCTCCAAGGAGCGCGCTCCACGCGCGTGCACACAGCTTCCCTGGTAATAAAGAGCTGGCATCTTTCTTAGCACGGTGTTTTCCTTCTCGCCTGGGGAGGGGCGGTTCTTAAGGGCTGTCTGAATTGGCAGCTTTTCTAACATGGAGGCCTTCCTCCCTGTCAGTCGTCCGGTTTGACCCCGTGTCTTGAAGCCTGTTCTCGTGCGACGTGCTGATGTCAGGGGTGTCGCAGCATGCATGGGGTGGGGTGACGGGGGGTAATGGTGACCGGCAGCGAAGCCTGCAGGTGCCTTAGAGGTGGGGAGCACCGCCAAGCCGAGGAACGGCCGCAGATGTGGGTGTTTCCAGAGATCCGAAAGGCCGCATGGCTTAGGGAATAGCGGCTACGGGGTAGCCTTTCATGTGGTGTAAAAACTTGTACAAGAGGCCGGGCGCGGTGGCTCACGCCTCTAATCCCAGCACGCTGGGAGGCCGAGGCGGGCGGATCACCTGAGGTCGGGAGTTTGAGACCAGCCGGACCAACATGGAGAAACCCCGTCTCTATCGAAAATACAAAATGAGCTGAGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAGGTTGCCGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAAGAAACAAAAACAAGCAAAAAACGTGTACAAGTTAAAACTTGTAACGTGGTTCTCAAACACCCATAGAAACCTCGGGAGCTCCAAGGGGTGTGGGGAGGTCGGGCCTGGGAACCTGCATGGGCCACCTGCGGTGCTGCCTGTAGTCCAAGGGTAGCTTCCTACATGTGTGACTCCGTGGGCTGCACAGAGCTGTGTGGCACAGTTTTGTCAGGAGGAGAGAACGTCTCTGGTCCTGTCTTTTGAGTAGCTGAGAGGTGCAGCCTCTTTGCAGGACCGATGGGAGAGGGAGTGGATATTTTCAGGAAATTAAACTTGTAAGCTTTACTCCTCTTAGCCTCTTACTGTCCTCTGGCTGTTGTAGTTTCTGTAAGACCTGGTGCCTTTACAACACACACACTCCAGCGACGGTGACTGCTTGAATTTGCCCATGTGGGAAGCGTCAGCTTGCTGCCCACCTGGTGGGATTGGAGGGCCGGAGCCGGAGGACGATGGTGTCTGTTCTAACAGTGGACTTCCTGTTAGAAACATCCTAGTGTTAACCACACCTGGGACAGAAGCTCCCGGCAGCACGCAGCCCCTGATGTTCAGCTGCACAGTGAACGCAGAGCTCCGGCGCCACACGCGTCAGGCCTGGGGTTGAGCTTCTGAAGATTCCGGTGAAGCACAGTCCTGCTCCACCTACCGAGTAGCCCGAGGACATTCTAGAAACTGCTACCAATTAGCCCTCGGTGTCTGTGGTTTGGAAGCCGAGGCCAACAAAGGTTCTCTCCATTCCCTGCCACATAGCTGGCTCTCCCTCGCTGCCTCCTCTCTAACCAAAGGTCGCACACCCGCCCTCCCTGCCACACTCCTCCCCACTTCGCTTTTTTTT
|
Task1_train_13548
|
The variant affects gene INPP5E (inositol polyphosphate-5-phosphatase E), which is on Chromosome 9. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Familial aplasia of the vermis
|
ATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTT
|
ATGCAGGGGTGGTCGCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCCGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTT
|
Task1_train_13549
|
Here is a genetic alteration in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Joubert syndrome 1
|
CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAA
|
CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGTGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAA
|
Task1_train_13550
|
This sequence change occurs on Chromosome 9, altering INPP5E (inositol polyphosphate-5-phosphatase E). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Joubert syndrome and related disorders
|
CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAA
|
CGAACTCCTGACCTTGTGATTTGCCCACCACTCAGATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGAGTGAGCCACCGCACCCAGCCGAATGTAGGATTTTAAAGATAGCAGAGATGAACCGGACAAGATCATAGTCAGCTGTTGAGGGTTGAGACCAAACTTTTTGCCTGTGGATTTTACAGCCTTTCAAACAAGGACATTGTGAGAACGGGATATGCATGTATATTGTTGCTTCCAGGTTTCAGTCTTTGGCCAGAAAGAGATTTTAAGACTCAATATATGCATTTATTTAAAAATATAAATATGGAAAAATAATTTAAAAGACTAGATTGAATGTCCCTAGATTTTCACACATTCAAAGACTACATTTTTTCAAGAGATGGAATGGGACACAAAGCAAGAATGAACGGTTCTATACTCTCGAAGAAAGAAACCCGGGACATGGTGGGGATCCCTGGCCTAGGTGTTCAAGGTGGTGGCATCCTGAACTTCCAGCAGTTCCCTAGCCCGGTTCCACTAATGTCATTCCGCGGCTGGAGTTAAAGAAGCAAACGGTCTACGTCACCAAGACCATGAGACGGTTTCAAAAATGGTCTACGTCACCAAGACCATGAGATGGTTTCACACAATAGGCTTGGCCTATGAGAGGAGGGGAAGCAGCTTCTTACTCAGCTGGGGAGGCCCTTATACTGGGGTGCAGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGTGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAA
|
Task1_train_13551
|
Gene INPP5E (inositol polyphosphate-5-phosphatase E), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Joubert syndrome 1
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGGCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
Task1_train_13552
|
A variant has been detected on Chromosome 9 in INPP5E (inositol polyphosphate-5-phosphatase E). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; MORM syndrome
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGGCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
Task1_train_13553
|
Here is a genetic alteration in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Familial aplasia of the vermis
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGGCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
Task1_train_13554
|
This is a variant in INPP5E (inositol polyphosphate-5-phosphatase E), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; Joubert syndrome and related disorders
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
AGGCCTCCTCGCCCCATGGCAGGCGACTTGCAGCCAAGTGGAGGGGAACCGTGCCACGTCCTGGAGGCTGTGTGGCTTCCTCAGCTGGGCTCTGGGGCCCACTCAGAGGTCTGAGGCCCCAGGGGTCACCTAGCCCAGATCCAGCCTTGCTCTGGATACCCGTGTGACATGGGGTGGTGTGTGTTTGAGGGGCTGCCAGGAGGACACAGATGGACGCCTGCTTCGGGTGTGGAGGGAGAGGCTGGTGCAGAGCACGGGGGTGTTGGGGGGCTCTGTGACTGCCCCCAGGGCACAGGAGCTGCTCAGGAACGGATTCTGACGTCTGCCCCCGAGAGTGGCTGGGGTCCGTGGTGCTGCTGGGCGGGTCCAAACCCTGCCACCCATGCTGTATGGACCTGCCATGGAGACGGGGGTCCAAGCCCTGCCCACCCACACCGTGTGGACCTGCCACAGAGGACAGGCTCGCTCAGGGTTGGCTTCCTTCCTGGGACGCTGGCACAGAGGCACGGTCGCCACAGTCCCTCGGATCCCCGAAAGGCGGCAAACTCTTTGTCCTTCCCAGTGGGTTTTGATCAATACAATCACCCCACGTTGCAGCTGTGAGTCCTCGTTCAGCAAACTTCAAGAAACGGAGCAGATGGTGCTGGAGTTCTGACTCTGTAGTGCTTGCTGCCTCTGAATCTCCTTCGAAATCCGTCTTTTAATTCCTAGTAAGTACAGTTCTCTATCAAATTTGCCAGCTGCCAACGGAATGCTGTGGAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCCAGGAGGAGGGGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGGCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCG
|
Task1_train_13555
|
Given a variant located on Chromosome 9 and affecting INPP5E (inositol polyphosphate-5-phosphatase E), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Familial aplasia of the vermis
|
GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCC
|
GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTACACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCC
|
Task1_train_13556
|
A variant found in Chromosome 9 affects INPP5E (inositol polyphosphate-5-phosphatase E). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; not specified
|
GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCC
|
GGGCGTTAGGAGGGGGCCGGCCCCGGAGGAGGGGGCATTTAAGAGGACACCCAGGGCCAGGATGAGGGGCTGTTAGGTGGGCACTGGCCCAGATTGGCCCTGCCTCTAAGCACACGGAGGCCTGTTCCTGGGACAGAGCCGCAGGAAGGACAGGGCGGATGCCTGAGTGCTTAAGGCCTTCGTCCCTCCAGCTGGCCACACCCAGCCCCCCAGCTGGGCCTCTCTTCACTTTCCAGAGCCTCTCCCCTTCCTGCCTTCTCCTGCTCCAGGATGAGTCCAACCGATCCCGGGGAACACAGCCCTGAAGGTCCCAGAACAAAGCCCCAAGTGGAACCCCACGATGACAGGGACCCTCTTAGCTCATGGGACGACGGCACGACCCCCAGGCCCAAGGGGGAAGGTGAGCGGGAGAACACTGACTTGTCTCGCCCCGGCCTCACTTTCACCCGGAAGAGGCCATACACAGGGCGGTGGTCGGACGTCTTGATCCCGGGGCAGGAAGAGTAGCTCACAGGACAGATGTCACCCTTGTGGCGGCTTCTGTACAAGACGCGGTCCTTTGGGAAGATTGCAGAGGCAGGAGGTCCAGTTACTTGTGAGGAGCCGTGGGGCGTGGCCCGCTCACCTCCCTGCTGTTCTCAAGCGCCCCCCACAAGGAAGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTACACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCC
|
Task1_train_13557
|
A variant found in Chromosome 9 affects INPP5E (inositol polyphosphate-5-phosphatase E). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Joubert syndrome 1
|
AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCA
|
AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCACTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCA
|
Task1_train_13558
|
This sequence variant lies in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Familial aplasia of the vermis
|
AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCA
|
AGCCTTCTGGGACCCCTGACACTCATGCCCATTTTGTTGCCTGGCGTCTGTGGCCAGCTGGGCCAGGGCCTGTCCCTCGCCGCTGGAGAGACCCTGTGGACAGCGGCTGCTCCTACCCTGCCCTGCCTCAGTGGCTTCTTGAGGCTTCCAGCAGATATCCAGATATCGGGACATGCCCAGAGATGCAGCCATGGGCCTGGCAGGAGGGTGAGCGAGGGTGCAACGGGCAGAGGGCAGAGGCTCTGCAGGCCGGAGGCGAGGGCATGGCTGGTGCCCTGTGTGCCAGCCGGCTCACCCAGCCTTGAAAACACCCATGGAGAGGGCGCCGTTCTCCACCAAAGGGGACTTGCCACAAGGCCAAGGTGCAGAGCTGAGTTTCAAGTCCAGGCCGTCCAGGCTCAGACCCCTGACGCCAGGCATCGGTTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCACTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCA
|
Task1_train_13559
|
A genetic alteration is present in INPP5E (inositol polyphosphate-5-phosphatase E) on Chromosome 9. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Familial aplasia of the vermis
|
TTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACA
|
TTCCCGGCTGTGGGAGATGCCTGCCCTGGAAGCACTCTGCACCGCAGCGGTGGGCAGGCCTCACCGTGTATGAGGGCGTCCTCTGCTTGGAGGTGCTGTCGTACGTGTCCTTCCCGATGTCAAACTTGTATGATGGGAGGAAGTGGATGTCCGGCTCCTGGAAGCCCTTGAAGATGGACCCTGCCACAGGATGGGCACTCGGACTGGCTCAGACCAGCTTGTGCCAGCCGCCGCACCCCAGGCCCTCACCTCTCCTCATCTCCCACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGGAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACA
|
Task1_train_13560
|
Chromosome 9 houses a mutation in gene INPP5E (inositol polyphosphate-5-phosphatase E). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Familial aplasia of the vermis
|
ACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAA
|
ACCACGCCCACCCTCCCCCCACCCGCCGCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCGCCACGCCCGCCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCACCTCTCCTCATCTCCCTCCATGCCCGCCCCCCCAGGCCCTCACCTTTCCGCATCTCCCGGATGAGCTGGTCGTGCTGCAGCAGCGCCGGCACGTCCACCACCAGGCCCTGGCACAGGAGGGCGTCCACGACTGTGCGCCCGCCACTCAGGCGGAAGTTGAAGTCTCCAAACCAGAACACCTCATCGAAGCGGGTGGTGACGTCCGCTGCGGCACAGTGGGCCATGTGTGGGCACAGGCAGAGGGACGGCAGGTCCTTCCCCTTCCCCAGAACATGGCCTGGGAGTGGCTCTCAGGGGAAGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCATCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAA
|
Task1_train_13561
|
This alteration occurs within gene INPP5E (inositol polyphosphate-5-phosphatase E) located on Chromosome 9. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Familial aplasia of the vermis
|
AGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTA
|
AGTGGGTCTTGGGCGCCAGCCGGTGGGGCCGGGCCCTCAGGGGTGGGATTCGCACTGGGACAGTTCCAGAAGGCACCTGGAGCAGCCTCAGGAGCAGACGATGCCCATGGCAGGCGATGGCCACGTCCCTGCTCCTCTCCACACAGCCAGGGGAGGCGGCGGGGCGGGCAGTGGCGAGGACCAGGACCCAGGCTAGTGGGCCACGCCGAGTGGACAGGATCCGCCCACCCCACTAACCGTGCTAAAGAACCGCGAGGGGCCATGCGCTGGGGGCACTGGACGTTTCGGCCCTCGCTTCCCAAAGCTCAGGACGCTGCCTCTTCAGAACTGCCCTAAAAACGACGGGCGCCCGTGTGCGAACCACGGCGGCACCACCCACACGCAGCGTGGACGCCCTCACCTGCGCTGGAGCGATAGGGGTTGGTGTCGGGCACATTTCTGGGCAGGACCAGGGCTTGTACAGTCCTGGTGTAGTCCAGCAGCCGCTCCGCCACCTTCCCGTCACCTGCTGTGGGAACAGAAATGGGGTAGGGACCACAGGGTTCCGGATGCTCGAGTCTCCCTAAAGCGCCGCACCTCTGGACTGTGCCCTGACTGCGCACCCCCGGCAGACGCAACCCCACCGGGCATCCGCTGCCGGGCCCAGCCAGTGACATTTCCGCCTCGGAGGACAGAGCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCAGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTA
|
Task1_train_13562
|
Mutation context: Chromosome 9, Gene INPP5E (inositol polyphosphate-5-phosphatase E). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Familial aplasia of the vermis
|
GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTACCTCACCCCTAAAACTGTCGACAATCCCGGTCGGGACAGCTGTGTTCACACAGTGGTCATTCGGGACAGAGAGCGTTCCTGTGGGCACCCCTGTCAAGTGATCCCGGGCCCAGCAGGGGCTCCTCGGTCACCAGGCTGGAGGCCCACGGCCCCTTTGCCGGCAGCGCCCATCATGTCCACACCAGCAGCCACGTGGTCAGTCTGCCCAGCTCTGTCCAGAGCATGGTTAGTAACAGCAGGCCAGGGGCGGCCCTCACAGCCATTCCTGTGTCTAGACACGGGCAGGGGCAGAGCTGCCTCGGACCCCCATCCAGGGCCAGGACACTGCACAGCTTCTGCATGAGGACGCTCAGGCTGGCTGCCACAGCCTGGGCCAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGG
|
GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCCGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTACCTCACCCCTAAAACTGTCGACAATCCCGGTCGGGACAGCTGTGTTCACACAGTGGTCATTCGGGACAGAGAGCGTTCCTGTGGGCACCCCTGTCAAGTGATCCCGGGCCCAGCAGGGGCTCCTCGGTCACCAGGCTGGAGGCCCACGGCCCCTTTGCCGGCAGCGCCCATCATGTCCACACCAGCAGCCACGTGGTCAGTCTGCCCAGCTCTGTCCAGAGCATGGTTAGTAACAGCAGGCCAGGGGCGGCCCTCACAGCCATTCCTGTGTCTAGACACGGGCAGGGGCAGAGCTGCCTCGGACCCCCATCCAGGGCCAGGACACTGCACAGCTTCTGCATGAGGACGCTCAGGCTGGCTGCCACAGCCTGGGCCAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGG
|
Task1_train_13563
|
Consider a variant on Chromosome 9 in gene INPP5E (inositol polyphosphate-5-phosphatase E). Determine its clinical classification and disease relevance.
|
Pathogenic; Joubert syndrome 1
|
GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTACCTCACCCCTAAAACTGTCGACAATCCCGGTCGGGACAGCTGTGTTCACACAGTGGTCATTCGGGACAGAGAGCGTTCCTGTGGGCACCCCTGTCAAGTGATCCCGGGCCCAGCAGGGGCTCCTCGGTCACCAGGCTGGAGGCCCACGGCCCCTTTGCCGGCAGCGCCCATCATGTCCACACCAGCAGCCACGTGGTCAGTCTGCCCAGCTCTGTCCAGAGCATGGTTAGTAACAGCAGGCCAGGGGCGGCCCTCACAGCCATTCCTGTGTCTAGACACGGGCAGGGGCAGAGCTGCCTCGGACCCCCATCCAGGGCCAGGACACTGCACAGCTTCTGCATGAGGACGCTCAGGCTGGCTGCCACAGCCTGGGCCAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGG
|
GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCCGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTACCTCACCCCTAAAACTGTCGACAATCCCGGTCGGGACAGCTGTGTTCACACAGTGGTCATTCGGGACAGAGAGCGTTCCTGTGGGCACCCCTGTCAAGTGATCCCGGGCCCAGCAGGGGCTCCTCGGTCACCAGGCTGGAGGCCCACGGCCCCTTTGCCGGCAGCGCCCATCATGTCCACACCAGCAGCCACGTGGTCAGTCTGCCCAGCTCTGTCCAGAGCATGGTTAGTAACAGCAGGCCAGGGGCGGCCCTCACAGCCATTCCTGTGTCTAGACACGGGCAGGGGCAGAGCTGCCTCGGACCCCCATCCAGGGCCAGGACACTGCACAGCTTCTGCATGAGGACGCTCAGGCTGGCTGCCACAGCCTGGGCCAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGG
|
Task1_train_13564
|
This is a variant in INPP5E (inositol polyphosphate-5-phosphatase E), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; MORM syndrome
|
GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCGGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTACCTCACCCCTAAAACTGTCGACAATCCCGGTCGGGACAGCTGTGTTCACACAGTGGTCATTCGGGACAGAGAGCGTTCCTGTGGGCACCCCTGTCAAGTGATCCCGGGCCCAGCAGGGGCTCCTCGGTCACCAGGCTGGAGGCCCACGGCCCCTTTGCCGGCAGCGCCCATCATGTCCACACCAGCAGCCACGTGGTCAGTCTGCCCAGCTCTGTCCAGAGCATGGTTAGTAACAGCAGGCCAGGGGCGGCCCTCACAGCCATTCCTGTGTCTAGACACGGGCAGGGGCAGAGCTGCCTCGGACCCCCATCCAGGGCCAGGACACTGCACAGCTTCTGCATGAGGACGCTCAGGCTGGCTGCCACAGCCTGGGCCAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGG
|
GCACGGGCCCAGCACGGCACGCCCTCGGTGCCGGGGTCTGCCGGGGGTCCTTGGCGTGCATCTTAGCAAGCGTGGTGCCCACCCCACGGCCCTGGGTGGAAGATGAAGCCAGCGGTCAGGACCCCTGCCTTGGACAGGGTCCCGGTCAGGAGAGGAAGCTGTTCTCACACAGCACCTGCGGTGCGGGCACCAAGCAACTTACAGGTGAAGTGGGACGTGATGAAGAGGAAGGAAGTGCCAAAAAAGGTGAAGCTGATGCCCAAGGCCCCCTTGGTCTTGATCTGAGACACGATGCGTGTGGTCACCGTGGAGCACTCCACCTCTGTGGGAGGGGCAGCCCTCAGCTCACCTGTGGGACGCTGCCACCTTCCAGCCGCGCCCACCCCTCCAGCCGCGCCCACCTGAGCAGAACCAGATGAGGTCCCTGCGGATGAAGAGCGACATGTAGAGCACGCCGTGGGCCGCCGAGGACAGCAGCACATAGTGCGGGCCCAGCGTCTCCTGCAGACGAGTCTCCCACTCCCGCCTGCAGAGGAGGAAGCACGGCCGGCTGGGGGACATGGCCTCCCAGCTCCGCCACCCCCAGACCTGCTGCCCAGAGCCCCTCGAGGAGCTACCAGGGAAACCCCACGACCTGGCCTTGGTGTCTTGCGCGGAGAAGCAATTGCCAGAAGGCCTGGTGGGCCAGAGTTGGGACCTGCCGGGGGCCACAGGCCCCAGTTCCACTTGAGTGGCTCCCCTGGACCCCCGCCGAGACCCCAGTGAGCAGAGCTCCTCCCGCCTGAGGGACTCATGGGCCAGGGAGGTGGGGCCCACCTCAACTCCTTCCCCCAGAGCACCTGTGTGGGCGGCAGCCACCTGCTGTTCCCGCCATGACATGGGGGCCCGGGAGGCCTTGGGGCCCGGCCCTGCTCCGGCTGCCCTTCTACTCTCGCACGCCAACAGTTTGTTACCAAAATCAAATCTCATTGATTTTAAACTCTCCGAGTTGCCACTGGAAAAAAATCTGACCCATGCCTCCCACCCAGGCGTGGAGGCTGCCCGTGCCCGGCCGCCACCCGGGTCTCAGCGCCCAGCAGCTTCAGAGACGGCAGCCCCCGGGCAGGCACTGCAGATCTGTGCCCGGCCACGAACCGGGTATCAGCGCCCAGCAGCTTCACAGATGGCAGCCCCCGGGCAGGCACTGCAGACCCGTGCCCAGCCATGACCACAGGTCTCAGCACCCAGCTGCTTCAGAGACGGCAGCCCCTGGGCAGGCACTGCAGGGCCTGCAGCCGCCCTACCTGTCAGAACAGCCCTCCTGGACCCCGATGACATACAGGTCCTGGGCATAGTCGGCCTCGGCTGGGAGCAGGAACTCGTCCAGGCTGGGCGGGAGCTCCTGGAAGGAGGGAGCATGTGGTGGGCCGGCTCCTCCCGAAACCTGCAGGCGCCTGTGGGTGAATCCCACTGCGGTGCCTTGAGTACCAGCGACTCCTCCGAATGAGGGGAAACTGAGGCCAGGGCCAAAAAGGGAGCTGCCCGGTCTCCGAGGCAGCCTCTGACACACCAAACACGCCTCACGTTGGCCCTCGGCCTGTTTCCCTCTCCAAGCACGAGTCTGTCCAACGACCACCCCTGTATGACCCTCCCGTCACCATGACCCCAGCCCGTGCTGCCCACCCTGTCCCTGAGCCACCCCTACGCGTGCCCCGCTGGCCGCCCTCCCGCTCACCTTGAGCAGGTGATTCTCGGCCAGGCCCGTTGCCCCAACCCCCTCCCCTACTTTCTGCAGCCACGTGGCCAGGGAGGTGCAGGTGGGAGCTCTGGGGGATGGGGGTCCTTACCCACTCTCACCCTCCTGTACTGCGGTTAGCAGTGGGGTGCACCTCGGGGCTCTGCCCTCCTGGCCCCAGGATGAGGCACAGAGCTGCCCCGTCCCCCTCACCCGCCTTTGTCCAGCACCACCCCACCCTTCCCCGCCCAGCACCACCCACAGCCACTCACCTTCTGGCCCTGCATGTTCCAGGTGGCCACGAAGAGTGCCACGTTCCGGTCTGGGAAGTAGCCGGCCAGCTCATCCGCCCCCAACAGGGCCCCGCTGGCCAGGAGGCTGCCCTCCAGGTAACTCCTGTGACGGGAGGACCCCAAGCTCAGGGCCAGGCACAGGACACATCCCTGGGGGTCTGGGCCAGGTCCCCAGGGACAATAGCAAAACCCATGGAATGTCAGGAGCTGCCCCCAGCCCCAAGCAAGGACTCTCCTGGCCCCCGCGGCACTGCTGTCTGCTCTCCAGGAACACAAGGCCTGACCTGGTTGCACAAACACCCAGAGCGGGTTCACACCCCCTCCCTACCTCCCGGGAAGAGGCATGAGAGGGTGACGGTTTGGGCTTTTTGGTGGTGGGATCCTGGAAAAGCCACAGAGAGGAGCTCCCAAACTATAAGCCAAGGCAGTGGGCACAGGGTGCTGTTCGGGGAGGGGCTGGTCCTCCTCCTTTCTCCTTTGGCCCCAGCACCAGGCAGGACGGTCTAAGATACAGAGACCACACGAGCCACACGGAAACGCGTCCATCTCCTCGACACCCCGTGGCTTTGACGCACTTTTGGGTTTGCTTGTTTTGGTTTCTAGTGGGGACAGGGTCTCACTCCGTGCCCAGGCTGGAGTGCAGTGGCACTAACACAGCTCCCTGCAGCCTCTACCTCCCGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTCCAGGTGCAGTGCCACCACGCCCGGCTAGTTATTTATTTATTTTTTATTTTTGTAGAAACAGGGTCTCGCCACGTTGTCCAGGCTGATGCTTTCAGATTTTAATACGGCGGTGCACACAGATGGTTAAACACCGTGTGGCACAGCAACGTCCCTGCCCCTCCCCACACTCAGCACCTTCTGCCACGAGGGCTGGTAACCCGTCAAGAGGCAACCGCACACGCCTGCCGCTCCGTGGGACATCCAGTGTCTGTCGCCGTGGGCTCTGCTACGGTGGTGCAAGAGCCACCAGGGGATGTGGACACAAGGGGTGCAGCCGTGTGCCCGAGACGCTTGATTTACAGACACTGAAATCTGAATTTTACAATTTTCTTGTACTATGAAACATCATTAGAATGGTTTTGACTTTTTCCAACCATTTGGAAATGTAAAACCCGTTCTCAGCTCGCCGACTATACAGAAACGCCGTGGGCTAGGCTTGCCAGCCGTCCTCCCCGCTCCCTCTCTAAGTAACACTTGTGCGGCTCCTTCTGGATACGCCGTCTTCTGACATGGTTCCCTTCCGCAAGGGGACACGAGAGCATAGTGCCGGATTCCTGTGACCTCCCGCGAGAACTTCTTCAACCCTGGCTGCGGCTCACCAAGCTTCACTGGACACGTTAAATCATGTCAGCAGGGAGGAACCTCGCTACCTCACCCCTAAAACTGTCGACAATCCCGGTCGGGACAGCTGTGTTCACACAGTGGTCATTCGGGACAGAGAGCGTTCCTGTGGGCACCCCTGTCAAGTGATCCCGGGCCCAGCAGGGGCTCCTCGGTCACCAGGCTGGAGGCCCACGGCCCCTTTGCCGGCAGCGCCCATCATGTCCACACCAGCAGCCACGTGGTCAGTCTGCCCAGCTCTGTCCAGAGCATGGTTAGTAACAGCAGGCCAGGGGCGGCCCTCACAGCCATTCCTGTGTCTAGACACGGGCAGGGGCAGAGCTGCCTCGGACCCCCATCCAGGGCCAGGACACTGCACAGCTTCTGCATGAGGACGCTCAGGCTGGCTGCCACAGCCTGGGCCAGCTCTCCGAGCAAAAGGAACGGGTGGGGAAAGGCCCCCTAACCCGCCCTGGCAGCCCCAAGGCACTGGCAAAAGCCAGCAGCCATTCTCAAACAGGGCGGACCCAGCCCGTGCACACGCGGCCCGCAAACTCAGAATGGGTTTTACTGTGTGGAACGGCAGAGAAAGAAAAAAGAGCGAGGTTCCAATGTATGTCCCTAATAGACTCACTGGCACACAGACGCCCTTTGGTCCCCACTGTCTGTGTCTCCCCCTTGACAGAAAGAGTGCGCCGACTCCTATTCTAGAACAGACCGGAGG
|
Task1_train_13565
|
Here is a variant affecting NOTCH1 (notch receptor 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Early T cell progenitor acute lymphoblastic leukemia
|
TTCTTTAAAAAAAGCCGTAATGATTTTGAAATAATACCCAACAAAGAAAATTCAGGAGGAAAGGGTGGGGAGAGAAGCAGGCACCCACTTTCCCGTGGCTGGACTCGTTCCCAGGTGGCTCCACCGGCAGCTGTGACCGCCGCAGGTGGGGGCGGAGTGCCATTCAGAAAATTCCAGAAAAGCCCTACCCCAACTCGGACGGCAACGCTCACACCCGTGGGTAGCAACTGGCACAAACAGCCAGCGTGTCTGGGGCACGGGGGGATGGCACCCCCTGCAGGCAGAGCCTGTTCCCGGGATGGGGCCACACTTACTCTGCACGGCCTCGATCTTGTAGGGGATGTTGAGGCTGCCCAGCGAGGCGAGCGCTCCCAGGAATGCGGCCACGTCGGTGGCACTCTGGAAGCACTGCGAGGAGGCCTGCACACACTGCCGGTTGTCAATCTCCAGGTAGACGATGGAGCTGGGCGGACAATCAGAGAGGGGCTGGGACCCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGCACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCA
|
TTCTTTAAAAAAAGCCGTAATGATTTTGAAATAATACCCAACAAAGAAAATTCAGGAGGAAAGGGTGGGGAGAGAAGCAGGCACCCACTTTCCCGTGGCTGGACTCGTTCCCAGGTGGCTCCACCGGCAGCTGTGACCGCCGCAGGTGGGGGCGGAGTGCCATTCAGAAAATTCCAGAAAAGCCCTACCCCAACTCGGACGGCAACGCTCACACCCGTGGGTAGCAACTGGCACAAACAGCCAGCGTGTCTGGGGCACGGGGGGATGGCACCCCCTGCAGGCAGAGCCTGTTCCCGGGATGGGGCCACACTTACTCTGCACGGCCTCGATCTTGTAGGGGATGTTGAGGCTGCCCAGCGAGGCGAGCGCTCCCAGGAATGCGGCCACGTCGGTGGCACTCTGGAAGCACTGCGAGGAGGCCTGCACACACTGCCGGTTGTCAATCTCCAGGTAGACGATGGAGCTGGGCGGACAATCAGAGAGGGGCTGGGACCCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGCAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGCACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCA
|
Task1_train_13566
|
Gene NOTCH1 (notch receptor 1) on Chromosome 9 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection
|
CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGCACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACG
|
CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGTACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACG
|
Task1_train_13567
|
A variant on Chromosome 9 in gene NOTCH1 (notch receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Adams-Oliver syndrome 5
|
CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGCACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACG
|
CCGAGGCTTCCTCCTCCCCCGCCCACCGGCCAGGGATGCTGCCGCAGGACACTGAGGCCCATGACGCCACAGTCAGGACATGGTGAGGCAGCCTGGGGTGGTGGGAAGCCAGGTCTGACAGCAGCTACCCTGCAGGGGACTGGTGCCAGCCCCCCGACTCCGGCCAGTGCTGATCACGGCTCATCCCAGATACCCACCAACGCGCTCTCCCTGGCCCGCCCTGACACCCTCTCTGGCTCCTGCTGGTGCCACAGACACGTTTCCTCATCTCAGGACAGAGTATGTGCCAGGAGCCCAGTCCTCCCCCAGGAGCCATCCCCAGGCCCTGCAGGAAGCACAGGCGTGAGGTGGGGGTGGGTGCAGCGGTGGTGGGCTGTGTGGTGAGGCTGGCTGGGGGTGAGCTCTGCTCCCCAGGACTGGGTTCCCGTGAGCAGGATCCCATCCAGCCTGTGAGATGATGCTTCTGACCTCCAGGATTGCTCCAAGCCAGCAGAACTGACAGGCAAACCCACCAGGGTCAGGCACACGAAGGGCACAACCAACCTGGCTCCTGGGTCCAGCTGCCCCAGATCGAGTAGGCATGGGCGGGAGCCTTGTGGGGTGCCCCCTGCACTCAAGCTGCTCCTGCCTGTGTTCTCCCACCGTGGGACCCCCCACCCCCACCAGCTCCTCCTCCAACTGCAAGGCCCAGCAATGCCCCCTCCCAGGACCTCCACCTGCCTCCTCTCCAGCCCAAGCCAGGCAGACGCCATGACCAAGCGGCATTCTTGTCTGGGGTGGGGCTGTTCAGCCCTGTGGGAACCCCTGGAGAGCTGAGTGTTTTGTTTTTTACTTCTTTTAATACTTTTTTAAAAAAAACAGAGACAAGGTCTCCCTATGTTGCCCAGACTGGTCTCGAACTCCTGGGCTCAAGGGCTCCGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCTCCTCGCCTGGCAGAGGGCTGAGTTTTAATCAGTGTAGTATCCAGTGCCTAAGGCACAGCTCAATCTCAAAATCACCTACTGGGCACAGGAGTGCCGCCTGTCCAGGGGAAGGCAGTGGCCCAGGAAAAGGGTGTGGCTGTGGGGTCAGGGCCCTGAGCTGGAATGCTGCCTCTACTCCTTGCCTGCGCAGGCCCTGAAGTCCCAGGTCCTCTCGGAACCTCCGTCTCTTTTACCATAAAGTGGGGAGAGTACTGCTTGCCATGGCGCCGGCCGTGAGGGGCAGGGAGGCCGTCGGGGAGGGCCCAGGAGAGTTGCGGGGATTGACCGTGGGCGCCGGGTCTCACTCACCCGCGGACGTCCATGGGGTCCAGCTCCCTCCGCCGCCGCCCACCCTCGCTGCCACCAGGGAGCAGCGAGGCCTTCACCTGGCCCAGCAGGGCGTCAGGTGCGGCCCAGCCCTCGGCGGCACGCTTGATGGGGTGCTTGCGCAGCTCCTCCTCGCGGCCGTAGTAGGGGAAGATCATCTGCTGGCCGTGTGCGTCACGCTTGAAGACCACGTTGGTGTGCAGCACGCGGCTGAGCTCCCGCAGGAAGTGGAAGGAGCTGTTGCGCAGCTGCTCCGGCGGCATCAGCACCACCACCACCAGCGTGCCGGCCGCCAGCCTCTCGGGTACATGCTCCGCACAGTCCAGCCCGTCCCACTCGCACTCCGCGCTGTTGCAGCCCTGGTCGCAGTGCCCGTCGCTGAAGTGGTCCTTGCAGTACTGGTCGTACAGGGGGCTGTGGGGGGCGGGACACGCTCAGGCCGCCTTCCTCGGGGGGCCTCGCACCCGCCGTCCGGTGCCTCCAGCCCACTGGCCAGCCGCGGGGGACGTCCCTGCACCCCCTGAGCAGAGCCTTAGAACTGCATGCTGGCCTCCGGGCCCAAGCCAGGCCACATCCAAGTTCAGGTCCTCCCTCAGCCCCATGAGCCCCGCAGCCTTACTTGCACTGGCCTTCCGCACGCTGGCAGTCAAAGCCGTCGAAGAGGCAGCCGGCTGAGTTGCACTGGCTGTCACAGTGGCCGTCACTGAAGTACTTCCAGTACTGCAGAGACTGCGTGCAGTTCTTCCAGGGGTCATTGAAGTTGAGGGAGCAGTCACCGCCGTCCCAGCCGCACGCGTGGTTGTTGCACTGCAGGCTGCAGACCTTGTTGCCCGCGTCCTCCTGGCACTCGGGCAGCTCGCACGCCTCCTCGATCAGCGGCGGGGGGATGTCGCGCCCGGCCCCACCCCCGAAGCTGTAGTCCAGGATGTGGCACAAGAGCCCGTTGAATTTGGCGGGGCACAGGCAACGGTAGAAGGGGCTCTCGGATGTGGGCTCACAGGTCCCCTGGTTGTAGCAGGGGTTGCCGCCCAGGCAGGGGCTGCTGGCCGGGAACTGGCATTCGGGGCCCGTGAAGGGGCCCAGGCACAGGCAGGTGGGGCTGCGCGGGCCGGAGATGCATGTGCCGCCGTTGAGGCAGCGCAGGCTGCCGCAGGTACGAGCGTCATTCTCACACGTGGCGCCCTCGAAGCCCTGCCCGAGAGGGAAGACAGGACGGTGTCGGGGTGGGCCACCCCCCGCCCCCCCGCCACCTCACACCCAGCCCTCGGCCAGCAGTGCCACCGCTCTCCTCTAACCTGGGAGGCGGCCTGCAACCTTGCCCCCAGCAGCAAAACCCTTTACACACATTCTACCAACAGAGAAAGATCGGGGGTGCCAGGGGGTCGGGAGATGGAGGAAGGGGTAAACTGGTGGAGTGCTGAGGACTTTAGGGCAGGGACTCTCTGCCGTGATCCTGCGAGGGTGGGCAGGCATGTCATACCTCAGCCCAAACCCACAACCACAAAGCCAAGGGCAAGCCCCAGGTACAGGAAGGGCTGCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACG
|
Task1_train_13568
|
Here’s a variant in NOTCH1 (notch receptor 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Adams-Oliver syndrome 5
|
GCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACGAGGGGCCCTTCGGCTCAGCCGGCGCCAGGATGCAGTGCTCCCACACCCCACTGTGAGGGCTGACAGGGCCACATGAGCTGCCCTCAGGTCCAGCGAAGCCACGGGCCCCTCGCTCCTGTCAGACCTGGAGAGAGACCCAGCCCAACAGACCCTGGCGGGGCCTCGGTGACCGGAGTCACTGCCTGTTGGGGGTGGGTGGACCCCGTCCCATAGGATAGAGGTGAGGGCCTCAGGGTAGGTGTTGGCCAAGCCCAGACACAATCTAGGGGAAGGGAAAACCCCATCCCACTTCTCAGTATAGGTACCCTCCTTCAGGCTTTCCACAGGCCACCTCTTCCAGGCAGTCTACCCTGATTACCCCAGCCCTCCCCTAATGAGACTGAACAGTGCATGGGCCTATCAGGTTCAGTTTTCTCCACTGGGCCAGCTCCCAGCCAGGGCCTGGTGTGTGGCAACACTCGTGCCGGCCACAACCCTTACCCTAGGAGGGACCCCCACCTTGCAGGAGTAGCCGCCCAGGTAGTCCGTGCAGGTGGCCCCGTTCTGGCAGGGGCTGGGTGAGCACTCGTCCACCAGGTCCTCACAGTAGCTGCCTGTGTAGCCCGCCTGGCAGCGGCAGTGGTGCGTGTTGCCCGCGTCCACACAGAGCCCTCCATGCTGGCACAGGCGGGCAACGTCAACACCTGCGGGGGATGGGGTGGTAGACAGGTGAGGCCCAGGCCCACAGAGGACCTTGATGGGCTGGGACCCGAGCTGGGTGGGCACAGCAGGTTACCTTGTCGCTGCGCAGCCACCTCACAGGACACGCTGGGCACGTCGCAGTAAAGGCCGGTCCAGCCGCTGGGGCACTCGCAGCGGTACTGGGTGTGGGTCTGCCAGCATTTGCCGCCGTTCTTGCAGGGCGAGGAGTCACACCAGTGCACAAGGTTCTGGGGACAGATTGGGGTCAGCTGGGTGCCCGCGCCCCGGCCATTTCCCCGGTAGCTCAGAACGCACATCTGCCAAGGGGCCTACTCCAACCCAGGCTGCAACCCATTCTACAGAAGTGGAAACTGCCGCCCCTGGACTCCCCACCACCCCCACACCAGGAACAGCCTGGGCTGGGTCTCCCTCAGGGCCCTCAGCAGGTCCAGACCACCCTCGGCCTTTGCTAGAAGGAACACTTTTCCTCAATTCCCCAATTCCTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGTGAGTCGCACTCATTGACATCGTGCTGGCAGTAGCTGCCCGTGAAGCCGGGTGGACACAGGCAGGTGAACGAGTTGATGCCGTCCACGCAGGTGCCACCGTTGAAGCAGGAGCTGCAAGGGGGTGGGCAGGCGGGGGCTGAGTGGAGGGCATTGGTGGGTCCCCGCTCCAGCAGATTCTGCCTCGCCAGCACCTCCCCTTCTGCTCAACCCTAGGGGCCTGATGGCCAGGACAGGCCCAGGGCAGCCTGGCTGACCCAGGGAGGCCAGTGGGAACCCGGGGCCCGGCTCTCACACCACGTCACACCTCCCTCCCCTGCTTTCTTTATAAGTCAGGTCGAGAGTGGTTTTACCAAACGCGTGGGCATAGGGTGGTTAAAGTAAATGAGGGAGAAACCAGAAACCGTCCTGGTAACACGGGAGGTAATTACGTCAGAAACCAGGGACGAGACTGACGTTTACCAAATGAGCTTCCTGGCAAACACGGCAAAAAGGAAACAAGAACGGACAGAGTTCTCGTTGTCTAATAGAAGGAAGCGCACCAGTTCTTCAGGACAGACTACCGGCGCTCCTGGTGCGGGACACAGGAGGAGGTCACAATGGCCCTCTCAGGAGGGACAGGTCGGTACAATGAACAATGTCTGGACTCAATGCAGCCAGCGCTAAGTGCCCAGCCGGCCTAGGCGGACGCCTGCATGGTGTGCCAGGCTGCCAGCTACTGCGTGTGGCCCGCACCGCCCGTTCCCTTCCACGGCCTCACTCGAGCCCCGCACACCTCTCTGTGCAGTCAGGCGTGTTGTTCTCACAGTGGATCCCGCTGAAGCCTGCGGGGCAGGTGCACGTGTAGCTGTCCACGCAGTCCGTGCAGTTGGCCCCGTTGCGGCAGGGGTCACTGGCACACTCGTTGATGTCCTCCTCACAGAAAGTGCCCCGGAAGCCGGGCAGGCAGTCGCAGAAGGCCGTGTTGATGCCGTCTGTGCAGGAGCCCCCGTTGTGACACGGGTCTGGGAGAGGACGGAAGGGTGAGTGTGAGGGGCAGGCACAAACCCACACCTGCGGGAGGGGGCCGGGAAGGCTGCATGGCTGGGGACAGCCCAGCCTTTCGTTGCCGAGGCTGCGGCAAGCAGCCCTGTGACAAAGGTGTCTGGTGGGGAGCCCCAGCACCCACAGGCTGCGTCACACCCGTCTCCTGTGCTTGGGGTCTCTCTCCCCACCTGCTCCTGTCCTCAAGCTCCAGGGCAGGGGGCAGCTTTGCAGGCTTCACAGACCGAGCAGGGGAGGAGAGACAGTTCTTGCCTCTGCCTGCCAGGTGATGCCAGCAAGACCCCCGGCTTCTGCCAACCTCAACCTCTGTGAAGCAGGGCTG
|
GCTGTTGGTAACAATGTATCACTGAAATCCAGAGTGAAATTGATGCAAGCTGCTAACCAGGGGAACTGCGTGCAGGGGACAGCCACCCCAGGGAGTCTACTTCCTGCTCCATTTTTCTATAAATCTAAAATGTCTCTAAAATCATTTATTGAAACTAAAAAAAAAAAAAAGACATCAGGGTGAGGAGGAGGATGAAGGCCGGGAGGATCACTGCCCGGTCTGCGCCCCGAGGCCCCCACGTGGACCTCTCCAGGTGTCTCCCCTGGCGGGCCCCTGCCTCCCTGCACCCCTGCACCTACCGCAGGGCACTTGCAGATGAACCCGCGGGCGGTGTTGGAGGCCACGGCGCAGGTGCCCCCATTCTTGCAGGGCTTGCCTTTGCAGCCATTGATGACGGACTCGCAGCGGCGCCCTAGGGGTAAGAGCAGGGCAGTGAGAGGCTCACCCTGCTGCCCCACACGCCCCACCCGCCTGGGCGCGGCACCCACCGGTGTGACCAGCACGGCACTCGCAGTGGAAGTCATTGACGCGCTGCACGCAGTTCTGGGTGCCACGGGCGTCGCAGGGATTGGACAGGCACTCGTTGACATCCCCCTCACAGCGCTCACCCACGAAGCCCGGCGGGCAGGTGCAGCTGTAGCCGCCCACCTGGTCCACGCAGGTGCCGTTGTTAAAGCACTTGGGGCTCCGGGACACGGGGTCAACGGGGGGATTGCAGTCGTCCACGTTGATCTCACAGTGCACACCTGCGGGGCCAGGTTTCGTCAGTGGCCCAAGCCCGCCACACCCCGGCCCTGCCGTGCCGCGTGTCCGTCCCGGAAGACGAGCGCTCAGGTCTGGGGCTGCACGGACACTCGGGAGAGGCAGGTGTCAAGGGTGCCGTGGAGACGCCCTTCCCACTGGGACCCCCGCTCTGGGCCCTTTCCCTGGGCAGCTGTGAGTCGGCCTTGGCCTCACACAGGAAAATGGGAGTTTCTGGCTGGTTCCTGGATGCCTCTGGCCGGTCCCGGGGTGCCTGCCCTGCCCCTGCCCTGGCCATGGATGGCCAACACCAGCCCTCCGTGCAGCGGCCCTTACCCTGAGTGCCCCGTGGGCAGGAGCACTTGTAGGTGTTGGGGAGGTCGAGGCAGGTGCCCCCGTTCTGGCAGGGGTGGGAGAGGCACTCGTCGATCTCCTCAGAGCAGTTCACCCCGTGGTAGCCGGCCACGCACTGTGCAGGCGACAGAACGAGGGGCCCTTCGGCTCAGCCGGCGCCAGGATGCAGTGCTCCCACACCCCACTGTGAGGGCTGACAGGGCCACATGAGCTGCCCTCAGGTCCAGCGAAGCCACGGGCCCCTCGCTCCTGTCAGACCTGGAGAGAGACCCAGCCCAACAGACCCTGGCGGGGCCTCGGTGACCGGAGTCACTGCCTGTTGGGGGTGGGTGGACCCCGTCCCATAGGATAGAGGTGAGGGCCTCAGGGTAGGTGTTGGCCAAGCCCAGACACAATCTAGGGGAAGGGAAAACCCCATCCCACTTCTCAGTATAGGTACCCTCCTTCAGGCTTTCCACAGGCCACCTCTTCCAGGCAGTCTACCCTGATTACCCCAGCCCTCCCCTAATGAGACTGAACAGTGCATGGGCCTATCAGGTTCAGTTTTCTCCACTGGGCCAGCTCCCAGCCAGGGCCTGGTGTGTGGCAACACTCGTGCCGGCCACAACCCTTACCCTAGGAGGGACCCCCACCTTGCAGGAGTAGCCGCCCAGGTAGTCCGTGCAGGTGGCCCCGTTCTGGCAGGGGCTGGGTGAGCACTCGTCCACCAGGTCCTCACAGTAGCTGCCTGTGTAGCCCGCCTGGCAGCGGCAGTGGTGCGTGTTGCCCGCGTCCACACAGAGCCCTCCATGCTGGCACAGGCGGGCAACGTCAACACCTGCGGGGGATGGGGTGGTAGACAGGTGAGGCCCAGGCCCACAGAGGACCTTGATGGGCTGGGACCCGAGCTGGGTGGGCACAGCAGGTTACCTTGTCGCTGCGCAGCCACCTCACAGGACACGCTGGGCACGTCGTAGTAAAGGCCGGTCCAGCCGCTGGGGCACTCGCAGCGGTACTGGGTGTGGGTCTGCCAGCATTTGCCGCCGTTCTTGCAGGGCGAGGAGTCACACCAGTGCACAAGGTTCTGGGGACAGATTGGGGTCAGCTGGGTGCCCGCGCCCCGGCCATTTCCCCGGTAGCTCAGAACGCACATCTGCCAAGGGGCCTACTCCAACCCAGGCTGCAACCCATTCTACAGAAGTGGAAACTGCCGCCCCTGGACTCCCCACCACCCCCACACCAGGAACAGCCTGGGCTGGGTCTCCCTCAGGGCCCTCAGCAGGTCCAGACCACCCTCGGCCTTTGCTAGAAGGAACACTTTTCCTCAATTCCCCAATTCCTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGTGAGTCGCACTCATTGACATCGTGCTGGCAGTAGCTGCCCGTGAAGCCGGGTGGACACAGGCAGGTGAACGAGTTGATGCCGTCCACGCAGGTGCCACCGTTGAAGCAGGAGCTGCAAGGGGGTGGGCAGGCGGGGGCTGAGTGGAGGGCATTGGTGGGTCCCCGCTCCAGCAGATTCTGCCTCGCCAGCACCTCCCCTTCTGCTCAACCCTAGGGGCCTGATGGCCAGGACAGGCCCAGGGCAGCCTGGCTGACCCAGGGAGGCCAGTGGGAACCCGGGGCCCGGCTCTCACACCACGTCACACCTCCCTCCCCTGCTTTCTTTATAAGTCAGGTCGAGAGTGGTTTTACCAAACGCGTGGGCATAGGGTGGTTAAAGTAAATGAGGGAGAAACCAGAAACCGTCCTGGTAACACGGGAGGTAATTACGTCAGAAACCAGGGACGAGACTGACGTTTACCAAATGAGCTTCCTGGCAAACACGGCAAAAAGGAAACAAGAACGGACAGAGTTCTCGTTGTCTAATAGAAGGAAGCGCACCAGTTCTTCAGGACAGACTACCGGCGCTCCTGGTGCGGGACACAGGAGGAGGTCACAATGGCCCTCTCAGGAGGGACAGGTCGGTACAATGAACAATGTCTGGACTCAATGCAGCCAGCGCTAAGTGCCCAGCCGGCCTAGGCGGACGCCTGCATGGTGTGCCAGGCTGCCAGCTACTGCGTGTGGCCCGCACCGCCCGTTCCCTTCCACGGCCTCACTCGAGCCCCGCACACCTCTCTGTGCAGTCAGGCGTGTTGTTCTCACAGTGGATCCCGCTGAAGCCTGCGGGGCAGGTGCACGTGTAGCTGTCCACGCAGTCCGTGCAGTTGGCCCCGTTGCGGCAGGGGTCACTGGCACACTCGTTGATGTCCTCCTCACAGAAAGTGCCCCGGAAGCCGGGCAGGCAGTCGCAGAAGGCCGTGTTGATGCCGTCTGTGCAGGAGCCCCCGTTGTGACACGGGTCTGGGAGAGGACGGAAGGGTGAGTGTGAGGGGCAGGCACAAACCCACACCTGCGGGAGGGGGCCGGGAAGGCTGCATGGCTGGGGACAGCCCAGCCTTTCGTTGCCGAGGCTGCGGCAAGCAGCCCTGTGACAAAGGTGTCTGGTGGGGAGCCCCAGCACCCACAGGCTGCGTCACACCCGTCTCCTGTGCTTGGGGTCTCTCTCCCCACCTGCTCCTGTCCTCAAGCTCCAGGGCAGGGGGCAGCTTTGCAGGCTTCACAGACCGAGCAGGGGAGGAGAGACAGTTCTTGCCTCTGCCTGCCAGGTGATGCCAGCAAGACCCCCGGCTTCTGCCAACCTCAACCTCTGTGAAGCAGGGCTG
|
Task1_train_13569
|
This sequence change occurs on Chromosome 9, altering NOTCH1 (notch receptor 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Adams-Oliver syndrome 5
|
CTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGTGAGTCGCACTCATTGACATCGTGCTGGCAGTAGCTGCCCGTGAAGCCGGGTGGACACAGGCAGGTGAACGAGTTGATGCCGTCCACGCAGGTGCCACCGTTGAAGCAGGAGCTGCAAGGGGGTGGGCAGGCGGGGGCTGAGTGGAGGGCATTGGTGGGTCCCCGCTCCAGCAGATTCTGCCTCGCCAGCACCTCCCCTTCTGCTCAACCCTAGGGGCCTGATGGCCAGGACAGGCCCAGGGCAGCCTGGCTGACCCAGGGAGGCCAGTGGGAACCCGGGGCCCGGCTCTCACACCACGTCACACCTCCCTCCCCTGCTTTCTTTATAAGTCAGGTCGAGAGTGGTTTTACCAAACGCGTGGGCATAGGGTGGTTAAAGTAAATGAGGGAGAAACCAGAAACCGTCCTGGTAACACGGGAGGTAATTACGTCAGAAACCAGGGACGAGACTGACGTTTACCAAATGAGCTTCCTGGCAAACACGGCAAAAAGGAAACAAGAACGGACAGAGTTCTCGTTGTCTAATAGAAGGAAGCGCACCAGTTCTTCAGGACAGACTACCGGCGCTCCTGGTGCGGGACACAGGAGGAGGTCACAATGGCCCTCTCAGGAGGGACAGGTCGGTACAATGAACAATGTCTGGACTCAATGCAGCCAGCGCTAAGTGCCCAGCCGGCCTAGGCGGACGCCTGCATGGTGTGCCAGGCTGCCAGCTACTGCGTGTGGCCCGCACCGCCCGTTCCCTTCCACGGCCTCACTCGAGCCCCGCACACCTCTCTGTGCAGTCAGGCGTGTTGTTCTCACAGTGGATCCCGCTGAAGCCTGCGGGGCAGGTGCACGTGTAGCTGTCCACGCAGTCCGTGCAGTTGGCCCCGTTGCGGCAGGGGTCACTGGCACACTCGTTGATGTCCTCCTCACAGAAAGTGCCCCGGAAGCCGGGCAGGCAGTCGCAGAAGGCCGTGTTGATGCCGTCTGTGCAGGAGCCCCCGTTGTGACACGGGTCTGGGAGAGGACGGAAGGGTGAGTGTGAGGGGCAGGCACAAACCCACACCTGCGGGAGGGGGCCGGGAAGGCTGCATGGCTGGGGACAGCCCAGCCTTTCGTTGCCGAGGCTGCGGCAAGCAGCCCTGTGACAAAGGTGTCTGGTGGGGAGCCCCAGCACCCACAGGCTGCGTCACACCCGTCTCCTGTGCTTGGGGTCTCTCTCCCCACCTGCTCCTGTCCTCAAGCTCCAGGGCAGGGGGCAGCTTTGCAGGCTTCACAGACCGAGCAGGGGAGGAGAGACAGTTCTTGCCTCTGCCTGCCAGGTGATGCCAGCAAGACCCCCGGCTTCTGCCAACCTCAACCTCTGTGAAGCAGGGCTGGGAGGCCTGAGAGCCCTGGCCTGCAGCGGGGCCCGATGAGCCAGGCGGGAGTGCAGGCCGGGCCCGAGCCATCCTCGGCTCAGTGAAGAGCCGTGGGAGGGGCTCTCGTGACTCTTCCGCGAAGTGCAGGGAGGAGCAAGCCGGCTCTGGGGCCCTCCTGAACCACCCTGGCCATCCCTCAGCACATCCCCCACACCTGACCCAACCCTCCCCGGCCACACTCCGGCCTCCCTGGGTGCTTATGGCCAGCACCATGCGCACCAACCCTGCCCGGGGGAACTGAGGCCTGAGAGCTTCCTGGAGGAGGCCAGAGCCGCGGGGCTACTCACTGGGCCGGCAGTCGTCGATGTCGGTCTCGCAGTTGCGCCCACTGTAGCCGGCCTGGCAGTGGCAGCGGTAGCCGCCGTGGGTGTTCTGGCAGGATGCGCCGTGCCGGCACGGGCTCAGAACGCACTCGTTGATGTCGACCTCACAGGTCTGCCCTGCGGGGCAGGAGGAGGCCGGTTGGTCACCAGCGGCCCCTGGCCCTCCAGGCCCTTCCCAGGCTGGCCCACCCACCTACAGTGCCTCTCCCGACCCAGGAGTAGGCTTCCGTGACCCCAGGACCATCCCCTCTCCCCTAATTTTGGCCTAAGAAGGTCACAGGAACTGGAGTTGGGAACGGTGCTCCCAGGTCAATTCCTGATTCCAGAACTTCTCCGACCAGGGCCTCCTCAGCACCCACCAGCTCCTCTTCAAAGACTCATCTAGCCTGCCTGGGAGCTGCCTGTGTCCCGCAGACATCCTGACCTCCCATCCCAGCCCTCACCGGGCCCTGGCCAGCCTCACCTTGCCAGCCCGTGGGGCAGACACAGGAGAAGCTCTCATAGTCCTCGGATTGCCTGCACTCCCCGCCGTTTCTGCAGGGGCTGGGGGCACACGGGGCCAGCACCACCTCACACGTGGCACCTGCGGGAAGGAGACACACGTGACCCCGGGAGCCTCACCCAGAGGGATCTCCCAAATCGGCCACCGCCTGCTGGTCTTTCCGCCATCAGAGTGCCGTCTGCTGGTCCCGCCGGGAGGCAAATGTGCACCGAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCAT
|
CTGAGCTCCTGCCCCGGCTCCAGAAACCTGGGATTGAAACGAAGGTGCCTGCTGCTTCCGCATCAGGTTCCTTCACCGGCTGCTCAGATCCCCAGAAACCCTCTGCCCGGGGGTGTGGGGGTGACCCCGAGCCGACACAGTGGGACCTGGGGTGACCGTTCCCACCTCCCGCAGGTAGGCACCCACCCAGGGCCCCTCCTTCGGGCACCTCTGTGGCCGGCGCACTCACCTGGCAGTTGGGGCCAGTGTAGCCCTGGGGGCAGGTGCACCTGTAGGAGCCGCAGCCGTCCTGACAGGTGCCGCCATGCAGGCAGGGCTGTGAGTCGCACTCATTGACATCGTGCTGGCAGTAGCTGCCCGTGAAGCCGGGTGGACACAGGCAGGTGAACGAGTTGATGCCGTCCACGCAGGTGCCACCGTTGAAGCAGGAGCTGCAAGGGGGTGGGCAGGCGGGGGCTGAGTGGAGGGCATTGGTGGGTCCCCGCTCCAGCAGATTCTGCCTCGCCAGCACCTCCCCTTCTGCTCAACCCTAGGGGCCTGATGGCCAGGACAGGCCCAGGGCAGCCTGGCTGACCCAGGGAGGCCAGTGGGAACCCGGGGCCCGGCTCTCACACCACGTCACACCTCCCTCCCCTGCTTTCTTTATAAGTCAGGTCGAGAGTGGTTTTACCAAACGCGTGGGCATAGGGTGGTTAAAGTAAATGAGGGAGAAACCAGAAACCGTCCTGGTAACACGGGAGGTAATTACGTCAGAAACCAGGGACGAGACTGACGTTTACCAAATGAGCTTCCTGGCAAACACGGCAAAAAGGAAACAAGAACGGACAGAGTTCTCGTTGTCTAATAGAAGGAAGCGCACCAGTTCTTCAGGACAGACTACCGGCGCTCCTGGTGCGGGACACAGGAGGAGGTCACAATGGCCCTCTCAGGAGGGACAGGTCGGTACAATGAACAATGTCTGGACTCAATGCAGCCAGCGCTAAGTGCCCAGCCGGCCTAGGCGGACGCCTGCATGGTGTGCCAGGCTGCCAGCTACTGCGTGTGGCCCGCACCGCCCGTTCCCTTCCACGGCCTCACTCGAGCCCCGCACACCTCTCTGTGCAGTCAGGCGTGTTGTTCTCACAGTGGATCCCGCTGAAGCCTGCGGGGCAGGTGCACGTGTAGCTGTCCACGCAGTCCGTGCAGTTGGCCCCGTTGCGGCAGGGGTCACTGGCACACTCGTTGATGTCCTCCTCACAGAAAGTGCCCCGGAAGCCGGGCAGGCAGTCGCAGAAGGCCGTGTTGATGCCGTCTGTGCAGGAGCCCCCGTTGTGACACGGGTCTGGGAGAGGACGGAAGGGTGAGTGTGAGGGGCAGGCACAAACCCACACCTGCGGGAGGGGGCCGGGAAGGCTGCATGGCTGGGGACAGCCCAGCCTTTCGTTGCCGAGGCTGCGGCAAGCAGCCCTGTGACAAAGGTGTCTGGTGGGGAGCCCCAGCACCCACAGGCTGCGTCACACCCGTCTCCTGTGCTTGGGGTCTCTCTCCCCACCTGCTCCTGTCCTCAAGCTCCAGGGCAGGGGGCAGCTTTGCAGGCTTCACAGACCGAGCAGGGGAGGAGAGACAGTTCTTGCCTCTGCCTGCCAGGTGATGCCAGCAAGACCCCCGGCTTCTGCCAACCTCAACCTCTGTGAAGCAGGGCTGGGAGGCCTGAGAGCCCTGGCCTGCAGCGGGGCCCGATGAGCCAGGCGGGAGTGCAGGCCGGGCCCGAGCCATCCTCGGCTCAGTGAAGAGCCGTGGGAGGGGCTCTCGTGACTCTTCCGCGAAGTGCAGGGAGGAGCAAGCCGGCTCTGGGGCCCTCCTGAACCACCCTGGCCATCCCTCAGCACATCCCCCACACCTGACCCAACCCTCCCCGGCCACACTCCGGCCTCCCTGGGTGCTTATGGCCAGCACCATGCGCACCAACCCTGCCCGGGGGAACTGAGGCCTGAGAGCTTCCTGGAGGAGGCCAGAGCCGCGGGGCTACTCACTGGGCCGGCAGTCGTCGATGTCGGTCTCGCAGTTGCACCCACTGTAGCCGGCCTGGCAGTGGCAGCGGTAGCCGCCGTGGGTGTTCTGGCAGGATGCGCCGTGCCGGCACGGGCTCAGAACGCACTCGTTGATGTCGACCTCACAGGTCTGCCCTGCGGGGCAGGAGGAGGCCGGTTGGTCACCAGCGGCCCCTGGCCCTCCAGGCCCTTCCCAGGCTGGCCCACCCACCTACAGTGCCTCTCCCGACCCAGGAGTAGGCTTCCGTGACCCCAGGACCATCCCCTCTCCCCTAATTTTGGCCTAAGAAGGTCACAGGAACTGGAGTTGGGAACGGTGCTCCCAGGTCAATTCCTGATTCCAGAACTTCTCCGACCAGGGCCTCCTCAGCACCCACCAGCTCCTCTTCAAAGACTCATCTAGCCTGCCTGGGAGCTGCCTGTGTCCCGCAGACATCCTGACCTCCCATCCCAGCCCTCACCGGGCCCTGGCCAGCCTCACCTTGCCAGCCCGTGGGGCAGACACAGGAGAAGCTCTCATAGTCCTCGGATTGCCTGCACTCCCCGCCGTTTCTGCAGGGGCTGGGGGCACACGGGGCCAGCACCACCTCACACGTGGCACCTGCGGGAAGGAGACACACGTGACCCCGGGAGCCTCACCCAGAGGGATCTCCCAAATCGGCCACCGCCTGCTGGTCTTTCCGCCATCAGAGTGCCGTCTGCTGGTCCCGCCGGGAGGCAAATGTGCACCGAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCAT
|
Task1_train_13570
|
This sequence change occurs on Chromosome 9, altering NOTCH1 (notch receptor 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Myeloproliferative neoplasm, unclassifiable
|
GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCATGAAAATTTTCTCCCAGGCATCCTGTATCTTTGCTAATCTGCCAACCCCACCCCCGGGAGAAGGCCCACATACTGCAGGGGCCTAAGGCACTCAGTGAGGCGCAGAACCTTCTGGAAGGCCCCGCCCCAAGAAAGCCACCACTTTACCCTCCAGTCACGGCTTCCCAGGCCGCCCCCACCCCTGGCCCCACCCTCTCCAGCACAGGCTCCGCCCTCTCCAGCACAGGTCCCGCCCCTCCCACATAGGCCCCGCCCCCTCCAGCACAGGCCCCACCCACCCCTCACCTGTGTAGGGCAGCAGGCAGTTGCACTTGTACCCGGCAACGTCGTCAATACACGTGCCCTGGTTCAGACATGGGTTGGACGCACACTCGTTGATGTTGGTCTGGCAGTTGGGACCTGGAGGGAAGGGGACAGCACTCGGCATGTCCAGCACTCCCAGGCACCTTGGCAGGGCCCCACAACAGCAGCCCTGGGCCTGCTCCCCACCCCAGGCCCCTCCTCATCTCCAAGAGCCAGAGGCCTGGAGCTAAGGCTTTGCCACGGGAGGGAGACACCATGCATGGTGCTGGCTGGACCTGGGTCCCGATCCTGTGTCTCCAGCTCCCCAGACTCGAGGGCGGCCCTCTGCACTGAGAAACGCGCAGCCCACTCACCGCTGAAGCCCTCCCGGCAGGTGCACACGTAGCCACTGGTCATGTCTTTGCAGGTGCCGCCGTTGACACAAGGGTTGGATTCACACTCATTGTTGTTGATGTCACAGTTGGTCCCACTCCACCCAGGGTCACAGTCGCACTTGTACCTGCAAGGGGGACCACACTGCAGGTCGAGGGAGGCCCGAGCAGCACGGCCGGGGCCTGGGCACTCCCGGGTCTGCAATGCCCTATGGGCTGGCGGAGGTGCCCATCCACTCAGACTCGCAGAGTCCTTTAGTGGGGGCAGGCTGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGTGGCTGAGTCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGCCAACATGGCGAAACTCCCCCACCCCATATATACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCTGAGGGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGACAACAGAGCAAGGCTCTGTCTCAAAATAAAGAAAAAAGTGGGGGCCGCAGCGCTTCCCATACCCAAGACTGCGGCAGGGGTTTGGTTCATTAGCGAGGGGACCATGCCAAGTGCAGGGCAGTAGGGTGCTGCGAAAAGCCCCCCACCACTTGCCCGCTGTGTGGCCCCGAACAAAGCACGTGCCTTCTCTGCGCCAAATGAGGGCAATGGGGTCCCTGCTGATTTAAATGGTCCCATCCAGGCAGAGTGCTGCCAGGCACATCATGGGCATCAGAAACACTTGCGGCTGTTACCATGGAAACGTGTTCCAGGGTCACTGTGGGCCTGTGTCCTGAGCACACCATGCAGCCCACAAGGACACGCAGCACACAGCTGCTGGGTGTGGACTGTAGTCTGACTGAGGACCCAGAGGCATGTGCGTCCCCGAGGGGAGCTCCCTGCCACCCAGCCCCGTCCGAGGCCCGTTTCTGGCCCATCTCAAGCTCTGTGCAGGTGCCACCCTCCTGGCAGCAGAGCTCCCAGGGTTTAGGACTGATGTGTCCCCATGATCGGCCCCGCCGCATACCCGTTGAGGCTGTCCCGGCAGGCCCCGTGGACGCAGGGGTTGCTGTTGCACTCATTGACCTCAGACAGGCAGGTGGGGTCGTGGTAGCCCTCGGGGCAGCGGCAGGTGAAGCCATTGATGCCGTCCTCGCAGGTGCCCCCGTTGTGGCAGGGGTTGCCCGCACACTCATCGATGTTGATGTTACACATGCTCCCTAAGGGCAGGGCGGGTCAGACTCCGAGGCCCAGCGCCCAGGGGGTCCCACCCACGTCAACCTCGATTTCCCTGTCTGTTGAGCCGGGGCGATCACCCTTCTGGCCACATCCTTCCAGGTGTCAGAAACCATCTTGGATCACAATGTGCCATGTGCCAGCCTCCCCGGGCACCAGTGCCCACTCAAGTCATCCTCCCAGGGGCCCCAGGGGCAGGGGCTACTGCAGCCCTGACTGATGAGAATCTGAGGCCCAGAGAGGCAGAGGGACCTGCTCAAAGGTGCTGGTGAGCCACAGAGGCAGAAGGTACTTAAGCCTGGCCTCAGGGCTGGCTGCTCCCTCTTGGCCTGCTGGGCCACTCTGCCAACACGGCCTGGGACAGCTCTGACCGGAGACAAGAGGGGTCGGGGGGACCCATCGTGCTGCCAGTTATAGCCCTGGTCCCGCTGCAATCTCTGCTGCAGACCACGGTCTGCCCAGGTGGGCAGCACCAAAGCCCTCACCCAACCCCTCAGCAGCCCCAGGGCAGAGTGGCTGACCTTGACCTCTGAGCACAGTGCAGTCAGCCCCCACGTGCAGGGCCGCTCACCTGTGTAGCCCGGCTCACAGGCACACTCGTAGCCATCGATCTTGTCCAGACAGGTGCCCGAGTCGCAGGGGCTGCTGGCACAGTCATCCAGGTTGATCTCGCAGTTGGGTCCTGAAGGGGTGGCACGTGTCGGTCAGTCCTCAGGCCCGCCCTGCCCACTGGCCCCCCGCCGGCCACCCGCCTGGCCGGCCACCTGTGGTCCCCTTC
|
GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCATGAAAATTTTCTCCCAGGCATCCTGTATCTTTGCTAATCTGCCAACCCCACCCCCGGGAGAAGGCCCACATACTGCAGGGGCCTAAGGCACTCAGTGAGGCGCAGAACCTTCTGGAAGGCCCCGCCCCAAGAAAGCCACCACTTTACCCTCCAGTCACGGCTTCCCAGGCCGCCCCCACCCCTGGCCCCACCCTCTCCAGCACAGGCTCCGCCCTCTCCAGCACAGGTCCCGCCCCTCCCACATAGGCCCCGCCCCCTCCAGCACAGGCCCCACCCACCCCTCACCTGTGTAGGGCAGCAGGCAGTTGCACTTGTACCCGGCAACGTCGTCAATACACGTGCCCTGGTTCAGACATGGGTTGGACGCACACTCGTTGATGTTGGTCTGGCAGTTGGGACCTGGAGGGAAGGGGACAGCACTCGGCATGTCCAGCACTCCCAGGCACCTTGGCAGGGCCCCACAACAGCAGCCCTGGGCCTGCTCCCCACCCCAGGCCCCTCCTCATCTCCAAGAGCCAGAGGCCTGGAGCTAAGGCTTTGCCACGGGAGGGAGACACCATGCATGGTGCTGGCTGGACCTGGGTCCCGATCCTGTGTCTCCAGCTCCCCAGACTCGAGGGCGGCCCTCTGCACTGAGAAACGCGCAGCCCACTCACCGCTGAAGCCCTCCCGGCAGGTGCACACGTAGCCACTGGTCATGTCTTTGCAGGTGCTGCCGTTGACACAAGGGTTGGATTCACACTCATTGTTGTTGATGTCACAGTTGGTCCCACTCCACCCAGGGTCACAGTCGCACTTGTACCTGCAAGGGGGACCACACTGCAGGTCGAGGGAGGCCCGAGCAGCACGGCCGGGGCCTGGGCACTCCCGGGTCTGCAATGCCCTATGGGCTGGCGGAGGTGCCCATCCACTCAGACTCGCAGAGTCCTTTAGTGGGGGCAGGCTGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGTGGCTGAGTCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGCCAACATGGCGAAACTCCCCCACCCCATATATACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCTGAGGGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGACAACAGAGCAAGGCTCTGTCTCAAAATAAAGAAAAAAGTGGGGGCCGCAGCGCTTCCCATACCCAAGACTGCGGCAGGGGTTTGGTTCATTAGCGAGGGGACCATGCCAAGTGCAGGGCAGTAGGGTGCTGCGAAAAGCCCCCCACCACTTGCCCGCTGTGTGGCCCCGAACAAAGCACGTGCCTTCTCTGCGCCAAATGAGGGCAATGGGGTCCCTGCTGATTTAAATGGTCCCATCCAGGCAGAGTGCTGCCAGGCACATCATGGGCATCAGAAACACTTGCGGCTGTTACCATGGAAACGTGTTCCAGGGTCACTGTGGGCCTGTGTCCTGAGCACACCATGCAGCCCACAAGGACACGCAGCACACAGCTGCTGGGTGTGGACTGTAGTCTGACTGAGGACCCAGAGGCATGTGCGTCCCCGAGGGGAGCTCCCTGCCACCCAGCCCCGTCCGAGGCCCGTTTCTGGCCCATCTCAAGCTCTGTGCAGGTGCCACCCTCCTGGCAGCAGAGCTCCCAGGGTTTAGGACTGATGTGTCCCCATGATCGGCCCCGCCGCATACCCGTTGAGGCTGTCCCGGCAGGCCCCGTGGACGCAGGGGTTGCTGTTGCACTCATTGACCTCAGACAGGCAGGTGGGGTCGTGGTAGCCCTCGGGGCAGCGGCAGGTGAAGCCATTGATGCCGTCCTCGCAGGTGCCCCCGTTGTGGCAGGGGTTGCCCGCACACTCATCGATGTTGATGTTACACATGCTCCCTAAGGGCAGGGCGGGTCAGACTCCGAGGCCCAGCGCCCAGGGGGTCCCACCCACGTCAACCTCGATTTCCCTGTCTGTTGAGCCGGGGCGATCACCCTTCTGGCCACATCCTTCCAGGTGTCAGAAACCATCTTGGATCACAATGTGCCATGTGCCAGCCTCCCCGGGCACCAGTGCCCACTCAAGTCATCCTCCCAGGGGCCCCAGGGGCAGGGGCTACTGCAGCCCTGACTGATGAGAATCTGAGGCCCAGAGAGGCAGAGGGACCTGCTCAAAGGTGCTGGTGAGCCACAGAGGCAGAAGGTACTTAAGCCTGGCCTCAGGGCTGGCTGCTCCCTCTTGGCCTGCTGGGCCACTCTGCCAACACGGCCTGGGACAGCTCTGACCGGAGACAAGAGGGGTCGGGGGGACCCATCGTGCTGCCAGTTATAGCCCTGGTCCCGCTGCAATCTCTGCTGCAGACCACGGTCTGCCCAGGTGGGCAGCACCAAAGCCCTCACCCAACCCCTCAGCAGCCCCAGGGCAGAGTGGCTGACCTTGACCTCTGAGCACAGTGCAGTCAGCCCCCACGTGCAGGGCCGCTCACCTGTGTAGCCCGGCTCACAGGCACACTCGTAGCCATCGATCTTGTCCAGACAGGTGCCCGAGTCGCAGGGGCTGCTGGCACAGTCATCCAGGTTGATCTCGCAGTTGGGTCCTGAAGGGGTGGCACGTGTCGGTCAGTCCTCAGGCCCGCCCTGCCCACTGGCCCCCCGCCGGCCACCCGCCTGGCCGGCCACCTGTGGTCCCCTTC
|
Task1_train_13571
|
This sequence change occurs on Chromosome 9, altering NOTCH1 (notch receptor 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Adams-Oliver syndrome 5
|
GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCATGAAAATTTTCTCCCAGGCATCCTGTATCTTTGCTAATCTGCCAACCCCACCCCCGGGAGAAGGCCCACATACTGCAGGGGCCTAAGGCACTCAGTGAGGCGCAGAACCTTCTGGAAGGCCCCGCCCCAAGAAAGCCACCACTTTACCCTCCAGTCACGGCTTCCCAGGCCGCCCCCACCCCTGGCCCCACCCTCTCCAGCACAGGCTCCGCCCTCTCCAGCACAGGTCCCGCCCCTCCCACATAGGCCCCGCCCCCTCCAGCACAGGCCCCACCCACCCCTCACCTGTGTAGGGCAGCAGGCAGTTGCACTTGTACCCGGCAACGTCGTCAATACACGTGCCCTGGTTCAGACATGGGTTGGACGCACACTCGTTGATGTTGGTCTGGCAGTTGGGACCTGGAGGGAAGGGGACAGCACTCGGCATGTCCAGCACTCCCAGGCACCTTGGCAGGGCCCCACAACAGCAGCCCTGGGCCTGCTCCCCACCCCAGGCCCCTCCTCATCTCCAAGAGCCAGAGGCCTGGAGCTAAGGCTTTGCCACGGGAGGGAGACACCATGCATGGTGCTGGCTGGACCTGGGTCCCGATCCTGTGTCTCCAGCTCCCCAGACTCGAGGGCGGCCCTCTGCACTGAGAAACGCGCAGCCCACTCACCGCTGAAGCCCTCCCGGCAGGTGCACACGTAGCCACTGGTCATGTCTTTGCAGGTGCCGCCGTTGACACAAGGGTTGGATTCACACTCATTGTTGTTGATGTCACAGTTGGTCCCACTCCACCCAGGGTCACAGTCGCACTTGTACCTGCAAGGGGGACCACACTGCAGGTCGAGGGAGGCCCGAGCAGCACGGCCGGGGCCTGGGCACTCCCGGGTCTGCAATGCCCTATGGGCTGGCGGAGGTGCCCATCCACTCAGACTCGCAGAGTCCTTTAGTGGGGGCAGGCTGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGTGGCTGAGTCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGCCAACATGGCGAAACTCCCCCACCCCATATATACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCTGAGGGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGACAACAGAGCAAGGCTCTGTCTCAAAATAAAGAAAAAAGTGGGGGCCGCAGCGCTTCCCATACCCAAGACTGCGGCAGGGGTTTGGTTCATTAGCGAGGGGACCATGCCAAGTGCAGGGCAGTAGGGTGCTGCGAAAAGCCCCCCACCACTTGCCCGCTGTGTGGCCCCGAACAAAGCACGTGCCTTCTCTGCGCCAAATGAGGGCAATGGGGTCCCTGCTGATTTAAATGGTCCCATCCAGGCAGAGTGCTGCCAGGCACATCATGGGCATCAGAAACACTTGCGGCTGTTACCATGGAAACGTGTTCCAGGGTCACTGTGGGCCTGTGTCCTGAGCACACCATGCAGCCCACAAGGACACGCAGCACACAGCTGCTGGGTGTGGACTGTAGTCTGACTGAGGACCCAGAGGCATGTGCGTCCCCGAGGGGAGCTCCCTGCCACCCAGCCCCGTCCGAGGCCCGTTTCTGGCCCATCTCAAGCTCTGTGCAGGTGCCACCCTCCTGGCAGCAGAGCTCCCAGGGTTTAGGACTGATGTGTCCCCATGATCGGCCCCGCCGCATACCCGTTGAGGCTGTCCCGGCAGGCCCCGTGGACGCAGGGGTTGCTGTTGCACTCATTGACCTCAGACAGGCAGGTGGGGTCGTGGTAGCCCTCGGGGCAGCGGCAGGTGAAGCCATTGATGCCGTCCTCGCAGGTGCCCCCGTTGTGGCAGGGGTTGCCCGCACACTCATCGATGTTGATGTTACACATGCTCCCTAAGGGCAGGGCGGGTCAGACTCCGAGGCCCAGCGCCCAGGGGGTCCCACCCACGTCAACCTCGATTTCCCTGTCTGTTGAGCCGGGGCGATCACCCTTCTGGCCACATCCTTCCAGGTGTCAGAAACCATCTTGGATCACAATGTGCCATGTGCCAGCCTCCCCGGGCACCAGTGCCCACTCAAGTCATCCTCCCAGGGGCCCCAGGGGCAGGGGCTACTGCAGCCCTGACTGATGAGAATCTGAGGCCCAGAGAGGCAGAGGGACCTGCTCAAAGGTGCTGGTGAGCCACAGAGGCAGAAGGTACTTAAGCCTGGCCTCAGGGCTGGCTGCTCCCTCTTGGCCTGCTGGGCCACTCTGCCAACACGGCCTGGGACAGCTCTGACCGGAGACAAGAGGGGTCGGGGGGACCCATCGTGCTGCCAGTTATAGCCCTGGTCCCGCTGCAATCTCTGCTGCAGACCACGGTCTGCCCAGGTGGGCAGCACCAAAGCCCTCACCCAACCCCTCAGCAGCCCCAGGGCAGAGTGGCTGACCTTGACCTCTGAGCACAGTGCAGTCAGCCCCCACGTGCAGGGCCGCTCACCTGTGTAGCCCGGCTCACAGGCACACTCGTAGCCATCGATCTTGTCCAGACAGGTGCCCGAGTCGCAGGGGCTGCTGGCACAGTCATCCAGGTTGATCTCGCAGTTGGGTCCTGAAGGGGTGGCACGTGTCGGTCAGTCCTCAGGCCCGCCCTGCCCACTGGCCCCCCGCCGGCCACCCGCCTGGCCGGCCACCTGTGGTCCCCTTC
|
GAGACCCCTGAGCGCTCCCGGCTGTGCCAGGACCCTGACCCAGGGAGGAGTGGAGCACAGATGGGGGGACGCTGAAGACAAGCTGCACAAATGTCACGCTCAGAAGCCACCCCTCATTCCCGGTTGGCAGCGGGGCACAGCCTAGGCCTCACCCCACCAGGCGTGCCCAGGAACAAGGACTGCACCAGGAGAGGCGGCCTCAGTCGGGTGGGCTCCACGACACTGCAGGGACCTGGGCCCACCCCGGACGCAAGCCCCCTCATCTCTGGGTGACGAGGAAAGGCCCTGGCCTGAGACCGAGGCCTGAAACTAATCCTGGGGCTCCGTGTCACAGGCAGCAAACGCCCATCACGGGAGGCCAACAAACAAGGGCTGCGATGGAGGGGACAGGCCCAGGCCCCCAGCACATCCTGCGTGTCGGGGCACGGGGCACGGCCTGGAGACCTCCAGGGCCACGCAGGGTGTCTGGCAAAGGCTATGTGGGAACCACGTGCACAGCCGAGGGCCTTTTTCTGCACAAGCCCATGGCCGAGCTTCCTGTTTATAGCCGTGGGGACTGCGTTATCTTCCCTGTCCCCCATTATCTCCCTGGCCTGCTGGGGCGACTTTCCAGGGCCTCTCTTCCTATTGGTTTCCACGGTGACCCGGGCAGGCAGGAACTGCGCCAGAGTTTCCGACAATTGTGCGAAAGGAAGCAGGAAGCGGGCAGATAGGAAGCGGGTCAGCACCGCCGCTCCTCCTGCCGGCCCGATCGACGTGTCTGAAAGGGACAGGGGCGCCCAGCCGTGGAGGGAGGGTCCTCACTGACTGACACAGGAGAGAAAACCCAGGTCCTTAACTTCGGTCAAAGAAAACAGCGTTCTGGCCACAGGCTGCTGGATGTCATGGGAACCGCAGGCGTGGGACCTCCAGCCCGGCTGCCTGGCCCAGGCAGGCCCTCCCTGACCAGGCCCCGTGGCAGCACCCTCTGCCCGCTCCTGGGGAGCGCCAGGACCCCGGTGCTTGTGGACTCTTCTTTGTCTTTTCTAGAGGAGATCATTTCCTGTGATCCCCTTGGCTGGGTTCATAGCAGGGGCTGGACAGTTGGGGGAACATCCCCCTCCCCGCTCAGCCCAAACAGAGGGCTCCTTGTTCCGCTCACACAAAGAGAGCCCGCCATCAAAGGAATCCCTCAGGTCCGGCTGGCGGGGGTGGGGAAGCCCGGCCCCCAGAGACCCCAGCAGGGTGGGCGCCGGGAGCACGGAGCCCAGTGACCCAGGCCCGGCCCTGCTAAGGATTCACCTGCATCTTACCTGTGTCTTGCGGCAGGCTTGCCAGGTAAAACACATGCTTGCATGAAAATTTTCTCCCAGGCATCCTGTATCTTTGCTAATCTGCCAACCCCACCCCCGGGAGAAGGCCCACATACTGCAGGGGCCTAAGGCACTCAGTGAGGCGCAGAACCTTCTGGAAGGCCCCGCCCCAAGAAAGCCACCACTTTACCCTCCAGTCACGGCTTCCCAGGCCGCCCCCACCCCTGGCCCCACCCTCTCCAGCACAGGCTCCGCCCTCTCCAGCACAGGTCCCGCCCCTCCCACATAGGCCCCGCCCCCTCCAGCACAGGCCCCACCCACCCCTCACCTGTGTAGGGCAGCAGGCAGTTGCACTTGTACCCGGCAACGTCGTCAATACACGTGCCCTGGTTCAGACATGGGTTGGACGCACACTCGTTGATGTTGGTCTGGCAGTTGGGACCTGGAGGGAAGGGGACAGCACTCGGCATGTCCAGCACTCCCAGGCACCTTGGCAGGGCCCCACAACAGCAGCCCTGGGCCTGCTCCCCACCCCAGGCCCCTCCTCATCTCCAAGAGCCAGAGGCCTGGAGCTAAGGCTTTGCCACGGGAGGGAGACACCATGCATGGTGCTGGCTGGACCTGGGTCCCGATCCTGTGTCTCCAGCTCCCCAGACTCGAGGGCGGCCCTCTGCACTGAGAAACGCGCAGCCCACTCACCGCTGAAGCCCTCCCGGCAGGTGCACACGTAGCCACTGGTCATGTCTTTGCAGGTGCTGCCGTTGACACAAGGGTTGGATTCACACTCATTGTTGTTGATGTCACAGTTGGTCCCACTCCACCCAGGGTCACAGTCGCACTTGTACCTGCAAGGGGGACCACACTGCAGGTCGAGGGAGGCCCGAGCAGCACGGCCGGGGCCTGGGCACTCCCGGGTCTGCAATGCCCTATGGGCTGGCGGAGGTGCCCATCCACTCAGACTCGCAGAGTCCTTTAGTGGGGGCAGGCTGGGCGCTGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCGGGGGTGGCTGAGTCACTTGAGGCCAGGAGTTCAAGATCAGCCTGGCCAACATGGCGAAACTCCCCCACCCCATATATACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGGGAATCACTTGAACCTGAGGGGTGGAGGTTGCAGTGAGCTGAGATCATGCCATTGCACTCCAGCCTGGACAACAGAGCAAGGCTCTGTCTCAAAATAAAGAAAAAAGTGGGGGCCGCAGCGCTTCCCATACCCAAGACTGCGGCAGGGGTTTGGTTCATTAGCGAGGGGACCATGCCAAGTGCAGGGCAGTAGGGTGCTGCGAAAAGCCCCCCACCACTTGCCCGCTGTGTGGCCCCGAACAAAGCACGTGCCTTCTCTGCGCCAAATGAGGGCAATGGGGTCCCTGCTGATTTAAATGGTCCCATCCAGGCAGAGTGCTGCCAGGCACATCATGGGCATCAGAAACACTTGCGGCTGTTACCATGGAAACGTGTTCCAGGGTCACTGTGGGCCTGTGTCCTGAGCACACCATGCAGCCCACAAGGACACGCAGCACACAGCTGCTGGGTGTGGACTGTAGTCTGACTGAGGACCCAGAGGCATGTGCGTCCCCGAGGGGAGCTCCCTGCCACCCAGCCCCGTCCGAGGCCCGTTTCTGGCCCATCTCAAGCTCTGTGCAGGTGCCACCCTCCTGGCAGCAGAGCTCCCAGGGTTTAGGACTGATGTGTCCCCATGATCGGCCCCGCCGCATACCCGTTGAGGCTGTCCCGGCAGGCCCCGTGGACGCAGGGGTTGCTGTTGCACTCATTGACCTCAGACAGGCAGGTGGGGTCGTGGTAGCCCTCGGGGCAGCGGCAGGTGAAGCCATTGATGCCGTCCTCGCAGGTGCCCCCGTTGTGGCAGGGGTTGCCCGCACACTCATCGATGTTGATGTTACACATGCTCCCTAAGGGCAGGGCGGGTCAGACTCCGAGGCCCAGCGCCCAGGGGGTCCCACCCACGTCAACCTCGATTTCCCTGTCTGTTGAGCCGGGGCGATCACCCTTCTGGCCACATCCTTCCAGGTGTCAGAAACCATCTTGGATCACAATGTGCCATGTGCCAGCCTCCCCGGGCACCAGTGCCCACTCAAGTCATCCTCCCAGGGGCCCCAGGGGCAGGGGCTACTGCAGCCCTGACTGATGAGAATCTGAGGCCCAGAGAGGCAGAGGGACCTGCTCAAAGGTGCTGGTGAGCCACAGAGGCAGAAGGTACTTAAGCCTGGCCTCAGGGCTGGCTGCTCCCTCTTGGCCTGCTGGGCCACTCTGCCAACACGGCCTGGGACAGCTCTGACCGGAGACAAGAGGGGTCGGGGGGACCCATCGTGCTGCCAGTTATAGCCCTGGTCCCGCTGCAATCTCTGCTGCAGACCACGGTCTGCCCAGGTGGGCAGCACCAAAGCCCTCACCCAACCCCTCAGCAGCCCCAGGGCAGAGTGGCTGACCTTGACCTCTGAGCACAGTGCAGTCAGCCCCCACGTGCAGGGCCGCTCACCTGTGTAGCCCGGCTCACAGGCACACTCGTAGCCATCGATCTTGTCCAGACAGGTGCCCGAGTCGCAGGGGCTGCTGGCACAGTCATCCAGGTTGATCTCGCAGTTGGGTCCTGAAGGGGTGGCACGTGTCGGTCAGTCCTCAGGCCCGCCCTGCCCACTGGCCCCCCGCCGGCCACCCGCCTGGCCGGCCACCTGTGGTCCCCTTC
|
Task1_train_13572
|
A variant on Chromosome 9 in gene NOTCH1 (notch receptor 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Adams-Oliver syndrome 5
|
CAACCTGAGGAGGGCTCCGAGCGTGGCATTCCCACCTACTCAGGATTGGGGCTGAGCTGTGCTCTCGGCCTCTGGACCAGGTGGCCCAGACCAAGGTGTCCATGACCTTGTCAGTTTCACTGCCCTGAGTGCCCTGTCCCGTCCCCAGTCCCTCCCCGCTGGTGGGCGCCAGCCCGCACCTTCCGTGCACACACAGGTGTAAGTGTTGGGTCCGTCCAGGCACTTGGCACCATTCTTGCAGGGGGTGCTGGCACACTCGTCCACATCGTACTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGAGTCATGTGCAACAGCACTATGGCCCTTCAGGGACCCCTGGCCAGACCCCAGCAGTGAGCGCCTGGCTGGGCTCCCCAGGGCACACTCAGCCTGAGCTCAGCCAGCTCCAGCTCTCCCTGCCTCCCGCTGCCCGCTCCCCGGATCAAAGCCCCTCCCCCAGCACCACACGCCCTCGCTCCCACAGAAGGGGCCTTTTTCCCAAACCGACTGGGTTGCTATGGCTACAGTGGAGCCGGGCTGAGAATGGGGCTCCCCTCGCTCCAGTGTCTGGGACGGGTAATCTATGTCTTGGGAGCCTAGGCTTGGGCTGGCAACGCCTCCCTGGGCTCTGCGCCCCGGCCCCCAGCTCTGGGACAGATGGAAACACCTTTCACCCAGGCCCCTGAGAGTTCCTCCAAGTCCGCCCCGGGCAGCCATCATCTCCATTGCAGGCCAACCTGCCCCACGTGGTTCTCTGCATACCCTTGTCGCTGGCGTGCCGTTGGGCAGGGGACATGGCAGGACAGGGCAGGCTGGCCTCCCTCCCAGCATCGAGCCCTCAGAAAGCCAGGCTGGAGCCTCCTCCCTGTCTGGGCACTGCAGCTCCTGGTATACCCTTCTCTCCAGGCAGAAGGGGCTGCACCCAGATCAAGGAGGATCTCCTGGCCCTGGGCTCCACCGCGACCCCTGGGCAAGCTCCCACTCCCCACTGGGCCCTGCCCTTCCTTCGGGGAAGTCTGAAAACACTCCCATCCACTCATGAGGCAAAACCCTCGCTCTCCTGGGAATCTGAACACAACCAATGGCCAGGCCCCCCTCAGAAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAACCTACGGCCAGGCACCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAATCCACGGCCAGGCCCCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGAGCAGGGGACACAACCCACGGCCCTCACCCCTCAGGAGGCCGGGGTGCGGACGGCCCGAGGGCAGGGGGTGGGGGCGGCCCTCACCCCTCAGGAGGCCGGGGTGCAGATGGCCCGGGGGCAGGGGACACAACCCACGCCCAGGCACCCCTCAGGAGGCCAGGGTGCAGACGACCCGGGGGCAGGGGGCGGGGGTGGCCCTCACCCGTGGGGCACTCGCACTGGAACTCATTGATCTTGTCCAGGCAGCGGCCATTGTGCAGGCAGGGGCTGCTGGCACACTCGTCTGTGTTGACCTCGCAGTGCACACCCTCGTAGCCTGTGGGGTGGGGCAACAGTGAGGGGGGCACGCGCGGCCCCAGTGCCCCACTGGGCACAGCTGTGGACTTGGGACAGAAACGAACCCTGCCTCCAGCCCAGTGTCCCAGCCACCACGGGCCCCCTGCGCACCCGCTCCCCTGCAGCCCGTGGCCCCTGGCCCGGCACCCTCATCTGCCTAGCACTGCCCCCGTGCTCTGCTGGCCCTGTGGCCTGGCCTCAGTTTCCCCATGCCCTGTGCAGGCTGTGGGCCCAGAAGGCATGGAGGCTGGGGAAAGCGGAAGCAACCCACAGATGTTCCCGGGGCTGCCCCTCCAAGGCTGCCCAGCCTCGACTCGGTTTCCCGCCCTGGCCCCGGCCGACGCACCGGGCATGCAGATGCACTGGAACTCCCCAATCTGGTCCAGGCAGGTGGCGTCGTTCTGGCACGGGTTCGAGACGCACTCGTTGACGTCGATCTCGCATCGGGGGCCCGTGTAGCCCTGCAGACACTGGCACTCGAAGGAGCCCAGCGTGTTGATGCACTTGCCCGCATGCTCGCAGGGGTTGGCACCTGGCGAGGGCACACGGGTGAGAGGCTGCTCCAGGCACCCTGGCCCCTGCAACACCTCACTGCACACCACCCCCATCGGACTGGCAGGGTCCCATCCCCCATCTAACTGGGCACCCCCTGAAGCCAGAATCGACTTCTCATCGGTTCTGGGGCCAGGCTGCCACCCCCACCTGGCCGCACCCCCTGTGCTGGCACCTACCCAGCGAGCACTCATCCACGTCCTGGCTGCAGGCCGGGCCCGTGTACCCCGAGGGGCAGGTGCAGATGGCCTTGCCATTGACAGGGTTGGTGTCGCAGTTGGAGCCCTCGTTACAGGGGTTGCTGATGCATGCGTCGTTGAGGTGGCACAGCAGACCTGGGCAGGCAGCGGCGGTCAGTGGGCACGGCCCCTGGGCCAGGCATGGCACACCACCCACGGCTGGGGTCCAACCCCACTGACACCCCAGGAGGAGCTGCCCGCCGTGACCCCGTCGGGCATCCCGTGACACTTGGGACGTTCCGGGGGACTCACAGCGACCACCGGCCTCCCTGACCAGAAAGGCCCTTTCAGGTTATCCTGGGTGCAGGAGGGCCACAGTCCCTGGGTGAGGTCACACAGCTCAGGCCTGGCCCATGTGAGCCCCCTGCGCCCACCTGGGCCTCAAGGCACTCACCTGTGCGGCCATGGGGACACTCGCAGTAGAAGGAGGCCACACGGTCATGGCAGGTGGCGCCGTGGAAGCAGGCGGCGCTGGCACAGTCATCAATGTTCTCGCTGCAGTCCTCACCAGTCCAGCCGTTGACACACACGCAGTTGTAGCCACCGTGGGTGTTGTGGCAGGTCCCGCCGTTCTGGCAGGCATTTGGCATCAGCTGGCACTCGTCCACATCCTCGGTACAGTACTGACCTGCAGGGAACAGGAGCTGTCGGCCCCGGGCAGCTGCCACTCCCTGAGCTCCCTGTCCCCTAAGACGCAGGGTGGCAATGCCGCCCCCTCCAGGAAGCCTTCCTGGGCTGACTCCTCCACCCACCGCCAGCCTAAATCACTCCTTCCTCTGCAGGCCCAGCACCATGGAGTCTTGCCTCCTCTTTGTGCTCTGTGGACACTGCTGCGTCGGGGTGCACCTTTGCCCGTCACCCCACCAGAGGGTAATTCCCGAACACAGGGCCTGTCTGTTCATCCAGGCATCCCTGTGACTGGCCCAGGAAGCGTGGCCTGAGTGGGGTGCTGAAGGCCCTCAATGCCAGGACACCCCACTGGGCACAGGGGCTGCCTGGAGCCAGGTTGCAAACGGCCCACACAGACCAACCAGGGCCCTGTCTGTGCTGACCCCCGAGGTGAGGGGCACCAGACCCTGGCCACGGGAAGTGGGGCCCCCATCATGTTGTCCTTCTCGGCCAACCCTAGTCTGCCTGGCCTGGGACAGGGTCTCGGCTGCTCCCCGCTATGCCTGTGAGTGCAGTTTAGTAAGTGGGTAGCAGCCCCGCCCCGGCTACCCCGCCCTGCGGCGACCCGTATACGCGCCTGTCCACTCTGGCGGGCAGCGGCAGTTGTAGGTGTTCACGCCGTCCACACAGGCACCCCCGTTCTTGCAGTTGTTTCCTGGACAATCGTCGATATTTTCCTCACAGTTCTGGCCGGTGAAGCCTGCCGCAAGAGGGGCCGGGTCAGCCTCTTCCCTGAGGTCCAGTCCGGCTCCTGCCTGGACCCCCGACACACTGCTCTGGACACAAGAGCCTGGCCTCCACGGCCCTGCCCTGGGGCCCCCGGGGTCTGTGCCCGTCCCCTGCCTCACTCCAGTGCCCAGAGGGACACGCCCTGCTTGAAAGAATCATTTTGGACAGGACTGGCTAAACAGGGACTCAGGAACACAGGGTTCCAGAAGATTCTGTCACAAAAACCCTTGGGTCTCTTTTAAGAGGTTCCGGCAGCTCCTGCACCTGGGTGCCGCCTGCATGCTCAGAGCTCCCTACAATGTC
|
CAACCTGAGGAGGGCTCCGAGCGTGGCATTCCCACCTACTCAGGATTGGGGCTGAGCTGTGCTCTCGGCCTCTGGACCAGGTGGCCCAGACCAAGGTGTCCATGACCTTGTCAGTTTCACTGCCCTGAGTGCCCTGTCCCGTCCCCAGTCCCTCCCCGCTGGTGGGCGCCAGCCCGCACCTTCCGTGCACACACAGGTGTAAGTGTTGGGTCCGTCCAGGCACTTGGCACCATTCTTGCAGGGGGTGCTGGCACACTCGTCCACATCGTACTGGCACAGATGCCCAGTGAAGCCTGGGGCCGGGGAGGGGAGGGGAGGGAGTCATGTGCAACAGCACTATGGCCCTTCAGGGACCCCTGGCCAGACCCCAGCAGTGAGCGCCTGGCTGGGCTCCCCAGGGCACACTCAGCCTGAGCTCAGCCAGCTCCAGCTCTCCCTGCCTCCCGCTGCCCGCTCCCCGGATCAAAGCCCCTCCCCCAGCACCACACGCCCTCGCTCCCACAGAAGGGGCCTTTTTCCCAAACCGACTGGGTTGCTATGGCTACAGTGGAGCCGGGCTGAGAATGGGGCTCCCCTCGCTCCAGTGTCTGGGACGGGTAATCTATGTCTTGGGAGCCTAGGCTTGGGCTGGCAACGCCTCCCTGGGCTCTGCGCCCCGGCCCCCAGCTCTGGGACAGATGGAAACACCTTTCACCCAGGCCCCTGAGAGTTCCTCCAAGTCCGCCCCGGGCAGCCATCATCTCCATTGCAGGCCAACCTGCCCCACGTGGTTCTCTGCATACCCTTGTCGCTGGCGTGCCGTTGGGCAGGGGACATGGCAGGACAGGGCAGGCTGGCCTCCCTCCCAGCATCGAGCCCTCAGAAAGCCAGGCTGGAGCCTCCTCCCTGTCTGGGCACTGCAGCTCCTGGTATACCCTTCTCTCCAGGCAGAAGGGGCTGCACCCAGATCAAGGAGGATCTCCTGGCCCTGGGCTCCACCGCGACCCCTGGGCAAGCTCCCACTCCCCACTGGGCCCTGCCCTTCCTTCGGGGAAGTCTGAAAACACTCCCATCCACTCATGAGGCAAAACCCTCGCTCTCCTGGGAATCTGAACACAACCAATGGCCAGGCCCCCCTCAGAAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAACCTACGGCCAGGCACCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGGGCAGGGGACACAATCCACGGCCAGGCCCCCCTCAGGAGGCCGGGGTGCAGACGGCCCAGGAGCAGGGGACACAACCCACGGCCCTCACCCCTCAGGAGGCCGGGGTGCGGACGGCCCGAGGGCAGGGGGTGGGGGCGGCCCTCACCCCTCAGGAGGCCGGGGTGCAGATGGCCCGGGGGCAGGGGACACAACCCACGCCCAGGCACCCCTCAGGAGGCCAGGGTGCAGACGACCCGGGGGCAGGGGGCGGGGGTGGCCCTCACCCGTGGGGCACTCGCACTGGAACTCATTGATCTTGTCCAGGCAGCGGCCATTGTGCAGGCAGGGGCTGCTGGCACACTCGTCTGTGTTGACCTCGCAGTGCACACCCTCGTAGCCTGTGGGGTGGGGCAACAGTGAGGGGGGCACGCGCGGCCCCAGTGCCCCACTGGGCACAGCTGTGGACTTGGGACAGAAACGAACCCTGCCTCCAGCCCAGTGTCCCAGCCACCACGGGCCCCCTGCGCACCCGCTCCCCTGCAGCCCGTGGCCCCTGGCCCGGCACCCTCATCTGCCTAGCACTGCCCCCGTGCTCTGCTGGCCCTGTGGCCTGGCCTCAGTTTCCCCATGCCCTGTGCAGGCTGTGGGCCCAGAAGGCATGGAGGCTGGGGAAAGCGGAAGCAACCCACAGATGTTCCCGGGGCTGCCCCTCCAAGGCTGCCCAGCCTCGACTCGGTTTCCCGCCCTGGCCCCGGCCGACGCACCGGGCATGCAGATGCACTGGAACTCCCCAATCTGGTCCAGGCAGGTGGCGTCGTTCTGGCACGGGTTCGAGACGCACTCGTTGACGTCGATCTCGCATTGGGGGCCCGTGTAGCCCTGCAGACACTGGCACTCGAAGGAGCCCAGCGTGTTGATGCACTTGCCCGCATGCTCGCAGGGGTTGGCACCTGGCGAGGGCACACGGGTGAGAGGCTGCTCCAGGCACCCTGGCCCCTGCAACACCTCACTGCACACCACCCCCATCGGACTGGCAGGGTCCCATCCCCCATCTAACTGGGCACCCCCTGAAGCCAGAATCGACTTCTCATCGGTTCTGGGGCCAGGCTGCCACCCCCACCTGGCCGCACCCCCTGTGCTGGCACCTACCCAGCGAGCACTCATCCACGTCCTGGCTGCAGGCCGGGCCCGTGTACCCCGAGGGGCAGGTGCAGATGGCCTTGCCATTGACAGGGTTGGTGTCGCAGTTGGAGCCCTCGTTACAGGGGTTGCTGATGCATGCGTCGTTGAGGTGGCACAGCAGACCTGGGCAGGCAGCGGCGGTCAGTGGGCACGGCCCCTGGGCCAGGCATGGCACACCACCCACGGCTGGGGTCCAACCCCACTGACACCCCAGGAGGAGCTGCCCGCCGTGACCCCGTCGGGCATCCCGTGACACTTGGGACGTTCCGGGGGACTCACAGCGACCACCGGCCTCCCTGACCAGAAAGGCCCTTTCAGGTTATCCTGGGTGCAGGAGGGCCACAGTCCCTGGGTGAGGTCACACAGCTCAGGCCTGGCCCATGTGAGCCCCCTGCGCCCACCTGGGCCTCAAGGCACTCACCTGTGCGGCCATGGGGACACTCGCAGTAGAAGGAGGCCACACGGTCATGGCAGGTGGCGCCGTGGAAGCAGGCGGCGCTGGCACAGTCATCAATGTTCTCGCTGCAGTCCTCACCAGTCCAGCCGTTGACACACACGCAGTTGTAGCCACCGTGGGTGTTGTGGCAGGTCCCGCCGTTCTGGCAGGCATTTGGCATCAGCTGGCACTCGTCCACATCCTCGGTACAGTACTGACCTGCAGGGAACAGGAGCTGTCGGCCCCGGGCAGCTGCCACTCCCTGAGCTCCCTGTCCCCTAAGACGCAGGGTGGCAATGCCGCCCCCTCCAGGAAGCCTTCCTGGGCTGACTCCTCCACCCACCGCCAGCCTAAATCACTCCTTCCTCTGCAGGCCCAGCACCATGGAGTCTTGCCTCCTCTTTGTGCTCTGTGGACACTGCTGCGTCGGGGTGCACCTTTGCCCGTCACCCCACCAGAGGGTAATTCCCGAACACAGGGCCTGTCTGTTCATCCAGGCATCCCTGTGACTGGCCCAGGAAGCGTGGCCTGAGTGGGGTGCTGAAGGCCCTCAATGCCAGGACACCCCACTGGGCACAGGGGCTGCCTGGAGCCAGGTTGCAAACGGCCCACACAGACCAACCAGGGCCCTGTCTGTGCTGACCCCCGAGGTGAGGGGCACCAGACCCTGGCCACGGGAAGTGGGGCCCCCATCATGTTGTCCTTCTCGGCCAACCCTAGTCTGCCTGGCCTGGGACAGGGTCTCGGCTGCTCCCCGCTATGCCTGTGAGTGCAGTTTAGTAAGTGGGTAGCAGCCCCGCCCCGGCTACCCCGCCCTGCGGCGACCCGTATACGCGCCTGTCCACTCTGGCGGGCAGCGGCAGTTGTAGGTGTTCACGCCGTCCACACAGGCACCCCCGTTCTTGCAGTTGTTTCCTGGACAATCGTCGATATTTTCCTCACAGTTCTGGCCGGTGAAGCCTGCCGCAAGAGGGGCCGGGTCAGCCTCTTCCCTGAGGTCCAGTCCGGCTCCTGCCTGGACCCCCGACACACTGCTCTGGACACAAGAGCCTGGCCTCCACGGCCCTGCCCTGGGGCCCCCGGGGTCTGTGCCCGTCCCCTGCCTCACTCCAGTGCCCAGAGGGACACGCCCTGCTTGAAAGAATCATTTTGGACAGGACTGGCTAAACAGGGACTCAGGAACACAGGGTTCCAGAAGATTCTGTCACAAAAACCCTTGGGTCTCTTTTAAGAGGTTCCGGCAGCTCCTGCACCTGGGTGCCGCCTGCATGCTCAGAGCTCCCTACAATGTC
|
Task1_train_13573
|
This variant affects gene NOTCH1 (notch receptor 1) located on Chromosome 9. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Tetralogy of Fallot
|
AGGAGACAGTGCTGACGTGCCAGGCAGGCTGTGCGACCCCAAATCCCAGCCAGTTCCCGGGCCTGCAGAGCTCAGGGCCGCCCCCATCTCGGTTCCCCGTGACTCCACACACAGCTGTCTCCTGGGCTCCTGACCACCCAGAGGTGGCTGAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCCCAGCACCCCAGCCTCTGAGATCTACCCACACTCAAGTGAGTGAACCCCACCAGCCCCTCCCCTTCCCTCCCTGCCCACTCCCCAGGGCCCTGAGCTGCCCCTGCACGGGCAGTGGCTCTGAGCCGGCCCAGCACCCCTGGCATCTCTGCCGCTGGGCCTCACCAGGAGGTCCTCACCCACCCTGCCCAAGGCGGGTGGGCATCAGCTCTGCACACAGGTGGCCTTGGACAAGGCCGCACACACCCCACCTGCCCTAGCCTGAACCACGGCCCCCCAAGAGCTTGGCCCCTCAATCCGTGTGACTGGAGGTAGGGTCCCGTGCTGCTAGGAAGGCATCTGAGCCCCCACCAGCAGAAGGGCTCTGCGCCCCACCCTGCAGAGATCCAAGCTGGCCAGGGAGTGTCTGTCCCCACCCCACGCTCGCCCAGTGACTTGCAGGAAACGCACACGTCTGGTGTCTGCACGCAGAGGTGGCTGGGCTCAGCTGACTGGGCAGCCAGGGAGCTTCCCCTTTGCAGGGGCCAGGCCAGCTTGGGGCTTCCAAGGGGGTGGGGCAGCCCTTGGGCCACCCGTGGGTCAGCCAGGACCCTGTGCACCCTCCAGCCCCACCCCTGCCTGAATGCCCTCTCCCCATTCCCACCTAACAGCCATTCTGTGCAGCTGAGATTGGAGGTTTTCTTTTTTCTCTTCACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCACGCGCGGCCGAGACTGGAGGTTTTCAAAACTCTTCCTTATTTTTAGAGCTGCTGCAAAATTTACTCAAACAAGAACTACAGCAGAGAGGCTCCTACGTACAACACGGGGATCGGGGAGCACTGGGGACACGGGCAGGCGGCTGCGCCTACCTGTCACCCACACCCGCAGGAGACCAGCAGGATGGCAGGAAGGGCCATGGCTTGGGAAGTGATGGTGCCCCCGCAGCTCCCACGCCCTCTCCGGCCCCAGCCCCACTGCAGGGGAAACCCTGGGGGTTGCGCAAGTCAGGGTGCCTGCACTGGGGGGAGGCAGGGCGTCCTACAGCTCGAATGTGAGTTCCGGGAAACTCCAGAGACACGGGCTGGCACCTGGACCCTGTGCAAGCCTCCTCCCAGCGCACACCCCGCTCCAGACGCGTCCCCCCGACACCACACGCAGTCTGGGGAACTCGCCATCCCGCCTTCCCAACTCCCCGCCATGGGCCCTCCCAGGGCTGCCCCTACACCAGGCGCCCCGTTCCCACCCCCTGGGCCTGGCAGCCGGGGAGGGGCTCGTGCACCCCGGCCAGCGGGCAGCACTACCTGGCAGGCAGGCACACTCGTGGGTGACGTCGCCCGTGGGGCGGCAGGTGCCCCCGTTCTGGCAGGGCGAGGGGCTGCAGGGCACGTAGGGCCGCTCGCAGTTGGGGCCAGTGTGGGTGGCGCGGCAGACGCAGCGGTAGGAGCCGACCTCGTTGTGGCAGGTGCCTCCGTGGCGGCAAAGCCCGGGCTTCTGGCCACACTCGTTGACATCCTGCCGGCAGGTGGGGCCATGGAAGCTGGGTGGGCAGTGGCAGATGTAGGAGGCCTCGAAGGGCAGGCACTGGCCACCGTTGGCGCAGGGGTTGGAGGCGCACGGGTCAGCCTGCTGGCACGATTTCCCTGGAGACAAGGGGACAAGAGGGTCGTGCTGGCCTCACTGCTCCCCGAGGCCGGGCCTTCCCTCCCTTCAGGCCACCTGGAGGTGCCAGCCTGGGCTCCACCTTAGGTGCTATCACATTTGATCCTCAGGACCTGCCGTGAGACCGGTCGCCTTTGGCAGATGAAGGACCACAGCTCCCAAGAGGCCTGAGCCTGGGCCGTCTCTTCCCAGAGCTGACACCTCCAGACACCCTTCACCCTAACAGGTGAGGGCCAGTGCACGGCAGGAGGAAGGGGGCAGGGGCGGCCTGGACACAGAGGCTCCCCTTGTCTCGCAGAAGCGGGGACAGCAAGAGTTGGGCCAGAGCAAGCAGCTGAAAACGAGGCGATTCCAGGTCTGGGAGGGGGGCAGGGACCCTGGGGCAGGGGCTCCCAATTACTTCCGGGTCAGAGACCCGGGCCTGGATCCCGCCAAGTACCTCAAGTTGCCTGGGCAGCTGGCGGCGGGCCTGGGTCTGCCCACCCCTCAGGCTGTGGGTCCTCCCTCACCTGACCAGCCGGGCGGGCAGCGGCACTTGTACTCCGTCAGCGTGAGCAGGTCGCAGGTGCCCCCGTTGCGGCAGGGGTTGGTGAGGCAGGCATTGTCCAGGGGTGTCAGGCAGAGGGGCCCAGAGAAGCCCAGGGCACAGCTGCAGGCATAGTCTGCCACGCCTCTGCGGTCCACCACGTGGCATGTCCCGGCGTTCTTGCAGGGGGTGCTGAGGCACGGGTTGGGGTCCTGGCATCGCGGGCCCACGAAGGCCCCGCCACAGCTGTTGGCAGATGTGCCAGGGCAGTTAGTTCCCACCTGCTTCCCCAGCGCCCCCGCCACTCAGCACCGGGAACCTGTCATGGGCACAGCCGCCTCCCCCCACACCCCGGGCACGGGCACAACGGCTGCTTAGCGGGGTTCCCTTAGGGCTGATAAAATGTTCTGGAACCAGACACATGCCGCGATTGCACAACTTTGGGAATGTACTGAATGCCACTGAATGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCAAAAAAAGAAAGAAAGAAGAAGACAAATGACTGCTAACTTGGGGAACAAGCTAGAGACTAGGATGTTCCAGCAGAACCCAGCTTGGACTCCACAGCCCGGGCAGGGGTCTGGGTCTACACCCGCGGAGAGCCATGGAGAGGAGCCGGGTGCATTAGCTCCGTAGAGCCTCCGGGTCTGCAGGCCTATCTGCTTTTCTTCCCAGCTTTGCTAAAGCGAACAGGCATTGCTTGGGCAGTAACAAAGGCCGTGGTTTTTCCAACCTTCAGGTGTCAACATGATGGCAGCCACGGAAAGTGTGGATCAGCCCCTTCCTACGTGGAAGCCTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCGCCCGGCCAGGAAGCCTTTCTGATGGGACACCTCAGGCTGAGACTGCAATGGGGATGGGACATCTCATGTCAAGATCGCACTGGGGATGAAGGCTGGCCCGTTCCCTGCCCACGCTCAGCCCCCAGACACGTTT
|
AGGAGACAGTGCTGACGTGCCAGGCAGGCTGTGCGACCCCAAATCCCAGCCAGTTCCCGGGCCTGCAGAGCTCAGGGCCGCCCCCATCTCGGTTCCCCGTGACTCCACACACAGCTGTCTCCTGGGCTCCTGACCACCCAGAGGTGGCTGAGGGCCCTTCAGGGGGCCTGGGTGCAGGGGCCGCCGGGGACAGTCTGAAGCTGGGGTCTGGCAGGCCTGAGTCATTTGGGGAGGCCCCCGGATGGTCATCTCACCCTGAAACGGCCAGACTCCACAGCAGGCAGTGAGCACACCCCTCACCGGACGGGTGACCCAGCCCCCAGCACCCCAGCCTCTGAGATCTACCCACACTCAAGTGAGTGAACCCCACCAGCCCCTCCCCTTCCCTCCCTGCCCACTCCCCAGGGCCCTGAGCTGCCCCTGCACGGGCAGTGGCTCTGAGCCGGCCCAGCACCCCTGGCATCTCTGCCGCTGGGCCTCACCAGGAGGTCCTCACCCACCCTGCCCAAGGCGGGTGGGCATCAGCTCTGCACACAGGTGGCCTTGGACAAGGCCGCACACACCCCACCTGCCCTAGCCTGAACCACGGCCCCCCAAGAGCTTGGCCCCTCAATCCGTGTGACTGGAGGTAGGGTCCCGTGCTGCTAGGAAGGCATCTGAGCCCCCACCAGCAGAAGGGCTCTGCGCCCCACCCTGCAGAGATCCAAGCTGGCCAGGGAGTGTCTGTCCCCACCCCACGCTCGCCCAGTGACTTGCAGGAAACGCACACGTCTGGTGTCTGCACGCAGAGGTGGCTGGGCTCAGCTGACTGGGCAGCCAGGGAGCTTCCCCTTTGCAGGGGCCAGGCCAGCTTGGGGCTTCCAAGGGGGTGGGGCAGCCCTTGGGCCACCCGTGGGTCAGCCAGGACCCTGTGCACCCTCCAGCCCCACCCCTGCCTGAATGCCCTCTCCCCATTCCCACCTAACAGCCATTCTGTGCAGCTGAGATTGGAGGTTTTCTTTTTTCTCTTCACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTCCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTTGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGAGTACAGGCGTGAGCCACCACGCGCGGCCGAGACTGGAGGTTTTCAAAACTCTTCCTTATTTTTAGAGCTGCTGCAAAATTTACTCAAACAAGAACTACAGCAGAGAGGCTCCTACGTACAACACGGGGATCGGGGAGCACTGGGGACACGGGCAGGCGGCTGCGCCTACCTGTCACCCACACCCGCAGGAGACCAGCAGGATGGCAGGAAGGGCCATGGCTTGGGAAGTGATGGTGCCCCCGCAGCTCCCACGCCCTCTCCGGCCCCAGCCCCACTGCAGGGGAAACCCTGGGGGTTGCGCAAGTCAGGGTGCCTGCACTGGGGGGAGGCAGGGCGTCCTACAGCTCGAATGTGAGTTCCGGGAAACTCCAGAGACACGGGCTGGCACCTGGACCCTGTGCAAGCCTCCTCCCAGCGCACACCCCGCTCCAGACGCGTCCCCCCGACACCACACGCAGTCTGGGGAACTCGCCATCCCGCCTTCCCAACTCCCCGCCATGGGCCCTCCCAGGGCTGCCCCTACACCAGGCGCCCCGTTCCCACCCCCTGGGCCTGGCAGCCGGGGAGGGGCTCGTGCACCCCGGCCAGCGGGCAGCACTACCTGGCAGGCAGGCACACTCGTGGGTGACGTCGCCCGTGGGGCGGCAGGTGCCCCCGTTCTGGCAGGGCGAGGGGCTGCAGGGCACGTAGGGCCGCTCGCAGTTGGGGCCAGTGTGGGTGGCGCGGCAGACGCAGCGGTAGGAGCCGACCTCGTTGTGGCAGGTGTCTCCGTGGCGGCAAAGCCCGGGCTTCTGGCCACACTCGTTGACATCCTGCCGGCAGGTGGGGCCATGGAAGCTGGGTGGGCAGTGGCAGATGTAGGAGGCCTCGAAGGGCAGGCACTGGCCACCGTTGGCGCAGGGGTTGGAGGCGCACGGGTCAGCCTGCTGGCACGATTTCCCTGGAGACAAGGGGACAAGAGGGTCGTGCTGGCCTCACTGCTCCCCGAGGCCGGGCCTTCCCTCCCTTCAGGCCACCTGGAGGTGCCAGCCTGGGCTCCACCTTAGGTGCTATCACATTTGATCCTCAGGACCTGCCGTGAGACCGGTCGCCTTTGGCAGATGAAGGACCACAGCTCCCAAGAGGCCTGAGCCTGGGCCGTCTCTTCCCAGAGCTGACACCTCCAGACACCCTTCACCCTAACAGGTGAGGGCCAGTGCACGGCAGGAGGAAGGGGGCAGGGGCGGCCTGGACACAGAGGCTCCCCTTGTCTCGCAGAAGCGGGGACAGCAAGAGTTGGGCCAGAGCAAGCAGCTGAAAACGAGGCGATTCCAGGTCTGGGAGGGGGGCAGGGACCCTGGGGCAGGGGCTCCCAATTACTTCCGGGTCAGAGACCCGGGCCTGGATCCCGCCAAGTACCTCAAGTTGCCTGGGCAGCTGGCGGCGGGCCTGGGTCTGCCCACCCCTCAGGCTGTGGGTCCTCCCTCACCTGACCAGCCGGGCGGGCAGCGGCACTTGTACTCCGTCAGCGTGAGCAGGTCGCAGGTGCCCCCGTTGCGGCAGGGGTTGGTGAGGCAGGCATTGTCCAGGGGTGTCAGGCAGAGGGGCCCAGAGAAGCCCAGGGCACAGCTGCAGGCATAGTCTGCCACGCCTCTGCGGTCCACCACGTGGCATGTCCCGGCGTTCTTGCAGGGGGTGCTGAGGCACGGGTTGGGGTCCTGGCATCGCGGGCCCACGAAGGCCCCGCCACAGCTGTTGGCAGATGTGCCAGGGCAGTTAGTTCCCACCTGCTTCCCCAGCGCCCCCGCCACTCAGCACCGGGAACCTGTCATGGGCACAGCCGCCTCCCCCCACACCCCGGGCACGGGCACAACGGCTGCTTAGCGGGGTTCCCTTAGGGCTGATAAAATGTTCTGGAACCAGACACATGCCGCGATTGCACAACTTTGGGAATGTACTGAATGCCACTGAATGAGGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCAAAAAAAGAAAGAAAGAAGAAGACAAATGACTGCTAACTTGGGGAACAAGCTAGAGACTAGGATGTTCCAGCAGAACCCAGCTTGGACTCCACAGCCCGGGCAGGGGTCTGGGTCTACACCCGCGGAGAGCCATGGAGAGGAGCCGGGTGCATTAGCTCCGTAGAGCCTCCGGGTCTGCAGGCCTATCTGCTTTTCTTCCCAGCTTTGCTAAAGCGAACAGGCATTGCTTGGGCAGTAACAAAGGCCGTGGTTTTTCCAACCTTCAGGTGTCAACATGATGGCAGCCACGGAAAGTGTGGATCAGCCCCTTCCTACGTGGAAGCCTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGGGGCGCGATCTAGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGACACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCTTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCGCGCCCGGCCAGGAAGCCTTTCTGATGGGACACCTCAGGCTGAGACTGCAATGGGGATGGGACATCTCATGTCAAGATCGCACTGGGGATGAAGGCTGGCCCGTTCCCTGCCCACGCTCAGCCCCCAGACACGTTT
|
Task1_train_13574
|
Gene AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Congenital generalized lipodystrophy type 1
|
TCCCTAGACCCCGGTGGAGCAGAGAGGGCGGGGGCCGGCCCAGGGTCACTGCCCTTCTGCACCCACAGAAGCTGCAGCTGGTGCTGGCCCCACTGCACAGCCTGGCCTCGCAGGCACTGGAGCATGGGCTCCCGGACCCCGGCAGCCTCCTGGTGCACTCCTTCCAGCAGCTCGGCCGCATCGACTCCCTGAGCGAGCAGATTTCCTTCCTGGAGGAGCAGCTGGGGTCCTGTGAGTGCCCCCACCCTCCAGAGCCCTCCTCCCGGGTCTGGGCCCAGTGGGCCTAGAGGGGCTACCCAGGCTTGGGGGTCGGGGGCGACCAAAGGCCAAGGGGCCAGTCAGATCTAGCTGGGCGGGGAGGCTGTGGGGAGCAGTGATCTCTGACCTTCGCCTCATCCAACCCTAGGCTCCTGCAAGAAAGACTCGTGACTGCCCAGCGCCCCAGGCTGGACTGAGCCCCTCACGCCGCCCTGCAGCCCCCATGCCCCTGCCCAACATGCTGGGGGTCCAGAAACCACCTCGGGGTGACTGAGCGGAAGGCCAGGCAGGGCCTTCCTCCTCTTCCTCCTCCCCTTCCTCGGGAGGCTCCCCAGACCCTGGCATGGGATGGGCTGGGATCTTCTCTGTGAATCCACCCCTGGCTACCCCCACCCTGGCTACCCCAACGGCATCCCAAGGCCAGGTGGGCCCTCAGCTGAGGGAAGGTACGAGCTCCCTGCTGGAGCCTGGGACCCATGGCACAGGCCAGGCAGCCCGGAGGCTGGGTGGGGCCTCAGTGGGGGCTGCTGCCTGACCCCCAGCACAATAAAAATGAAACGTGAGCTGCTGTGTCAGTGGATGGACTGGGGGCCTGGGAGGAGGGCGCTCACCTCCTGGCCACCCCTCCCAGACCCACTGCTGGGTGCCAGCTGGCAAAGGGGGCCTGGTGGAGCGGGCAGTCGTGGGGTGGGGAGGGGGTCCAAGGCAGAGGGGGTGGGCAGGTGGTTTCTGTGAGGCCACAGAGAGCTTTGTCCTGGGGACATGTTGGCCCCAACCAGAGGCCAAAGAGCAAATCTCTGGCCTCCTTCCCAGTAGCCTGAGGATCCCGGCACACTTGCCCGTTAGGCGACACCCCCACCCATCGATGGAAGTAGTATAGGGTGATGTGGGTCCACTCCTGGATAGGGAACACGGGTGGGTGGCGGTGCCTGCACCCTGGGCCTCTAGGCAGGGCAGCTGGGAAGACACAGCGTCGCCTCCACCGCCCTGGTCACCTGCCCGCCCTGTGAGTGACCACAGCTCCCCAGCCACTTCCAAGAGTGTGTTTATAAAAAAACAGCAACGGAGTACAGTGCTGACCCCACAGAGTCTTCCAGGCCAGCAGGAGCAGCAGGCCCCGATTCCCGGCTCCCTGTGGCCCAGGGTGCGTGAGTCTGGGACTCCTGGCCCTCCAGGCCCCTCCTCTCCCAGAGAGCCTGATGCAGCTTGTGGGCTGGACCCTGGAGCCCAGCTGCACCCTGGTGGGTCCCAGGCGGCTGAGCAGAGGGCTCGGACAGTGTGCGTCTGGCCTCGGGGTCCTCCCATCTGCTCCTGGGCCATCGGGGGCCTTGTGGCTCAGCCCACCAGCGGGCCACAGCCGCAAGCCTCATCTTTATCATCCCAGCTCCCAGAGGTGCCGTGGGCGCGAGTCCCTGCCCTCGAGCCCGGGGAGGGTCCAGCTGAGCCCCCTGCAGGGGACACCAGGGGCCTGTGTCTGAGGCCAGTGACAGAAGGGGCTTCCTGCTTCCCGGGCTGAGTGAGAGCTGGGGGAGCCGGACAGAGTGGTATTTGGAAGCCGGGAGGAGTCCCCTCTGCCCATCCTCCAGCCATCGGCTTCCACCTGCCCTCCCCAGGTCATGCCCTGCCGTGGTCTGGGCTACTGGGCCGGCTGCACGCCAGACCCCGCAGTGGCCCCGTTCTCCTGGGGGGTCTTGGAGATGTGGAGGAAGGTGGTCCTCATGGCCCGGTGGCAGGTGTCCACGAGCGCAGGGACGTCCGCCGCAGTGAGGCCGCTGGTGGGGATGGCTTCCAGCACCTGCACTGTGACTGTTCCTGTGGGGGAAGCAACAGACCTCAGTGGCCTGTGGGGAGCTGGGGCCCACCTCAGCCTGCTGCCCTGGCCTCGCCTCTCCCCAGCCCCCCACAGCCCCTCCCTGGGAAGCCCGAGGCCGGGCTCTTCCCCTGGACTCCCTAGCCGTGGTGGGTTATTTTAATTGCAGTAACGTTGCTGCAGTAAACCCCATGGCTGCCTGGCCTTCACGCCGCATTTTCGACAAGTCTGCGCTCCCCTGTTACTGCCCCCAGAAAGCCCCACTTCCTGATCAGCCCCTACCTCACTGCCTGGCCTCTGCCCTCCATACGGGGCGAGGGGCTGTGGGAGAGATGGAGCTGGGTTCCCCCACTGCTCTCCAACTTTGACCCCACTGTCCTGCCTGGGCACCAGGTGCCCACGTTCTGGGAACTGGCTGGAAGGGGCAAGAGGTCATGAGCCCCGCAGCCTGTGCCCCTGGGCTGCCTGGGTTCCATCTACCCTATGCGGGCATCAGCCTGGACACATGGGCTCAGAGGCCGCCCTCCAGGCCCCCAAGCTGTGTGCACAGCTGGGGTCCATCCGTGTGAAGTCTCTTGGAGCCTCAGTTTTCTCATCTGAAAAATGGGCCCAGCACCACCCATCTCACAGGGCCATGAGGCCATGAAGCCCACAGCTGGGACTCCAGCCTGAGTCACTCATTCGCCACATGGTCACCGTGTGGCCACGCCACGGGTGCCACCCGGAAATGGGAACGATGAGGGGCCCGGGGCTCCGTGACTGTAGGGTCAGGCGGGGCCTACACCCCGGGTGCACACATGTGGGGGTACCTGAAGTGAAGAACTTCTTCTTGGTGTTGTAGAAGGAGGAGAAGGAAGAGTACACCACGGGGACGATGGGCACCTGCAGGCAGGGAGACGCACAGCTGAGGCAGCCCTGGGGACAGGCCAGGCACACCCCAGGCTGCATGTGGTTGGGGAGCCCTGTCCTGCGGCCCACCCACCCCTGCCTTCGCTGCTGCCATGGGTCCTTGTGGCTGTCCTGCCCCTGGGACCTGGGATATGTGTCCTGCTCTGGTTGGCCCAGAGTTCCATAAGCTCATCCTGCAAATTTTTACTCATCTCCTCTAGGAAGCCCTCCTGAGCTAGCACGTGTTTGCCTGGTTCACACCTGTCCCCATATTGGGTCTGCAGCTAGCCAGGGGGGCAGGGCCCTGTCCGGTTTAGGAGGAGATTATGGCACTCTTCCCTGCCCACGCCTCTCTCCCAGTCCTCTCCATCTCAGGAAGCCAGTGAGGGAGGCAGCCCTAGCCCGGGGGAGGGGTGGAGCCTGCTGGTGTTCCTGGAAGTCACCGGGGTCAAATCCAAGGGCACTTGGGGGTGATCATTAACCCGAGGCAGCCAGGGAACCTCCAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGA
|
TCCCTAGACCCCGGTGGAGCAGAGAGGGCGGGGGCCGGCCCAGGGTCACTGCCCTTCTGCACCCACAGAAGCTGCAGCTGGTGCTGGCCCCACTGCACAGCCTGGCCTCGCAGGCACTGGAGCATGGGCTCCCGGACCCCGGCAGCCTCCTGGTGCACTCCTTCCAGCAGCTCGGCCGCATCGACTCCCTGAGCGAGCAGATTTCCTTCCTGGAGGAGCAGCTGGGGTCCTGTGAGTGCCCCCACCCTCCAGAGCCCTCCTCCCGGGTCTGGGCCCAGTGGGCCTAGAGGGGCTACCCAGGCTTGGGGGTCGGGGGCGACCAAAGGCCAAGGGGCCAGTCAGATCTAGCTGGGCGGGGAGGCTGTGGGGAGCAGTGATCTCTGACCTTCGCCTCATCCAACCCTAGGCTCCTGCAAGAAAGACTCGTGACTGCCCAGCGCCCCAGGCTGGACTGAGCCCCTCACGCCGCCCTGCAGCCCCCATGCCCCTGCCCAACATGCTGGGGGTCCAGAAACCACCTCGGGGTGACTGAGCGGAAGGCCAGGCAGGGCCTTCCTCCTCTTCCTCCTCCCCTTCCTCGGGAGGCTCCCCAGACCCTGGCATGGGATGGGCTGGGATCTTCTCTGTGAATCCACCCCTGGCTACCCCCACCCTGGCTACCCCAACGGCATCCCAAGGCCAGGTGGGCCCTCAGCTGAGGGAAGGTACGAGCTCCCTGCTGGAGCCTGGGACCCATGGCACAGGCCAGGCAGCCCGGAGGCTGGGTGGGGCCTCAGTGGGGGCTGCTGCCTGACCCCCAGCACAATAAAAATGAAACGTGAGCTGCTGTGTCAGTGGATGGACTGGGGGCCTGGGAGGAGGGCGCTCACCTCCTGGCCACCCCTCCCAGACCCACTGCTGGGTGCCAGCTGGCAAAGGGGGCCTGGTGGAGCGGGCAGTCGTGGGGTGGGGAGGGGGTCCAAGGCAGAGGGGGTGGGCAGGTGGTTTCTGTGAGGCCACAGAGAGCTTTGTCCTGGGGACATGTTGGCCCCAACCAGAGGCCAAAGAGCAAATCTCTGGCCTCCTTCCCAGTAGCCTGAGGATCCCGGCACACTTGCCCGTTAGGCGACACCCCCACCCATCGATGGAAGTAGTATAGGGTGATGTGGGTCCACTCCTGGATAGGGAACACGGGTGGGTGGCGGTGCCTGCACCCTGGGCCTCTAGGCAGGGCAGCTGGGAAGACACAGCGTCGCCTCCACCGCCCTGGTCACCTGCCCGCCCTGTGAGTGACCACAGCTCCCCAGCCACTTCCAAGAGTGTGTTTATAAAAAAACAGCAACGGAGTACAGTGCTGACCCCACAGAGTCTTCCAGGCCAGCAGGAGCAGCAGGCCCCGATTCCCGGCTCCCTGTGGCCCAGGGTGCGTGAGTCTGGGACTCCTGGCCCTCCAGGCCCCTCCTCTCCCAGAGAGCCTGATGCAGCTTGTGGGCTGGACCCTGGAGCCCAGCTGCACCCTGGTGGGTCCCAGGCGGCTGAGCAGAGGGCTCGGACAGTGTGCGTCTGGCCTCGGGGTCCTCCCATCTGCTCCTGGGCCATCGGGGGCCTTGTGGCTCAGCCCACCAGCGGGCCACAGCCGCAAGCCTCATCTTTATCATCCCAGCTCCCAGAGGTGCCGTGGGCGCGAGTCCCTGCCCTCGAGCCCGGGGAGGGTCCAGCTGAGCCCCCTGCAGGGGACACCAGGGGCCTGTGTCTGAGGCCAGTGACAGAAGGGGCTTCCTGCTTCCCGGGCTGAGTGAGAGCTGGGGGAGCCGGACAGAGTGGTATTTGGAAGCCGGGAGGAGTCCCCTCTGCCCATCCTCCAGCCATCGGCTTCCACCTGCCCTCCCCAGGTCATGCCCTGCCGTGGTCTGGGCTACTGGGCCGGCTGCACGCCAGACCCCGCAGTGGCCCCGTTCTCCTGGGGGGTCTTGGAGATGTGGAGGAAGGTGGTCCTCATGGCCCGGTGGCAGGTGTCCACGAGCGCAGGGACGTCCGCCGCAGTGAGGCCGCTGGTGGGGATGGCTTCCGGCACCTGCACTGTGACTGTTCCTGTGGGGGAAGCAACAGACCTCAGTGGCCTGTGGGGAGCTGGGGCCCACCTCAGCCTGCTGCCCTGGCCTCGCCTCTCCCCAGCCCCCCACAGCCCCTCCCTGGGAAGCCCGAGGCCGGGCTCTTCCCCTGGACTCCCTAGCCGTGGTGGGTTATTTTAATTGCAGTAACGTTGCTGCAGTAAACCCCATGGCTGCCTGGCCTTCACGCCGCATTTTCGACAAGTCTGCGCTCCCCTGTTACTGCCCCCAGAAAGCCCCACTTCCTGATCAGCCCCTACCTCACTGCCTGGCCTCTGCCCTCCATACGGGGCGAGGGGCTGTGGGAGAGATGGAGCTGGGTTCCCCCACTGCTCTCCAACTTTGACCCCACTGTCCTGCCTGGGCACCAGGTGCCCACGTTCTGGGAACTGGCTGGAAGGGGCAAGAGGTCATGAGCCCCGCAGCCTGTGCCCCTGGGCTGCCTGGGTTCCATCTACCCTATGCGGGCATCAGCCTGGACACATGGGCTCAGAGGCCGCCCTCCAGGCCCCCAAGCTGTGTGCACAGCTGGGGTCCATCCGTGTGAAGTCTCTTGGAGCCTCAGTTTTCTCATCTGAAAAATGGGCCCAGCACCACCCATCTCACAGGGCCATGAGGCCATGAAGCCCACAGCTGGGACTCCAGCCTGAGTCACTCATTCGCCACATGGTCACCGTGTGGCCACGCCACGGGTGCCACCCGGAAATGGGAACGATGAGGGGCCCGGGGCTCCGTGACTGTAGGGTCAGGCGGGGCCTACACCCCGGGTGCACACATGTGGGGGTACCTGAAGTGAAGAACTTCTTCTTGGTGTTGTAGAAGGAGGAGAAGGAAGAGTACACCACGGGGACGATGGGCACCTGCAGGCAGGGAGACGCACAGCTGAGGCAGCCCTGGGGACAGGCCAGGCACACCCCAGGCTGCATGTGGTTGGGGAGCCCTGTCCTGCGGCCCACCCACCCCTGCCTTCGCTGCTGCCATGGGTCCTTGTGGCTGTCCTGCCCCTGGGACCTGGGATATGTGTCCTGCTCTGGTTGGCCCAGAGTTCCATAAGCTCATCCTGCAAATTTTTACTCATCTCCTCTAGGAAGCCCTCCTGAGCTAGCACGTGTTTGCCTGGTTCACACCTGTCCCCATATTGGGTCTGCAGCTAGCCAGGGGGGCAGGGCCCTGTCCGGTTTAGGAGGAGATTATGGCACTCTTCCCTGCCCACGCCTCTCTCCCAGTCCTCTCCATCTCAGGAAGCCAGTGAGGGAGGCAGCCCTAGCCCGGGGGAGGGGTGGAGCCTGCTGGTGTTCCTGGAAGTCACCGGGGTCAAATCCAAGGGCACTTGGGGGTGATCATTAACCCGAGGCAGCCAGGGAACCTCCAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGA
|
Task1_train_13575
|
The gene AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2) on Chromosome 9 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; Congenital generalized lipodystrophy type 1
|
AAGCTCATCCTGCAAATTTTTACTCATCTCCTCTAGGAAGCCCTCCTGAGCTAGCACGTGTTTGCCTGGTTCACACCTGTCCCCATATTGGGTCTGCAGCTAGCCAGGGGGGCAGGGCCCTGTCCGGTTTAGGAGGAGATTATGGCACTCTTCCCTGCCCACGCCTCTCTCCCAGTCCTCTCCATCTCAGGAAGCCAGTGAGGGAGGCAGCCCTAGCCCGGGGGAGGGGTGGAGCCTGCTGGTGTTCCTGGAAGTCACCGGGGTCAAATCCAAGGGCACTTGGGGGTGATCATTAACCCGAGGCAGCCAGGGAACCTCCAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGAGCGAGACCCCACCCAGATGGGTAAAAGCTCCTTCTCCTGACGCAACTCTTCCCAGCACAGCGGCAGAGGCAGGACAGGTGCTGGGGGAATGGCTATACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGCTCCCGCTTGGCGATCTGCACGCAGCGCTCCGGAAGGACCTCCATGAGGCCTGGGAGACAGAGAGACAGAGACAGAGAGAGAGGGGGAGACAGCGTGCGCTGGAAGACAGCTGCTGAGCACCCACAGGCCTGCCTGGCACCCTGCCTTCTCCCTGGCTACCTGGACGGGTCGTGTGGCCTCCGAGCCTCTGTGTCTGGCCCTGAGGGAGGTACTGAGGCCGAGCTCGCCCAGGCACAGGCAGCCCTGTGTCCTCGTCCCCGGGACCCAGCCCCACACAGCCCCAGCTCAGCCGGCCCCACTCAAACCCCAGAAGCCACCCCCGAGGCCCGGCCTACCCATCATGTCCAGGATGCTCTGGTGGTTGGAGACGATGACACAGGGACGGGCCTCCTGCAGCCTGCGCGGGTCCCGCACCTCGAAGCGGAGCCCGTAAAAGTACTTGAAGCTTCGCACGAACCAGCCGATGATGCTGCAGGGGAGGCCACCATGAACACGGGTCCCACAGATCCCGCAGCCGAGGCTGGGGCGCGAAGGCCTGGGGGTGGGGTGTGGAGGAGGCTGGGGAGGGGCCCTCCTGGCACGGGGCAGGAGACCGGGAGACACAGGGGAGGGAGCCCCTGAAGCGGACAGAGTCCCGGGCCCGGCTCACCCACCTGGACGGCTGCCCTGCCTCCGTCTCCCCAGCAACAGAGGAAAACCCAGAGCCTCTGGAACTCGGATGCTAGGAGCATGGGAAGGCGCCCACTTCCAAATCCACATCCAGGGCCCACCCAGCCCTCATCCACCCCACAGGGGACCCAGCCGGAAAGGAACTGGCACTGGCTCTCACGTCCGCTATGAAGGACCCACGTCGGGGAGAGCAGCCTCTGCACCCCAGCAGAGGAAATGGGGCCCCACACACCCTGGGGAAGGTCACTGGCCCCTCAAGGCAGGGCCACATCAGGAAGAAAGTGTCGGCGCCAGTGGAGACCTCTGAAACGACCTCCGAAAGGTTCTTCCAGAAAAGAGCCGAGACCGAGACCCTCTCTCACCCCTACCCTACAGAATCAGGCCGGTTCCCTTTCCCCGTGAAGAGGCGGCGAGGGGCTCGGGGCTTGTCTGAGGTCACACCAGGAGCAGCAGCAGAGCCAGGGTCTGGGCCACCTGAGCCCTGGCCACAGCAGCCCCCACTCTGGCAGGGGCCCAGCCCACTGGGGGCTGCCCTTGGAGCACCTGCAAATGTGAGGTGGCCTTGTCCAAGCAGCCCGTCATGGTTGGGACCAGGGATGTCCAAGGGGTACCCGAAGACTCTGACCAGCTCCGAGCGTCCCAACCTCTGCCCTGCTGTGCTGCCAGGAAGCTCTGGGCACACCCCAGATAGGGCACCCCATCACAGGGCAGCCGGCGGGGATGGAGCCAGGAGGACGGAGCTCCACTCCGAAGCTCCAGCAGGGGTGGATGGCCGGGGCAAGGCTGTGCCAGCGCTGACTGGGGGGCTGCCAGTGCTGCTCCCCTCTCCATGCAGACTAGTGCCCCCCACCATTTGATCCCCCAGCAGTCCTAAGGGCCCCACACTTTCTACAGATGAGTCTGAGTAACTGCCCCAGGCCACAGAGCAGAGATTCAAAGCCGGGGCCTTCTCTCAAAGCCATACTGGTGGGGATTTTTGTTGTTTTAACAGGGTCTTGCTCTGTCACCCAGGCTCCCCTTGCTCTGTCTTGCTCTGTGACACAATGTGTCACATTGTGCAGTGTCACAATCTGGGCTCACTCCAGCCTCCACCTCCTGGGCTCCTCCCACCTCAGGCTCCTGACTAGCTGGGACCACAGACGTGAGCCACCACACCTCGCTAGTTTTTGTATTTTTGGTACAGATGGGCTTTCACCATCTCTGGCCAGGCTGGTCTCGAACTCCTAGGCTCAAACAACCTGCCGACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCCTGAGCCAACTCGCCCGGCCTTTAAAAAAAAATTGTGGTAAAATACACGTAACATAAAATG
|
AAGCTCATCCTGCAAATTTTTACTCATCTCCTCTAGGAAGCCCTCCTGAGCTAGCACGTGTTTGCCTGGTTCACACCTGTCCCCATATTGGGTCTGCAGCTAGCCAGGGGGGCAGGGCCCTGTCCGGTTTAGGAGGAGATTATGGCACTCTTCCCTGCCCACGCCTCTCTCCCAGTCCTCTCCATCTCAGGAAGCCAGTGAGGGAGGCAGCCCTAGCCCGGGGGAGGGGTGGAGCCTGCTGGTGTTCCTGGAAGTCACCGGGGTCAAATCCAAGGGCACTTGGGGGTGATCATTAACCCGAGGCAGCCAGGGAACCTCCAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGAGCGAGACCCCACCCAGATGGGTAAAAGCTCCTTCTCCTGACGCAACTCTTCCCAGCACAGCGGCAGAGGCAGGACAGGTGCTGGGGGAATGGCTATACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCTGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGCTCCCGCTTGGCGATCTGCACGCAGCGCTCCGGAAGGACCTCCATGAGGCCTGGGAGACAGAGAGACAGAGACAGAGAGAGAGGGGGAGACAGCGTGCGCTGGAAGACAGCTGCTGAGCACCCACAGGCCTGCCTGGCACCCTGCCTTCTCCCTGGCTACCTGGACGGGTCGTGTGGCCTCCGAGCCTCTGTGTCTGGCCCTGAGGGAGGTACTGAGGCCGAGCTCGCCCAGGCACAGGCAGCCCTGTGTCCTCGTCCCCGGGACCCAGCCCCACACAGCCCCAGCTCAGCCGGCCCCACTCAAACCCCAGAAGCCACCCCCGAGGCCCGGCCTACCCATCATGTCCAGGATGCTCTGGTGGTTGGAGACGATGACACAGGGACGGGCCTCCTGCAGCCTGCGCGGGTCCCGCACCTCGAAGCGGAGCCCGTAAAAGTACTTGAAGCTTCGCACGAACCAGCCGATGATGCTGCAGGGGAGGCCACCATGAACACGGGTCCCACAGATCCCGCAGCCGAGGCTGGGGCGCGAAGGCCTGGGGGTGGGGTGTGGAGGAGGCTGGGGAGGGGCCCTCCTGGCACGGGGCAGGAGACCGGGAGACACAGGGGAGGGAGCCCCTGAAGCGGACAGAGTCCCGGGCCCGGCTCACCCACCTGGACGGCTGCCCTGCCTCCGTCTCCCCAGCAACAGAGGAAAACCCAGAGCCTCTGGAACTCGGATGCTAGGAGCATGGGAAGGCGCCCACTTCCAAATCCACATCCAGGGCCCACCCAGCCCTCATCCACCCCACAGGGGACCCAGCCGGAAAGGAACTGGCACTGGCTCTCACGTCCGCTATGAAGGACCCACGTCGGGGAGAGCAGCCTCTGCACCCCAGCAGAGGAAATGGGGCCCCACACACCCTGGGGAAGGTCACTGGCCCCTCAAGGCAGGGCCACATCAGGAAGAAAGTGTCGGCGCCAGTGGAGACCTCTGAAACGACCTCCGAAAGGTTCTTCCAGAAAAGAGCCGAGACCGAGACCCTCTCTCACCCCTACCCTACAGAATCAGGCCGGTTCCCTTTCCCCGTGAAGAGGCGGCGAGGGGCTCGGGGCTTGTCTGAGGTCACACCAGGAGCAGCAGCAGAGCCAGGGTCTGGGCCACCTGAGCCCTGGCCACAGCAGCCCCCACTCTGGCAGGGGCCCAGCCCACTGGGGGCTGCCCTTGGAGCACCTGCAAATGTGAGGTGGCCTTGTCCAAGCAGCCCGTCATGGTTGGGACCAGGGATGTCCAAGGGGTACCCGAAGACTCTGACCAGCTCCGAGCGTCCCAACCTCTGCCCTGCTGTGCTGCCAGGAAGCTCTGGGCACACCCCAGATAGGGCACCCCATCACAGGGCAGCCGGCGGGGATGGAGCCAGGAGGACGGAGCTCCACTCCGAAGCTCCAGCAGGGGTGGATGGCCGGGGCAAGGCTGTGCCAGCGCTGACTGGGGGGCTGCCAGTGCTGCTCCCCTCTCCATGCAGACTAGTGCCCCCCACCATTTGATCCCCCAGCAGTCCTAAGGGCCCCACACTTTCTACAGATGAGTCTGAGTAACTGCCCCAGGCCACAGAGCAGAGATTCAAAGCCGGGGCCTTCTCTCAAAGCCATACTGGTGGGGATTTTTGTTGTTTTAACAGGGTCTTGCTCTGTCACCCAGGCTCCCCTTGCTCTGTCTTGCTCTGTGACACAATGTGTCACATTGTGCAGTGTCACAATCTGGGCTCACTCCAGCCTCCACCTCCTGGGCTCCTCCCACCTCAGGCTCCTGACTAGCTGGGACCACAGACGTGAGCCACCACACCTCGCTAGTTTTTGTATTTTTGGTACAGATGGGCTTTCACCATCTCTGGCCAGGCTGGTCTCGAACTCCTAGGCTCAAACAACCTGCCGACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCCTGAGCCAACTCGCCCGGCCTTTAAAAAAAAATTGTGGTAAAATACACGTAACATAAAATG
|
Task1_train_13576
|
This is a variant in AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; Congenital generalized lipodystrophy
|
TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGAGCGAGACCCCACCCAGATGGGTAAAAGCTCCTTCTCCTGACGCAACTCTTCCCAGCACAGCGGCAGAGGCAGGACAGGTGCTGGGGGAATGGCTATACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGCTCCCGCTTGGCGATCTGCACGCAGCGCTCCGGAAGGACCTCCATGAGGCCTGGGAGACAGAGAGACAGAGACAGAGAGAGAGGGGGAGACAGCGTGCGCTGGAAGACAGCTGCTGAGCACCCACAGGCCTGCCTGGCACCCTGCCTTCTCCCTGGCTACCTGGACGGGTCGTGTGGCCTCCGAGCCTCTGTGTCTGGCCCTGAGGGAGGTACTGAGGCCGAGCTCGCCCAGGCACAGGCAGCCCTGTGTCCTCGTCCCCGGGACCCAGCCCCACACAGCCCCAGCTCAGCCGGCCCCACTCAAACCCCAGAAGCCACCCCCGAGGCCCGGCCTACCCATCATGTCCAGGATGCTCTGGTGGTTGGAGACGATGACACAGGGACGGGCCTCCTGCAGCCTGCGCGGGTCCCGCACCTCGAAGCGGAGCCCGTAAAAGTACTTGAAGCTTCGCACGAACCAGCCGATGATGCTGCAGGGGAGGCCACCATGAACACGGGTCCCACAGATCCCGCAGCCGAGGCTGGGGCGCGAAGGCCTGGGGGTGGGGTGTGGAGGAGGCTGGGGAGGGGCCCTCCTGGCACGGGGCAGGAGACCGGGAGACACAGGGGAGGGAGCCCCTGAAGCGGACAGAGTCCCGGGCCCGGCTCACCCACCTGGACGGCTGCCCTGCCTCCGTCTCCCCAGCAACAGAGGAAAACCCAGAGCCTCTGGAACTCGGATGCTAGGAGCATGGGAAGGCGCCCACTTCCAAATCCACATCCAGGGCCCACCCAGCCCTCATCCACCCCACAGGGGACCCAGCCGGAAAGGAACTGGCACTGGCTCTCACGTCCGCTATGAAGGACCCACGTCGGGGAGAGCAGCCTCTGCACCCCAGCAGAGGAAATGGGGCCCCACACACCCTGGGGAAGGTCACTGGCCCCTCAAGGCAGGGCCACATCAGGAAGAAAGTGTCGGCGCCAGTGGAGACCTCTGAAACGACCTCCGAAAGGTTCTTCCAGAAAAGAGCCGAGACCGAGACCCTCTCTCACCCCTACCCTACAGAATCAGGCCGGTTCCCTTTCCCCGTGAAGAGGCGGCGAGGGGCTCGGGGCTTGTCTGAGGTCACACCAGGAGCAGCAGCAGAGCCAGGGTCTGGGCCACCTGAGCCCTGGCCACAGCAGCCCCCACTCTGGCAGGGGCCCAGCCCACTGGGGGCTGCCCTTGGAGCACCTGCAAATGTGAGGTGGCCTTGTCCAAGCAGCCCGTCATGGTTGGGACCAGGGATGTCCAAGGGGTACCCGAAGACTCTGACCAGCTCCGAGCGTCCCAACCTCTGCCCTGCTGTGCTGCCAGGAAGCTCTGGGCACACCCCAGATAGGGCACCCCATCACAGGGCAGCCGGCGGGGATGGAGCCAGGAGGACGGAGCTCCACTCCGAAGCTCCAGCAGGGGTGGATGGCCGGGGCAAGGCTGTGCCAGCGCTGACTGGGGGGCTGCCAGTGCTGCTCCCCTCTCCATGCAGACTAGTGCCCCCCACCATTTGATCCCCCAGCAGTCCTAAGGGCCCCACACTTTCTACAGATGAGTCTGAGTAACTGCCCCAGGCCACAGAGCAGAGATTCAAAGCCGGGGCCTTCTCTCAAAGCCATACTGGTGGGGATTTTTGTTGTTTTAACAGGGTCTTGCTCTGTCACCCAGGCTCCCCTTGCTCTGTCTTGCTCTGTGACACAATGTGTCACATTGTGCAGTGTCACAATCTGGGCTCACTCCAGCCTCCACCTCCTGGGCTCCTCCCACCTCAGGCTCCTGACTAGCTGGGACCACAGACGTGAGCCACCACACCTCGCTAGTTTTTGTATTTTTGGTACAGATGGGCTTTCACCATCTCTGGCCAGGCTGGTCTCGAACTCCTAGGCTCAAACAACCTGCCGACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCCTGAGCCAACTCGCCCGGCCTTTAAAAAAAAATTGTGGTAAAATACACGTAACATAAAATGTATCTCCTTGGCCTTTTCCGGGTGCACAGTTCATGGGCGCTGGGCACATTCGGTGTCTAGCAGCCATCTCCTCCCTCTATCTCCAGAACTCTCCACCTTCTCTGGCTGACGTCTGTTCCCATGCGACACAAACCCCTGTCCCCTCCCCAGCCCTGGCACTCTGCCCTTCCATGTGTGAGCCCAGGCCTGCGGCAGCACCACCTCAGGCTGATGGGGCAATGCTCATGACCCCCTGTTGCAGATGGGGAAACTGAGTCAAGGGGGGCCTAATGGTTAATTCTGGTGATGAGTCCAGCCGTCCGTCCCTGGACTTGGAAGCCTGGGGCCTCCTCAGATCTGCCTTCCTCAGCCAACTCTAGATATCTCCTCTCCAGGCCGC
|
TGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGAGCGAGACCCCACCCAGATGGGTAAAAGCTCCTTCTCCTGACGCAACTCTTCCCAGCACAGCGGCAGAGGCAGGACAGGTGCTGGGGGAATGGCTATACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGCTCCCGCTTGGCGATCTGCACGCAGCGCTCCGGAAGGACCTCCATGAGGCCTGGGAGACAGAGAGACAGAGACAGAGAGAGAGGGGGAGACAGCGTGCGCTGGAAGACAGCTGCTGAGCACCCACAGGCCTGCCTGGCACCCTGCCTTCTCCCTGGCTACCTGGACGGGTCGTGTGGCCTCCGAGCCTCTGTGTCTGGCCCTGAGGGAGGTACTGAGGCCGAGCTCGCCCAGGCACAGGCAGCCCTGTGTCCTCGTCCCCGGGACCCAGCCCCACACAGCCCCAGCTCAGCCGGCCCCACTCAAACCCCAGAAGCCACCCCCGAGGCCCGGCCTACCCACCATGTCCAGGATGCTCTGGTGGTTGGAGACGATGACACAGGGACGGGCCTCCTGCAGCCTGCGCGGGTCCCGCACCTCGAAGCGGAGCCCGTAAAAGTACTTGAAGCTTCGCACGAACCAGCCGATGATGCTGCAGGGGAGGCCACCATGAACACGGGTCCCACAGATCCCGCAGCCGAGGCTGGGGCGCGAAGGCCTGGGGGTGGGGTGTGGAGGAGGCTGGGGAGGGGCCCTCCTGGCACGGGGCAGGAGACCGGGAGACACAGGGGAGGGAGCCCCTGAAGCGGACAGAGTCCCGGGCCCGGCTCACCCACCTGGACGGCTGCCCTGCCTCCGTCTCCCCAGCAACAGAGGAAAACCCAGAGCCTCTGGAACTCGGATGCTAGGAGCATGGGAAGGCGCCCACTTCCAAATCCACATCCAGGGCCCACCCAGCCCTCATCCACCCCACAGGGGACCCAGCCGGAAAGGAACTGGCACTGGCTCTCACGTCCGCTATGAAGGACCCACGTCGGGGAGAGCAGCCTCTGCACCCCAGCAGAGGAAATGGGGCCCCACACACCCTGGGGAAGGTCACTGGCCCCTCAAGGCAGGGCCACATCAGGAAGAAAGTGTCGGCGCCAGTGGAGACCTCTGAAACGACCTCCGAAAGGTTCTTCCAGAAAAGAGCCGAGACCGAGACCCTCTCTCACCCCTACCCTACAGAATCAGGCCGGTTCCCTTTCCCCGTGAAGAGGCGGCGAGGGGCTCGGGGCTTGTCTGAGGTCACACCAGGAGCAGCAGCAGAGCCAGGGTCTGGGCCACCTGAGCCCTGGCCACAGCAGCCCCCACTCTGGCAGGGGCCCAGCCCACTGGGGGCTGCCCTTGGAGCACCTGCAAATGTGAGGTGGCCTTGTCCAAGCAGCCCGTCATGGTTGGGACCAGGGATGTCCAAGGGGTACCCGAAGACTCTGACCAGCTCCGAGCGTCCCAACCTCTGCCCTGCTGTGCTGCCAGGAAGCTCTGGGCACACCCCAGATAGGGCACCCCATCACAGGGCAGCCGGCGGGGATGGAGCCAGGAGGACGGAGCTCCACTCCGAAGCTCCAGCAGGGGTGGATGGCCGGGGCAAGGCTGTGCCAGCGCTGACTGGGGGGCTGCCAGTGCTGCTCCCCTCTCCATGCAGACTAGTGCCCCCCACCATTTGATCCCCCAGCAGTCCTAAGGGCCCCACACTTTCTACAGATGAGTCTGAGTAACTGCCCCAGGCCACAGAGCAGAGATTCAAAGCCGGGGCCTTCTCTCAAAGCCATACTGGTGGGGATTTTTGTTGTTTTAACAGGGTCTTGCTCTGTCACCCAGGCTCCCCTTGCTCTGTCTTGCTCTGTGACACAATGTGTCACATTGTGCAGTGTCACAATCTGGGCTCACTCCAGCCTCCACCTCCTGGGCTCCTCCCACCTCAGGCTCCTGACTAGCTGGGACCACAGACGTGAGCCACCACACCTCGCTAGTTTTTGTATTTTTGGTACAGATGGGCTTTCACCATCTCTGGCCAGGCTGGTCTCGAACTCCTAGGCTCAAACAACCTGCCGACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCCTGAGCCAACTCGCCCGGCCTTTAAAAAAAAATTGTGGTAAAATACACGTAACATAAAATGTATCTCCTTGGCCTTTTCCGGGTGCACAGTTCATGGGCGCTGGGCACATTCGGTGTCTAGCAGCCATCTCCTCCCTCTATCTCCAGAACTCTCCACCTTCTCTGGCTGACGTCTGTTCCCATGCGACACAAACCCCTGTCCCCTCCCCAGCCCTGGCACTCTGCCCTTCCATGTGTGAGCCCAGGCCTGCGGCAGCACCACCTCAGGCTGATGGGGCAATGCTCATGACCCCCTGTTGCAGATGGGGAAACTGAGTCAAGGGGGGCCTAATGGTTAATTCTGGTGATGAGTCCAGCCGTCCGTCCCTGGACTTGGAAGCCTGGGGCCTCCTCAGATCTGCCTTCCTCAGCCAACTCTAGATATCTCCTCTCCAGGCCGC
|
Task1_train_13577
|
Gene AGPAT2 (1-acylglycerol-3-phosphate O-acyltransferase 2), found on Chromosome 9, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Congenital generalized lipodystrophy type 1
|
AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGAGCGAGACCCCACCCAGATGGGTAAAAGCTCCTTCTCCTGACGCAACTCTTCCCAGCACAGCGGCAGAGGCAGGACAGGTGCTGGGGGAATGGCTATACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGCTCCCGCTTGGCGATCTGCACGCAGCGCTCCGGAAGGACCTCCATGAGGCCTGGGAGACAGAGAGACAGAGACAGAGAGAGAGGGGGAGACAGCGTGCGCTGGAAGACAGCTGCTGAGCACCCACAGGCCTGCCTGGCACCCTGCCTTCTCCCTGGCTACCTGGACGGGTCGTGTGGCCTCCGAGCCTCTGTGTCTGGCCCTGAGGGAGGTACTGAGGCCGAGCTCGCCCAGGCACAGGCAGCCCTGTGTCCTCGTCCCCGGGACCCAGCCCCACACAGCCCCAGCTCAGCCGGCCCCACTCAAACCCCAGAAGCCACCCCCGAGGCCCGGCCTACCCATCATGTCCAGGATGCTCTGGTGGTTGGAGACGATGACACAGGGACGGGCCTCCTGCAGCCTGCGCGGGTCCCGCACCTCGAAGCGGAGCCCGTAAAAGTACTTGAAGCTTCGCACGAACCAGCCGATGATGCTGCAGGGGAGGCCACCATGAACACGGGTCCCACAGATCCCGCAGCCGAGGCTGGGGCGCGAAGGCCTGGGGGTGGGGTGTGGAGGAGGCTGGGGAGGGGCCCTCCTGGCACGGGGCAGGAGACCGGGAGACACAGGGGAGGGAGCCCCTGAAGCGGACAGAGTCCCGGGCCCGGCTCACCCACCTGGACGGCTGCCCTGCCTCCGTCTCCCCAGCAACAGAGGAAAACCCAGAGCCTCTGGAACTCGGATGCTAGGAGCATGGGAAGGCGCCCACTTCCAAATCCACATCCAGGGCCCACCCAGCCCTCATCCACCCCACAGGGGACCCAGCCGGAAAGGAACTGGCACTGGCTCTCACGTCCGCTATGAAGGACCCACGTCGGGGAGAGCAGCCTCTGCACCCCAGCAGAGGAAATGGGGCCCCACACACCCTGGGGAAGGTCACTGGCCCCTCAAGGCAGGGCCACATCAGGAAGAAAGTGTCGGCGCCAGTGGAGACCTCTGAAACGACCTCCGAAAGGTTCTTCCAGAAAAGAGCCGAGACCGAGACCCTCTCTCACCCCTACCCTACAGAATCAGGCCGGTTCCCTTTCCCCGTGAAGAGGCGGCGAGGGGCTCGGGGCTTGTCTGAGGTCACACCAGGAGCAGCAGCAGAGCCAGGGTCTGGGCCACCTGAGCCCTGGCCACAGCAGCCCCCACTCTGGCAGGGGCCCAGCCCACTGGGGGCTGCCCTTGGAGCACCTGCAAATGTGAGGTGGCCTTGTCCAAGCAGCCCGTCATGGTTGGGACCAGGGATGTCCAAGGGGTACCCGAAGACTCTGACCAGCTCCGAGCGTCCCAACCTCTGCCCTGCTGTGCTGCCAGGAAGCTCTGGGCACACCCCAGATAGGGCACCCCATCACAGGGCAGCCGGCGGGGATGGAGCCAGGAGGACGGAGCTCCACTCCGAAGCTCCAGCAGGGGTGGATGGCCGGGGCAAGGCTGTGCCAGCGCTGACTGGGGGGCTGCCAGTGCTGCTCCCCTCTCCATGCAGACTAGTGCCCCCCACCATTTGATCCCCCAGCAGTCCTAAGGGCCCCACACTTTCTACAGATGAGTCTGAGTAACTGCCCCAGGCCACAGAGCAGAGATTCAAAGCCGGGGCCTTCTCTCAAAGCCATACTGGTGGGGATTTTTGTTGTTTTAACAGGGTCTTGCTCTGTCACCCAGGCTCCCCTTGCTCTGTCTTGCTCTGTGACACAATGTGTCACATTGTGCAGTGTCACAATCTGGGCTCACTCCAGCCTCCACCTCCTGGGCTCCTCCCACCTCAGGCTCCTGACTAGCTGGGACCACAGACGTGAGCCACCACACCTCGCTAGTTTTTGTATTTTTGGTACAGATGGGCTTTCACCATCTCTGGCCAGGCTGGTCTCGAACTCCTAGGCTCAAACAACCTGCCGACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCCTGAGCCAACTCGCCCGGCCTTTAAAAAAAAATTGTGGTAAAATACACGTAACATAAAATGTATCTCCTTGGCCTTTTCCGGGTGCACAGTTCATGGGCGCTGGGCACATTCGGTGTCTAGCAGCCATCTCCTCCCTCTATCTCCAGAACTCTCCACCTTCTCTGGCTGACGTCTGTTCCCATGCGACACAAACCCCTGTCCCCTCCCCAGCCCTGGCACTCTGCCCTTCCATGTGTGAGCCCAGGCCTGCGGCAGCACCACCTCAGGCTGATGGGGCAATGCTCATGACCCCCTGTTGCAGATGGGGAAACTGAGTCAAGGGGGGCCTAATGGTTAATTCTGGTGATGAGTCCAGCCGTCCGTCCCTGGACTTGGAAGCCTGGGGCCTCCTCAGATCTGCCTTCCTCAGCCAACTCTAGATATCTCCTCTCCAGGCCGCGCCGGCCACCGTCC
|
AGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGAAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGAGGCCAGCAGGTAGGCTGGGGACTGGGAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACTGGCAGCAGGGAGGGAGGGGGCCAGCAGGTAGGCTGGGGACCGGGAGCAGGGACGGAAAAGCTGTGGGTCTCCTGGCTGAAGCTGCACTGCGGCCACCCCCAGCCACCCCATCACAGCCGCCCGTCTCCCCTCTGCTCTCCCAGAGCTGATCCAGCCCTCACTCTGCCCCCAAAGGGAAGTGACATCAGCCCCAGGCTGGGCAGGTGTGCCCCGCACCTGGGCAGGGCTGGGATCAGAGCCCAAGGATGCTCACCCAGCCCAGCGCCTCCGGGGCTCCCCAGGCCTCACGGCCTTAGCTGGGAGCCTCTGGAAGGAGGGCCCCCTCCCCACCACCTTGCACAGGGCCAGGCACTGGGGGCCACTAGTGGCCAGTGTGAGGGAAGGAGCTGAGACCCCTGCCCTGAGCGAGACCCCACCCAGATGGGTAAAAGCTCCTTCTCCTGACGCAACTCTTCCCAGCACAGCGGCAGAGGCAGGACAGGTGCTGGGGGAATGGCTATACCCTGGCCTCTCCCAGACACCCTAGGATGCACTGCACCCCTGGAGGCTGGGGACCAGGAAGTCCAGAGTCTGGAGGCGCTGCTTACAATGAGCTCCACCCACCCTGAGCTCTGGTCTGGCCTGATACTACACCAAAAGCCTGGCTTGTCCAGACCCACTGCCCATGCCCTGAAGCCCACCCCAGCCAGGCACAGGCCCAGAAATGAGCCTCCTGAGAGCTCTGCAGCAGAGGCGAGCGGCCCGGCTCCCCACCCCTCTACCTGCCCAGCCTCGCAGGCCAAGCACTGGGTGCCCACCAAGGGCAGCTGGTCACTCTGGGCTCTGTGTGGGCAAAAGGCCCAAGGGGCTGCCCTCCCTGGTCGGTCAGGGGGCAAGTGCAGGAAGGGGCAAGGAGGCCCTGTCCCCAACTCAGTGGGAGGAGTCCCTTGTGTGTCAAGGGTCCTCAGCTCGGCTGGTGGTCACCTGCTGCCTTAAGCCAGCCTGACCCCGCCTCCCCAGCCTGCACCCACCCAGGGAGGGCTGGGCTCAGCCTACCTGTGCCTGGACTGCCAGGTAGAAGGCGCCCTTCTTAAAAGGCAGCAGGTCCCCATTGTCGTTGCGAGTACCCTCGGGATAGATCCACACTTTGAGCTGCAGGGAGAGGAGAGCCTGGACTGACCTCACGCCCAGGCCACCCCAGAAAGGCCACGCCGCCTCGCCTCCTAAGAAGCCCCACTTCGCAAAGCAGCTGGCATGGGACCCCATCTGCGGAGCATGGATGATGTAGGGGTCTGGCGTGGGACCCCACCTGCGGAGCATGGATGATGTGGGGGTCTTGTTTTTTCTGCCAAAACCAAGTCACAAGCTGGCCCCTGCCTGGCCCCGCCCAGGCCCCACCCCAACCCCACCGAGCCCGGCCCTGCACACTCACGTTCTCCCTGACCATGCGCTCGCCCAGGTCGGCCATCACTGTCATGGCAGTGCTAGAGCGCTGCCGGTTGATGAAGAAGACGCCCCCGAGGTACATGATGAGGCCCACGGGCCCCAGGAAGAGCAGCTCCCGCTTGGCGATCTGCACGCAGCGCTCCGGAAGGACCTCCATGAGGCCTGGGAGACAGAGAGACAGAGACAGAGAGAGAGGGGGAGACAGCGTGCGCTGGAAGACAGCTGCTGAGCACCCACAGGCCTGCCTGGCACCCTGCCTTCTCCCTGGCTACCTGGACGGGTCGTGTGGCCTCCGAGCCTCTGTGTCTGGCCCTGAGGGAGGTACTGAGGCCGAGCTCGCCCAGGCACAGGCAGCCCTGTGTCCTCGTCCCCGGGACCCAGCCCCACACAGCCCCAGCTCAGCCGGCCCCACTCAAACCCCAGAAGCCACCCCCGAGGCCCGGCCTACCCATCATGTCCAGGATGTTCTGGTGGTTGGAGACGATGACACAGGGACGGGCCTCCTGCAGCCTGCGCGGGTCCCGCACCTCGAAGCGGAGCCCGTAAAAGTACTTGAAGCTTCGCACGAACCAGCCGATGATGCTGCAGGGGAGGCCACCATGAACACGGGTCCCACAGATCCCGCAGCCGAGGCTGGGGCGCGAAGGCCTGGGGGTGGGGTGTGGAGGAGGCTGGGGAGGGGCCCTCCTGGCACGGGGCAGGAGACCGGGAGACACAGGGGAGGGAGCCCCTGAAGCGGACAGAGTCCCGGGCCCGGCTCACCCACCTGGACGGCTGCCCTGCCTCCGTCTCCCCAGCAACAGAGGAAAACCCAGAGCCTCTGGAACTCGGATGCTAGGAGCATGGGAAGGCGCCCACTTCCAAATCCACATCCAGGGCCCACCCAGCCCTCATCCACCCCACAGGGGACCCAGCCGGAAAGGAACTGGCACTGGCTCTCACGTCCGCTATGAAGGACCCACGTCGGGGAGAGCAGCCTCTGCACCCCAGCAGAGGAAATGGGGCCCCACACACCCTGGGGAAGGTCACTGGCCCCTCAAGGCAGGGCCACATCAGGAAGAAAGTGTCGGCGCCAGTGGAGACCTCTGAAACGACCTCCGAAAGGTTCTTCCAGAAAAGAGCCGAGACCGAGACCCTCTCTCACCCCTACCCTACAGAATCAGGCCGGTTCCCTTTCCCCGTGAAGAGGCGGCGAGGGGCTCGGGGCTTGTCTGAGGTCACACCAGGAGCAGCAGCAGAGCCAGGGTCTGGGCCACCTGAGCCCTGGCCACAGCAGCCCCCACTCTGGCAGGGGCCCAGCCCACTGGGGGCTGCCCTTGGAGCACCTGCAAATGTGAGGTGGCCTTGTCCAAGCAGCCCGTCATGGTTGGGACCAGGGATGTCCAAGGGGTACCCGAAGACTCTGACCAGCTCCGAGCGTCCCAACCTCTGCCCTGCTGTGCTGCCAGGAAGCTCTGGGCACACCCCAGATAGGGCACCCCATCACAGGGCAGCCGGCGGGGATGGAGCCAGGAGGACGGAGCTCCACTCCGAAGCTCCAGCAGGGGTGGATGGCCGGGGCAAGGCTGTGCCAGCGCTGACTGGGGGGCTGCCAGTGCTGCTCCCCTCTCCATGCAGACTAGTGCCCCCCACCATTTGATCCCCCAGCAGTCCTAAGGGCCCCACACTTTCTACAGATGAGTCTGAGTAACTGCCCCAGGCCACAGAGCAGAGATTCAAAGCCGGGGCCTTCTCTCAAAGCCATACTGGTGGGGATTTTTGTTGTTTTAACAGGGTCTTGCTCTGTCACCCAGGCTCCCCTTGCTCTGTCTTGCTCTGTGACACAATGTGTCACATTGTGCAGTGTCACAATCTGGGCTCACTCCAGCCTCCACCTCCTGGGCTCCTCCCACCTCAGGCTCCTGACTAGCTGGGACCACAGACGTGAGCCACCACACCTCGCTAGTTTTTGTATTTTTGGTACAGATGGGCTTTCACCATCTCTGGCCAGGCTGGTCTCGAACTCCTAGGCTCAAACAACCTGCCGACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCCTGAGCCAACTCGCCCGGCCTTTAAAAAAAAATTGTGGTAAAATACACGTAACATAAAATGTATCTCCTTGGCCTTTTCCGGGTGCACAGTTCATGGGCGCTGGGCACATTCGGTGTCTAGCAGCCATCTCCTCCCTCTATCTCCAGAACTCTCCACCTTCTCTGGCTGACGTCTGTTCCCATGCGACACAAACCCCTGTCCCCTCCCCAGCCCTGGCACTCTGCCCTTCCATGTGTGAGCCCAGGCCTGCGGCAGCACCACCTCAGGCTGATGGGGCAATGCTCATGACCCCCTGTTGCAGATGGGGAAACTGAGTCAAGGGGGGCCTAATGGTTAATTCTGGTGATGAGTCCAGCCGTCCGTCCCTGGACTTGGAAGCCTGGGGCCTCCTCAGATCTGCCTTCCTCAGCCAACTCTAGATATCTCCTCTCCAGGCCGCGCCGGCCACCGTCC
|
Task1_train_13578
|
Chromosome 9 houses a mutation in gene MAN1B1 (mannosidase alpha class 1B member 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Inborn genetic diseases
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCTGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
Task1_train_13579
|
Here’s a variant in MAN1B1 (mannosidase alpha class 1B member 1) located on Chromosome 9. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; See cases
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCTGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
Task1_train_13580
|
A variant found in Chromosome 9 affects MAN1B1 (mannosidase alpha class 1B member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Rafiq syndrome
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCTGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
Task1_train_13581
|
This gene mutation involves MAN1B1 (mannosidase alpha class 1B member 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; MAN1B1-related disorder
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
GGCTGGTCTCAAACTTCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAGAGTACTGGGATTACAGGCGGGAGCCACCGTGCCCAGCCAAAAAAATTTAAAAAAAGGGAACGAAGGGACTGTAGCGCGTGTGCACAGTGCGATTCCCGTGGAGCACCTGAAGCCCACGTGGCAGAAGGAGCGTGTTTGAGTCGAGGATGTTCATCGCGAGGTCTGCACCCGTCCGTGTTTCACATTCTGAGTTGGCACCACACTCACCCACGTCTCCACAGGCTGTGCTCACTGTGCTGTCCCAGCGCCCTTGGGGCAGCCACCCTTGTCCCTTTGGCCAGAGGCCACCGAGGCCCAAGGAGGGTGTGCCTGCCCAGGCGCCAGGTGGAGGTGCATGGGCCCCAGTCAGGTGGTCGGGTGACAGGTGCCATCCTGTGCAGTCTCCAGAGGTCTCAGGCCCTTGGCAGGCTGTGTTCTCCCTGGGGGCTGCTGCAGCCTCTGTGGCCCTGGCCTTTGCTGTGCCCACCACCGCCCTTCCCGTCGTCCCAAACCCACCGTCATCTTTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCTGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTC
|
Task1_train_13582
|
A variant was discovered in gene MAN1B1 (mannosidase alpha class 1B member 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Rafiq syndrome
|
TTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCTCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGGTGTTGCAGGCGTGCAGGTCGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTTTCACGCTGTTGCAGACGTGCAGGTCAGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGGTGCAGGCATGCAGGTCGGTGGTGTTACACACAACGCTGTTGCAGGCGTGCAGGTCAGTGGTACACACATTCACGCTATTGCAGGCGTGCAGGCCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCGGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACA
|
TTGCCCCATGGGGGTCACAGCAGTGCTCTGCCTGAGGGTGTCCATCTGTGCCGACGCCAGGACCACGTCCGCCATGGCCTGTGCTCTCTCCCCCCTACTAGTGCATCTGAACTATCGCCAGAAGGGCGTGATTGACGTCTTCCTGCATGCATGGAAAGGATACCGCAAGTTTGCATGGGGCCATGACGAGCTGAAGCCTGTGTCCAGGTCCTTCAGTGAGTGGTTTGGCCTCGGTCTCACACTGATCGACGCGCTGGACACCATGTGGATCTTGGGTCTGAGGAAAGGTACCTGGTGCTTTCTGGGGAGGGGCTGAGCCCTCCGTGTGGGCCTCGTGTGCTGAGGCAGAGTGTGGGTTGCACACGGGGTGAAAGCTGCTGTTTGCATCTGACCATGGGTTTTCCCTTCTCCTGGGTGCGGGAGTGGACGTGTTGGCTGTGGTCAGTTCCTGTTCTTGTCCAGCCACCCAAGGCACACACAGGGCCGCTGTCCCCAGACCTCTGCAGGAGTTGAGTGTGGACTCTTTGGGGGACGTCCAAGGGACATTCCCAGGCTGTGCTTCTCTTGCAGCTGGGGGTGGTGGGATGAGTGACTGTGGGGCCCCGCTGGTCCCAGATCTCAGCAGCATCCTTCATAGACCAGCACATCCACTTTGAATTGGGAGTATGTGTCTTCGGTTATTTAAGCGATAATTTAAACATTTGCCTAATTTTTTGAATAGGTTGAAGACCACCAGTAAACGACGTGTGTAATTTTTTTGGGTCGTAGCCTTTGGTTGTGACCCATTGGTGGCCATAGCAACTGCACTGCTGACTCCGTTTTATTAACAAATGTTGACGACTTCAAGATTTACCCCCTTGAGATAGGAGGTGATATTGAAGCCCTGCAGGGGAACGATAACGCCCCAGACATGGGTTTGGTTTTTTGTTTTTGTTTTTTTGTTTTTGAGATGGAGTCTTTCACTGTCTCCTGGGCTGGAGTGCAATGGCGCAATCTCGGCTCATTGCAACCTTGGCCTCCTGGTTTCAAACGTGGGTTTTTTGGAGACAGAGTCTAGTGGTGTGGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGTTCACTGCAGCCTTCGCCTCCCGGGTTCAAGCTATTCTCATGCCTCACCCTCCCCAGTAGTTGGGACCACAGGCATGCGCCACCATACTCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTTCCCATGTTGTCCAGGCTGGTCTCTAACTCCTGGGCTCAAGCAATCCACTTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCAGCCAAATGTATTTTGAAGATGGATAGATAATAGGAAAACGTTGGAGCCATCCATTTGTCTCTGCATCCTTTACTGTTTTATGTCATAGAATTTGAGGAAGCCAGGAAGTGGGTGTCGAAGAAGTTACACTTTGAAAAGGACGTGGACGTCAACCTGTTTGAGAGCACGATCCGCATCCTGGGGGGGCTCCTGAGTGCCTACCACCTGTCTGGGGACAGCCTCTTCCTGAGGAAAGCTGTAAGTGTCTTGGGGTGTCCTGCAGGGAGATGGTGGACTCGCATTCAAGCAGTTACCCCTTTAGTGGACTTGTGGGGACGTGACTGTCTTCCTGTTTCCTCTTCAAATGCACTGGAGTCTGTTTCTGAGCTCATATTCGTGAGCTGATGAAGCCACTTTGATCACCACTGGCCTTGTAGAGACATTCACTCAGTGCAGAGTGATGCCCGTTTCCTTGCTGCTGTGTTGACCCCAGAGAGCCTTCAGTGTCTCCACTGAACTGCATGAAAGGGTGTAGACGAGGCCTCTGGGTGACCTGAACGTTGGTTCTCTACTCTGCTCATATACCAGGAGGATTTTGGAAATCGGCTAATGCCTGCCTTCAGAACACCATCCAAGATTCCTTACTCGGATGTGAACATCGGTACTGGAGTTGCCCACCCGCCACGGTGGACCTCCGACAGCACTGTGGCCGAGGTGACCAGCATTCAGCTGGAGTTCCGGGAGCTCCCCCGTCTCACAGGGGATAAGAAGTTTCAGGTAAGGGGGCAGGCTTTCTGGCTGGATGCGCCTCCCCTGGAGCTACCTTTTGCTCATCACAGCAGGTACTGTGTGTGTGTGTGTATGTGCATGTGTGTTTTCAGGTTTTTTACTGTGATAAAACACACAAAACGCACCACCTTAACCATTTCCAGGCGTGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTTGGGCTGTTGCAGGCGTACAGGTCAGTGGTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTTGGTGCTGTTACACACATGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGCTGTTACACACATTCCTGCTGTTGCAGGAGTACAGGTCGGTGGTGTTACACGTGCTGTTGCAGGTGTGCAGGTCGGTGGTGGTACACACATTCATGCTGTTGCAGGAGTATAGGTCGGTGGTGTTACACACATTCACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCAGACGTGCAGGTCAGTGCTGTTACACACGCTGTTGCAGGCGTGCAGGTTGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATTCTGTTGCAGGCGTGCAGGTCAGTGTTACACACATTCACGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACGCTGTTGCAGATGTGCAGGTCGGTGCTGTTACATTCACGCTGTTGCAAGCGTGCAGGTCGGTGGTGTTACATTCACGCTGTTGCTGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGACATGCAGGTCGGTGCTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCAGTGGTGTTACACACATTCACGCTGTTGCAGGCATGCAGGTCGGTGGTGTTACACACATTCACGCTTTTGCAGGCGTGCAGGTCGGTGGTCTTACATTCATACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTACACACATTCACACTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACACATTCATGGTGTTGCAGGCGTGCAGGTCGGTGTTACACACATGCTGTTGCAGGCGTGCAGGTCGGTGGTACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACACATTTTCACGCTGTTGCAGACGTGCAGGTCAGTGGTGTTACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGGTGTTACATTCACGCTGGTGCAGGCATGCAGGTCGGTGGTGTTACACACAACGCTGTTGCAGGCGTGCAGGTCAGTGGTACACACATTCACGCTATTGCAGGCGTGCAGGCCGGTGGTGTTACATTCACGCTGTTGCAGGCGTGCAGGTTGGTGTTACACACATTCACACTTGCAGGCGTGCGGGTCGGTGGTGTTACACACATTCATGCTGTTGCAGGCGTGCAGGTCGGTGTTACACACATTCACACTTGCAGGCGTGCAGGTCGGTGGTGTTACACACA
|
Task1_train_13583
|
Given a variant located on Chromosome 9 and affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGG
|
AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGAATCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGG
|
Task1_train_13584
|
This is a variant in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGG
|
AGCACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGAGTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGG
|
Task1_train_13585
|
This mutation is located in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; not provided
|
CACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCA
|
CACGTACACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTTGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCA
|
Task1_train_13586
|
A variant was discovered in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), Chromosome 9. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
ACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGT
|
ACACGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATTCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGT
|
Task1_train_13587
|
Located on Chromosome 9, this mutation impacts GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
CGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCA
|
CGGGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCATCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCA
|
Task1_train_13588
|
This variant affects the gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) found on Chromosome 9. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Intellectual disability
|
GGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAG
|
GGCAAGAGAAAGGAGCCAGAGACCTACATTCAAAGCCTGAGGGCTTCGGGACTGGGGGCCGGGACAGGCAGTGCGCCGGGATGAAGGGAGGCACGGGTGGGTGGCCCCACGGGTCCCAGGTCCTGTGCAGGTGCAGGGTCGGCTTTGTGGACATGCCCCTGTCCTCGTGGCACAGCAGGGTGGGGGTCAGCCTGCAGGCTGGGCTGTTTCTCACCCCAGGAAGATGCCTGGCATACACGGGACATCAGCGGCTCCTCTGCTGGAGGGAATCATGTCTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCGGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAG
|
Task1_train_13589
|
This sequence variant lies in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
CTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTC
|
CTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTTGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTC
|
Task1_train_13590
|
This variant impacts the gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; not provided
|
GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGA
|
GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCAGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGA
|
Task1_train_13591
|
Here is a variant affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGAT
|
TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGGTCTCCGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCACCACGCCCGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGTCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGAT
|
Task1_train_13592
|
This gene mutation involves GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) on Chromosome 9. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
TTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCT
|
TTTTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCTTGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCT
|
Task1_train_13593
|
This sequence change occurs on Chromosome 9, altering GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
TTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGG
|
TTTGTATTTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATAATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGG
|
Task1_train_13594
|
This is a variant in GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), located on Chromosome 9. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
|
TTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAG
|
TTTCAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCATGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAG
|
Task1_train_13595
|
With a mutation on Chromosome 9 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
CAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACC
|
CAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGTCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACC
|
Task1_train_13596
|
Given this context: Chromosome 9, gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; not provided
|
TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCG
|
TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCATCCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCG
|
Task1_train_13597
|
A variant was discovered on Chromosome 9, affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Intellectual disability, autosomal dominant 8
|
CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGG
|
CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAAGCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGG
|
Task1_train_13598
|
With a mutation on Chromosome 9 in gene GRIN1 (glutamate ionotropic receptor NMDA type subunit 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; not provided
|
TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCT
|
TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGTGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCT
|
Task1_train_13599
|
A variant was discovered on Chromosome 9, affecting GRIN1 (glutamate ionotropic receptor NMDA type subunit 1). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Inborn genetic diseases
|
TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGCCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCC
|
TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACAGCACCTGGCGGGGAATCATGTCTAAGCCAAGACTGGAGAAAAAGTGGCCAAGAGAAGGGTCCAGCTCTCCAGGAGTCTTTTCTGAGCCCCCAGCCCCCACCCCCCCGGGGCTGCAGGCAGACGATGCTGACGGTGGCTGGGGAGGACGTGTCCTGAACACTTGGGCTCGTGAAGAAGCTCCAGAGAGGGGCAGTGGCCGGCGGCGCAGGGCGGGGGGTGTGAGGGGTGCGTCGGGGATTAAGAGGGGCGCCAGGGGAGGCTGGGAGCTGAGAAGAGACTGCCGCCCTGGGCAGCCTTAGGTCGGTGGTCCAGGCTGGGTCTCCCCTTCCCCCCCAGATTGTGACGATCCACCAGGAGCCCTTCGTGTACGTCAAGCCCACGCTGAGTGATGGGACATGCAAGGAGGAGTTCACAGTCAACGGCGACCCAGTCAAGAAGGTGATCTGCACCGGGCCCAACGACACGTCGCCGGGCAGCCGTGAGTGCGCGGGGCAGGGCGCGGGGCGCGGGGCAGGGCGCGGGGCGTGGGGCGGTCTGGAGCCCAGCAGTTACCGCCCGCACCTACCCAGCCCGCCACACGGTGCCTCAGTGTTGCTACGGCTTTTGCATCGACCTGCTCATCAAGCTGGCACGGACCATGAACTTCACCTACGAGGTGCACCTGGTGGCAGATGGCAAGTTCGGCACACAGGAGCGGGTAGGCTGGACGGCGGGGGTGGGGACCAGCGTGAGAGGGGCCTGCAGGCGCGGTCGGAGTGGGTGGGGCATGGAGTAGGCGGGGCTTGCAGATGGTGGGGGGTCCTGGGGTGAGTGGGGCATGGAGTGAGCGGAGCCTGCGGGCTGGGTCCTGGCGTGGGTAAAGCATGGGGTGGGCGGGGCCTGAGGGCTGGGTGGGGCCTGACATGGGAGGGGCCTGACGTGGGGGTCGGAGTGGGTGGGGCACGGAGTGGGCAGGGCCTGCAGGCGGGGGTCTGGAGTGGGCGGGACGTGGAGTGGGCGGGGCCTGCTGGCTGTGGTGGGGCCCGCCCGGCGTGGGAGGGGTCTGCGAGCCAGGGCGGGGCTGGAGTGGGGTGGGGCCTGCGAGCTGGGTAGGGTCTTGGGGAGAAGACCCCCGGAGTGCTCTAGGGCGGCTTCAGTCGGGGGTACCTGTGGCGGGAGCTGGGAGGACGCTGCCTGCATGCCCGCCGGCTCTGTCGCCTCGCAGGTGAACAACAGCAACAAGAAGGAGTGGAATGGGATGATGGGCGAGCTGCTCAGCGGGCAGGCAGACATGATCGTGGCGCCGCTAACCATAAACAACGAGCGCGCGCAGTACATCGAGTTTTCCAAGCCCTTCAAGTACCAGGGCCTGACTATTCTGGTCAAGAAGGTGGGCAGGGGCCGGGTGGCGGGGTGGCGGCGGGGGGAGTCCCTGGAGGGCCCGGGCCGCGCTGACCTCGCGTCCCTCCGCAGGAGATTCCCCGGAGCACGCTGGACTCGTTCATGCAGCCGTTCCAGAGCACACTGTGGCTGCTGGTGGGGCTGTCGGTGCACGTGGTGGCCGTGATGCTGTACCTGCTGGACCGCTTCAGGTGAGCGCGACCCGGGGCTCAGACACCTCCATCTGCGGGGCGCGGAGCCGGCCAGGGGCGGGGCAGGGCCGCCTCTCCCGCCCTCTCTCCCGCCCGCCCTCTGCGCCCCGCAGCCCCTTCGGCCGGTTCAAGGTGAACAGCGAGGAGGAGGAGGAGGACGCACTGACCCTGTCCTCGGCCATGTGGTTCTCCTGGGGCGTCCTGCTCAACTCCGGCATCGGGGAAGGTAAGGCCCCGCCCGGCCCGCCTGGTCCCGCCTCGGCCCTCTAGGGTCTGACAGAGCCCCCCGCCCGCCCACAGGCGCCCCCAGAAGCTTCTCAGCGCGCATCCTGGGCATGGTGTGGGCCGGCTTTGCCATGATCATCGTGGCCTCCTACACCGCCAACCTGGCGGGCTTCCTGGTGCTGGACCGGCCGGAGGAGCGCATCACGGGCATCAACGACCCTCGGGTGAGGCCTGGCCGGGCTGGGGGAGGGAATGCGAGGTGAGCTGGGGTCGGCCTCGGTTAGGGGCCTGGGGAGCCGCCGCCGCGATCCCTGCCCTCCGACCCTGCAGCTGAGGAACCCCTCGGACAAGTTTATCTACGCCACGGTGAAGCAGAGCTCCGTGGATATCTACTTCCGGCGCCAGGTGGAGCTGAGCACCATGTACCGGCATATGGAGAAGCACAACTACGAGAGTGCGGCGGAGGCCATCCAGGCCGTGAGAGACAAGTGAGGCGCGGGCGGCCACCCTGGCGGGGCGGGACAGGTGCGGGGAGGGGGAGGGTGGCCTCCACCGGGCAGGAGAGCGTCCGGGCCGGGCACCCCGGAGGGCGCGGGCGTGGGGCTTCCAGGCTGGCAGGACCAAGGCCCCCGTGACTCCGCCTCTGCCGGCAGCAAGCTGCATGCCTTCATCTGGGACTCGGCGGTGCTGGAGTTCGAGGCCTCGCAGAAGTGCGACCTGGTGACGACTGGAGAGCTGTTTTTCCGCTCGGGCTTCGGCATAGGCATGCGCAAAGACAGCCCCTGGAAGCAGAACGTCTCCCTGTCCATCCTCAAGTGAGTGTCCGTGCGCCCGCGTCCCTCCTCCGCCCCTCTCCGCCAGAGGTGGACGCCCTCCCCAGTGCCAGACCACTCCGAGGCCACCACTGATTTCCCACCCAGGCCGGGCGCTGCCCACTCCACGCCGCACCCTACCCCGCAGGCCCCGCCCCGGCCCCGCCCCCAGCTTGCTCCTTCCCGTCCTGGGCCCCGCCTCACTGCAGGCTCACTTGTTCCCACCGCCAGGTCCCACGAGAATGGCTTCATGGAAGACCTGGACAAGACGTGGGTTCGGTATCAGGAATGTGACTCGCGCAGCAACGCCCCTGCGACCCTTACTTTTGAGAACATGGCCGGTGCGTTCTCCTTCATCCATTCTCGGGTGGGTTCTCCGTGGGCTGCGGCCTCCCTGGCCAGCAACTGAGGCTCTGGGTCCCGGCACACAGGGGTCTTCATGCTGGTAGCTGGGGGCATCGTGGCCGGGATCTTCCTGATTTTCATCGAGATTGCCTACAAGCGGCACAAGGATGCTCGCCGGAAGCAGATGCAGCTGGCCTTTGCCGCCGTTAACGTGTGGCGGAAGAACCTGCAGGTAGGGCAGGCCACCCTCCGAGGCCTGGTGCCCAGGGCCCGGCCTGGCCACGGCCCTCCTCCATCCCCGAAGGCCGTGGCACTGGCTCTGGCTCTGGTGGGCAGGACTGGAGCTAGGAGCCATGGCCAGGGGCAGTGGTGAGTGCTCCCAGGGCACGGGGGCAGCACCGGTGGGGGGCTGCCTGCAGGTGGCTGCCCACTGCAAAGCCGGGGCCGAGGGAGGCCACGCACCCTGCTCCAAGCCTCCGCCTGGCCCCTCTGTCTCCAGAGTCGCCCGCCGGTACCCATTCCATAGGAAGGCAATCAGGCAGGGTAAGACAGGGGCCCGCCTGTGTATGGCACGTGAGTCCAAGATGCATTTTGCCCTCCGCCGACCCAAGCCCCTTGACACCCTTCGGAGACCCCCCCCTTTCCTGCTATGTCCTTGTGCTCCGTGACTCTAATCCGAATTGGGCCAGGTCCGGTCCTGCCTGGTGCCCAGGTTGTATCCATGAGAATTTGCCACCAGCAAGGGCAGCCACGGCCCACCTGGGACAGGGTGGGCAGTGGGCCTGTACAGGCCTAAGGGCTCGTGGCCCGCGGTCGAGTTCCGGTTCACTCCGTCTCTTCTCTTTCTCTGGGTGCCGTCCTGGAGCCTGTGTCCTGAGATGAAGCCGACAGTGCGGCCAGGGCTGCTGGGGGATGGGGGTTGCTGGAGGCTCCACACCTCTCATCCGCCCGCTCTTGCTCTTGGCCCCCACAGGTCCCCTGGGGACCTGGCCGCTGCCAGCACTGGCGGGCACAGGCCACCTGGCCATCAGACCTGAGGCCAGAGTCCCGGGAGCTGCC
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.