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_22400
|
Here is a variant affecting ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; not provided
|
ATTCGTTATTTGGTTTGCAGCTGCAGGTTGGGTGCAGCTGGCAGACAGGCAGGCAGGGAGGAACTGAATTTGCTGAACACCCAACTGTATGTGCCAGGCTTTTCACACAGTGTCTCATTCATTGCAGAGTGAGCATTCGCGTCATTCATCAGTTAGTGGTGAGAACATCCAAGGCTCGGGGGATTCAGCAGCTGTCCTGAGTGCCACAGTAAGTGATAGAGCCTGGATTTAAACCCATCTTTGCTTGACTCTAAAGCTTGAGACAGAAACAGCCCATCCTCGGAGTCAAGTGAACTTAGAGAAGACCTAGGACAATTGTCGGGGACAGTGGTAGCCATGGGTTTTGTTGTTTGTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCGCTGCAACCTCTGCCTCCCGGGCTCAAGCAATCCTCCCGCCTCATCCTCCCAAGAAGCTGGGATTACAAGCATGCGCCACCACACTGGCTAAATTTTTGTATTTTTAGTAGACGGAGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGTGATTAGATGTGTGAGCCACCATGCCTAGCCCTAGCCATGGTTTTTATCTGACTACCATGTTTTCTACTTCTGGTTTCCTGTGGGAAAGGGCTGGGTTGGGGTGCTGTCAATCATGGGACCTGATCAGAGAGGTGGTCACATGATGCAGCCTAGTGTATCAGAATCTACTATCCATTCAGTTACTGTGACGAGTTCAGAGATGGACACATGATCCACAAAGGGCCAATCAGAACCTTCCCTGGGATTAATATATGACTACTGAGCTGAAGAAACGTTTTTTGCATGTTGAGTTGCTAAGGTGAGATGATATGATAGCTAGTGGCCATAAGACCTGCCCTGGAAAGAGAGCGTGTACAAAATTAGACCAGAGGTAAGCCAGTGGTTCCTAAACATTTGTGTACATCAGAATTACTTGGAGGGTTAATTAAAACCTAGATTCATGGGCCGACCCACATAGTATCTGAGGCAGTAGTCCTGGGCTGGGGCCTAAGAATGTACTTTGCTAACTAGTCCCCAGGTGATACTACTGCTGGTCCTGGGGTCACACTTTGAGAAGCACTGAGTGAAGATATGGAGAGAGTCACTGTGTCCTGATGACAACTGGGCCCATGCCCCCAAGGAAATATAAGCCATTAAATTCTATTCTTTTGGTTAAGCTAATTTTAGTTGGTTGCTGGTCCCAGCAATTGAAAGAATCTAGCTTCATATAATAGCCTTTGAGACCTTGCAATGCCTTTTTGGCTTCCAGATAATTGGAGAGGAAGAAATTACGGCAGGATAAAAACATTACGCGTGAAAGGCTCTGGCCCTTAATATTTAACTGTGCCGTGGGGCACAGGGGCTCATGCCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGAGGATCACTTGGGGCCAGGAATTCGAGACCAGCCTGGGCAACACAGGAAGACACTTGTCCTACAAAAATAAATTTAAAAATTAGCCAGTCATGGTGGCACGTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACCTGAACCCAGGAGTTCAAGGCTGCAGGGAGCTATGATCACCTATTGCACTTCAGCCTTGGCAGGAGAGCAAGATTCTGTCTCTCTAAAAAAAAGAACTTTGATGTGAACATTTAGAGACAGACACTAGTGGAGATACCAGAAAGACTGTAGTGTCCCTGTCCCTGGGAATTCTAGGAACAGCCCCTAGATGTCCAGCTGGGTGAAACCTCATATATGGAGTCTTCCCCAGAGACAGGGGACTGGCTGAGTTGACCTCAGCCGGTCCCGGAAGCCTCCCTGACCTCTCCGTACCTGAAACCCAGCGTAGAGGAGAAACAGTGGCAGGATGGCCACAGTGGCCAGTGGGGTAGCCACTGCCACCACCAGGCTGACCTCCAGGAGTCCAAAGGCGTACATCAGCAGGGACCGGAGTTTGTCTGGAATGTCCACGTCAACCGTGTCTGTCTCCTTGGAGAAGCGGTTTAGCAGGTGACCAATGGGTGTCCGCTCAAAGAAGCTGATGGGAGATCGCACCACATCCCACAGGAGCCTCTGGAAGAGCAACCTGGATGCCCGGGCCCCACCTAGGAGCACCGCAGCCATGGAGGCAAACAGCCCAATGGCTGGGGAGGGAGAGGAGGTAAGAGCATGAGGGCTGGAGACCCTCAGGAGCGGCCCACGGGGCCCTGCGCAGGTCTCTCCCGCTACCCCATGGTGGACATCTTATGGCTTGGCCACCCTGATTATTATATTTTTTTGAGACAGGGTCTCACTCTGTCACCCATGTTGAAGTGCAGTAGCATGATGATGGCTCAGTGCAGCCTTGACCTCCTGCACTCAAGCGATCCTCCCGCCTCACCCTCCGAGTAGCTGGGACCACAGGTGTACGCCACCATGCCGGCTAATTTGGGGTATTTTTGTAGAGATGGGATCTTGCTATGCTGTCCAGGCTGGTCTCGAACTCCTGGGATCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATGACAGGCATGAGCCACTGCGCCTGTACCCTGCTTGTTTCTTGATGTAATGGGTTGAAGAGTGTCCCCCAAAATTCATTTGGGATGGGTCCTAAATTCAGTGACTGCCATTTATATAAGAATACTAGAGGATACTCAGAGACACAGCAGGAGATATGAAGATGGCGACACAGATGGGAGGGTGTATCTACAAGCCAAGGAATGCCAGCGACTGCCGGCGACCACCAGAAACCAGGAGAGAAGCCTGGGGCGTATTCTCCATCAGAACCTCCACGAGGGGCCGGGCACAGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACACGGTGAAACCCTACTAAACCCTACTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAGTCAGGAGAAACACTGGAACCCAGGAGGCAGAGGTTGCAGTGAGCCATAAGCCGAGATCGTGCTACTGCACTCCAGCCTGGTTGACAGAGCAAGACTCCGTCTCAGAAAAAACAAACAAACAAACAAAAAAACCAAAAAAACCTCCACAAAGAGTTAACACTGCTGACACCTTGATTTTAGACTTCAGGCCTCAGAACTGCGACAGAACAAATTTCAATTGTGCTGGGCTCCCAAGTTTGTGGCAACTTGTTTGGCAGTAGCCCTGTGAGAGAAATGCACATCCTTCCTCCCAGTGCTAATCTGTATGCCTGGGGTGGGGCTAACTTCTCCTCTGGGGTGGGGCAAATTTCACCCATGGCCAATCCAAACCACTGCAGTTGGTTCAGGGATGAACACATAACCCAAGTCAGGCCAATGACAGGGAGACCTGGGACTTCACTAGAACTTTTGGAAAAGTGGTACTTGGTTGTTGGAGGTAGCCAAGCTGGAGCCGTGGAATATCATCTTACTGCCAGGGGGAGCAGCTAAGCTGGACAGGAAGCTGTCACAGAGGAGGGAAATAAAGCGATTTCTTGTTTGGACCCCTACATCCAGCCATACCTGAAGCCAGAAATCTAGGGATACTGGTCCCAAGAGCCAATCAATTCTCTTGTTGCTTAAACACTTTGAATTGGAGCTGAATTTGTTTATTTTCAGACGGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCACTGCAAACCCCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAAACACTGACACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTC
|
ATTCGTTATTTGGTTTGCAGCTGCAGGTTGGGTGCAGCTGGCAGACAGGCAGGCAGGGAGGAACTGAATTTGCTGAACACCCAACTGTATGTGCCAGGCTTTTCACACAGTGTCTCATTCATTGCAGAGTGAGCATTCGCGTCATTCATCAGTTAGTGGTGAGAACATCCAAGGCTCGGGGGATTCAGCAGCTGTCCTGAGTGCCACAGTAAGTGATAGAGCCTGGATTTAAACCCATCTTTGCTTGACTCTAAAGCTTGAGACAGAAACAGCCCATCCTCGGAGTCAAGTGAACTTAGAGAAGACCTAGGACAATTGTCGGGGACAGTGGTAGCCATGGGTTTTGTTGTTTGTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCAGCTCGCTGCAACCTCTGCCTCCCGGGCTCAAGCAATCCTCCCGCCTCATCCTCCCAAGAAGCTGGGATTACAAGCATGCGCCACCACACTGGCTAAATTTTTGTATTTTTAGTAGACGGAGTTTCACCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTGTGATTAGATGTGTGAGCCACCATGCCTAGCCCTAGCCATGGTTTTTATCTGACTACCATGTTTTCTACTTCTGGTTTCCTGTGGGAAAGGGCTGGGTTGGGGTGCTGTCAATCATGGGACCTGATCAGAGAGGTGGTCACATGATGCAGCCTAGTGTATCAGAATCTACTATCCATTCAGTTACTGTGACGAGTTCAGAGATGGACACATGATCCACAAAGGGCCAATCAGAACCTTCCCTGGGATTAATATATGACTACTGAGCTGAAGAAACGTTTTTTGCATGTTGAGTTGCTAAGGTGAGATGATATGATAGCTAGTGGCCATAAGACCTGCCCTGGAAAGAGAGCGTGTACAAAATTAGACCAGAGGTAAGCCAGTGGTTCCTAAACATTTGTGTACATCAGAATTACTTGGAGGGTTAATTAAAACCTAGATTCATGGGCCGACCCACATAGTATCTGAGGCAGTAGTCCTGGGCTGGGGCCTAAGAATGTACTTTGCTAACTAGTCCCCAGGTGATACTACTGCTGGTCCTGGGGTCACACTTTGAGAAGCACTGAGTGAAGATATGGAGAGAGTCACTGTGTCCTGATGACAACTGGGCCCATGCCCCCAAGGAAATATAAGCCATTAAATTCTATTCTTTTGGTTAAGCTAATTTTAGTTGGTTGCTGGTCCCAGCAATTGAAAGAATCTAGCTTCATATAATAGCCTTTGAGACCTTGCAATGCCTTTTTGGCTTCCAGATAATTGGAGAGGAAGAAATTACGGCAGGATAAAAACATTACGCGTGAAAGGCTCTGGCCCTTAATATTTAACTGTGCCGTGGGGCACAGGGGCTCATGCCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGGAGGATCACTTGGGGCCAGGAATTCGAGACCAGCCTGGGCAACACAGGAAGACACTTGTCCTACAAAAATAAATTTAAAAATTAGCCAGTCATGGTGGCACGTGCCTGTAGTCCCAGCTACTTGAGAGGCTGAGGTAGGAGGATCACCTGAACCCAGGAGTTCAAGGCTGCAGGGAGCTATGATCACCTATTGCACTTCAGCCTTGGCAGGAGAGCAAGATTCTGTCTCTCTAAAAAAAAGAACTTTGATGTGAACATTTAGAGACAGACACTAGTGGAGATACCAGAAAGACTGTAGTGTCCCTGTCCCTGGGAATTCTAGGAACAGCCCCTAGATGTCCAGCTGGGTGAAACCTCATATATGGAGTCTTCCCCAGAGACAGGGGACTGGCTGAGTTGACCTCAGCCGGTCCCGGAAGCCTCCCTGACCTCTCCGTACCTGAAACCCAGCGTAGAGGAGAAACAGTGGCAGGATGGCCACAGTGGCCAGTGGGGTAGCCACTGCCACCACCAGGCTGACCTCCAGGAGTCCAAAGGCGTACATCAGCAGGGACCGGCGTTTGTCTGGAATGTCCACGTCAACCGTGTCTGTCTCCTTGGAGAAGCGGTTTAGCAGGTGACCAATGGGTGTCCGCTCAAAGAAGCTGATGGGAGATCGCACCACATCCCACAGGAGCCTCTGGAAGAGCAACCTGGATGCCCGGGCCCCACCTAGGAGCACCGCAGCCATGGAGGCAAACAGCCCAATGGCTGGGGAGGGAGAGGAGGTAAGAGCATGAGGGCTGGAGACCCTCAGGAGCGGCCCACGGGGCCCTGCGCAGGTCTCTCCCGCTACCCCATGGTGGACATCTTATGGCTTGGCCACCCTGATTATTATATTTTTTTGAGACAGGGTCTCACTCTGTCACCCATGTTGAAGTGCAGTAGCATGATGATGGCTCAGTGCAGCCTTGACCTCCTGCACTCAAGCGATCCTCCCGCCTCACCCTCCGAGTAGCTGGGACCACAGGTGTACGCCACCATGCCGGCTAATTTGGGGTATTTTTGTAGAGATGGGATCTTGCTATGCTGTCCAGGCTGGTCTCGAACTCCTGGGATCAAGTGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGAGATGACAGGCATGAGCCACTGCGCCTGTACCCTGCTTGTTTCTTGATGTAATGGGTTGAAGAGTGTCCCCCAAAATTCATTTGGGATGGGTCCTAAATTCAGTGACTGCCATTTATATAAGAATACTAGAGGATACTCAGAGACACAGCAGGAGATATGAAGATGGCGACACAGATGGGAGGGTGTATCTACAAGCCAAGGAATGCCAGCGACTGCCGGCGACCACCAGAAACCAGGAGAGAAGCCTGGGGCGTATTCTCCATCAGAACCTCCACGAGGGGCCGGGCACAGTGGCTCATGCCTGTAATCACAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGAGCAACACGGTGAAACCCTACTAAACCCTACTCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCTAGCTACTCAGGAGGCTGAGTCAGGAGAAACACTGGAACCCAGGAGGCAGAGGTTGCAGTGAGCCATAAGCCGAGATCGTGCTACTGCACTCCAGCCTGGTTGACAGAGCAAGACTCCGTCTCAGAAAAAACAAACAAACAAACAAAAAAACCAAAAAAACCTCCACAAAGAGTTAACACTGCTGACACCTTGATTTTAGACTTCAGGCCTCAGAACTGCGACAGAACAAATTTCAATTGTGCTGGGCTCCCAAGTTTGTGGCAACTTGTTTGGCAGTAGCCCTGTGAGAGAAATGCACATCCTTCCTCCCAGTGCTAATCTGTATGCCTGGGGTGGGGCTAACTTCTCCTCTGGGGTGGGGCAAATTTCACCCATGGCCAATCCAAACCACTGCAGTTGGTTCAGGGATGAACACATAACCCAAGTCAGGCCAATGACAGGGAGACCTGGGACTTCACTAGAACTTTTGGAAAAGTGGTACTTGGTTGTTGGAGGTAGCCAAGCTGGAGCCGTGGAATATCATCTTACTGCCAGGGGGAGCAGCTAAGCTGGACAGGAAGCTGTCACAGAGGAGGGAAATAAAGCGATTTCTTGTTTGGACCCCTACATCCAGCCATACCTGAAGCCAGAAATCTAGGGATACTGGTCCCAAGAGCCAATCAATTCTCTTGTTGCTTAAACACTTTGAATTGGAGCTGAATTTGTTTATTTTCAGACGGAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCACTGCAAACCCCACCTCCCAGGTTCAAGCGATTCTCCTTCCTCAGCCTCCCAAGTAGCTGGGATTACAAACACTGACACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTC
|
Task1_train_22401
|
Given this variant in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; not provided
|
ACACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTCTTTGTATTCGAGAGTCATAACCAATTTCTCTCTCTCAGCTCCCATCTCTCCATCTTTAGGGGAGAGTAAGACTTGCCCTTAGCTATCAAATGAGGGATGGAAGTGGAAGGATTTTGAAAGGGCTATTTGCCACCCAAATGAGGATTTGGGTTAATTCCAGGGCTCGGCTGACTCTGAGAATCCCTAATTTCCTCTTGGTTAAGTAACCATTCGCCTTGAGTATTCCACTGTACATGCAGTTGTGGTGAGTAGGTGTACAGGTTCTTAGGACTAGAAGAGTCCTCAAGTTCAGGCCTGGCGCCCCCTATTTTACAGGGGAGGTCACAGGCTCACAGCATTTTGGTGATGTGGCCAATGTCACCCAGTGAATGAGGACGAATCAACATGAAAACGAGGCAACTGTCCTTTAAAGATGAAGCCAGGCCGGGCGTGGTGGCTCATGCCTGTGATCCCAACACTTTGGGAGGTTGAGGCGGAGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACGGCGAAACCGTCTCTATCAAAAACAAAAATTAGCCAGCATGGTGGCATGTGCATGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCCGAGTTCGTGCCACTGCATTCCAGCCTGGGTGACAAAGCCAGACCCAGTCTATATATATGTGTGTGTGTGTATAAATAAGAAGCCAAACTCACATGTGCACTCCTGTTACTCCCTTCAGCCAGGCCACGTATTAAAAGGAGAAGAACCAGGGGTTGGGGACAGGGTGGGCGAGGCAGGAGAAGGGTGGGTGTGGTTGCAAAAGGGCAACACGAGAGCGCCTCGTGGTGAGGGGGTTGTTCAGTATCTCAACTGTCAACCATCGTGATGGATGCGAGAGACTGAACAGGGGATACGACTGCACAGAGGCAAACATGCGCACACCCACGTGCAAGCAAAACTGGGGAAATCACAATGAGATCCATAGGGCCGGGTGCGGGGGCTCACACCTGTAATCCCAACACTCTGGGAGGCCGAGGCGGGCAGATCATTTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCAGGCTGCACACTTGTAATCCCAGCTTCCAGCTACTCAGGAAGCTGAGGTAGGAGAACTGCTTGAACCTCGGAGATGGGGGTTGCAGTGAGCCGAGACGGCAGCACTGCCCTCCAGCCCGGGCAACAGAGCAAGACTCTGTCTCAAAATAAAATAAACAAATAAATAAATAAATAAATAATTGAGATCCATGGATTGATGGGTGTCAGGATCCTTTGTGTGATACTTTACTATCAGTTTGCAAAATATCACCAATGGGAGAAACTGGGCAGACTGTTCAAGGTAGCTGGCTGCCTTATTTCCTAGAACTGCATGTGAATCTACAATTATTTCAAGAAGAAGTCTTTCCATTTTTGAGGAGGAGAAGAAGGAGTGATAGCGGTGATGCATTTGTTAGGGAGGGTCTGGCTCTGTCTGGAGGTTTGGGGGCAGGCACTGAAAGCCACCAGCAGGCAGGCCTTGCAGACGCCTTCCGCTAGTGGGGAGGGACTGGGAGAGGTTCTGAAGCTTCCAGAAAAGGAGGGATGTGCCCTGTCCTTCCCGTTCCCTCCAGCCTCATCTTAAGGACGCAGATCTTTGCCTGGACCCCAGACGTTTTGCACACTGTTCCAGGGGGACAGGGTGACCCAGGGAGGGGTGGGGTAAAGGAGTCCTGAGCACCCCTTGGTGCAGCTGGGAGGAGAGGGATGAGGAGGGCAGGTGAGGCGTACCTTGGAGACAGCCGAGGAGCCCGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACTGCAGGGTCGTCCGCCCACAGGCTCAGCCAGTAGCCCCGGCAGAAGGAGGCCACTTGCTGGCAGAGGAAGAGGAAGAGTGCGTAGAGGCAGAGGGGGGTGCCCACGGCACGCAGGTAGGCCAGGTGCACTGTGGCCTTCACCTGTAGCACACATGAGGGAGAGGGAGGCAGAGAGAGCCCCCAGTGGGAGGGGTGGGTTGAGGCAAGGCCAGGCGAGGCTCCCAGAAAACATGCCCATGGCAGATGGGACCACCACGCAGACCTCACTGGTTCTCCCGCTGTGCCTCCCACCAGAAGCACCATTTCCCCGACAGGCCCCAGCCAGCCTTAGAACCCCCATCTCCTATACAATCCCCAGGGAGCTAGTATTAATATTTTTTCTTTTGTTTTTTTTTTGAGGACAGGGTCTTGCTTTGTCGCCCATGTCACCCAGGCTGGAGTACACTGGCATGATCATGGCTCACTGCAGCCTTGAACTCCTAGGCTCAAGTAATCCCCCCGCCTCAGCCTCCCGAGTAGTCAGGACTATAGGTTTGTACCACCATGTTTTGTTAATTTTCATAGTTTTAAAGAGATGGAATCTCGCTGTGTTGCCCAGGCTAGTCTCAGACTCCTGGCCTCAAGTGATCCTCCCTCCTCGGCCTTCCAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCCAGCTAGAAGGGTTTTCTTGAACACCCACCATAGGTCAGGCATGTGTCTCTCCTTATAACAACCTCCATTTCACAGATAAGGAAACTGAGGCACAGAGAGGTTCAGCCACTGGCTTAAGGTCCTGCTCCTACAAATCTGAAGTTCTCTGCACAGCTGCAGCCAGACGGGACTGTTGAAAACATTAATCTAATTATATCTTGTCGTTGGCCTGTCCATGGCTATCTCTTGCTCTTAGAAGAAATCCCAGCCAGGAGGGGTGGCTCATACCTGTAAGCACTTTGGGAGGCCAAGGCGGGTGTGTCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGACCAACGTAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGAGAGGCTAAGGCAAGAGAATCGTTTGAAGCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCATTACACTCTTCTCTGGGCGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATTCCAAGCTTCTTATCTCGCCCCCACTCACTGCCTGCCAGCCTCATGGGACCCCTTTCTCTGGCACCCTAAGCTACTTCCCACCTCGGAGCCATTGCACCTGCTGCTCTCTCTGCCTGGAGCGCTCTTTCTCCTGCCCTTTGTATGACTGGTTCCTTCACACATTCTTTGGGGAAGCTCAAATGTCACTTCTCAGAGCATCCTGTCCATACCAACCATGGTAGGGTTTCTCAGTGGTCTCTATTTCATCATTCTTTCTTTTAAGAGGCAGGGTCTCACTCTGTCACCCAGGCTGGATTGCAGTGACATGATCATAGCTCACTGCAGCCTCGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCTGAAAGTGTTGGGATTACAGGCATGAGCCACTGCGCCTGATCATTCTTATTTTCTTTATAGCACTTATTGTTATTGGACATAGCTTACTTATTAGCATAATTATTTACTCTCCGTCTATCCTCACTAGTGTCTAATCTCTACCAGACTTAGCCTGGCACATAGTGGGTATTGTGTACATGTTTGCTGGATGGATGAGAGGGTAGGTGGGTGAATAAATGAGCGGGTGGGTAGGTAGGTAGGTGTGTGAATGAGTGGATGAATGGATGGAAAGATCAATGAATGGATGAACAGCTGAACAGACAGATGCATAGGTGAGGGAATGGTTGGATGTATTGTTAGGTGGGATAGATGGATGGGTAAGCGAATGGGATG
|
ACACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTCGCCAGGCTGATCTTGAACTCCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTATCTGGCCTGGAGCTGAATTTTTTATTCTTTGTATTCGAGAGTCATAACCAATTTCTCTCTCTCAGCTCCCATCTCTCCATCTTTAGGGGAGAGTAAGACTTGCCCTTAGCTATCAAATGAGGGATGGAAGTGGAAGGATTTTGAAAGGGCTATTTGCCACCCAAATGAGGATTTGGGTTAATTCCAGGGCTCGGCTGACTCTGAGAATCCCTAATTTCCTCTTGGTTAAGTAACCATTCGCCTTGAGTATTCCACTGTACATGCAGTTGTGGTGAGTAGGTGTACAGGTTCTTAGGACTAGAAGAGTCCTCAAGTTCAGGCCTGGCGCCCCCTATTTTACAGGGGAGGTCACAGGCTCACAGCATTTTGGTGATGTGGCCAATGTCACCCAGTGAATGAGGACGAATCAACATGAAAACGAGGCAACTGTCCTTTAAAGATGAAGCCAGGCCGGGCGTGGTGGCTCATGCCTGTGATCCCAACACTTTGGGAGGTTGAGGCGGAGGATTGCCTGAGCCCAGGAGTTTGAGACCAGCCTGGGCAACACGGCGAAACCGTCTCTATCAAAAACAAAAATTAGCCAGCATGGTGGCATGTGCATGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCCGAGTTCGTGCCACTGCATTCCAGCCTGGGTGACAAAGCCAGACCCAGTCTATATATATGTGTGTGTGTGTATAAATAAGAAGCCAAACTCACATGTGCACTCCTGTTACTCCCTTCAGCCAGGCCACGTATTAAAAGGAGAAGAACCAGGGGTTGGGGACAGGGTGGGCGAGGCAGGAGAAGGGTGGGTGTGGTTGCAAAAGGGCAACACGAGAGCGCCTCGTGGTGAGGGGGTTGTTCAGTATCTCAACTGTCAACCATCGTGATGGATGCGAGAGACTGAACAGGGGATACGACTGCACAGAGGCAAACATGCGCACACCCACGTGCAAGCAAAACTGGGGAAATCACAATGAGATCCATAGGGCCGGGTGCGGGGGCTCACACCTGTAATCCCAACACTCTGGGAGGCCGAGGCGGGCAGATCATTTGAGGTCAGGAGTTCGAGACCAGCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAACCAGGCTGCACACTTGTAATCCCAGCTTCCAGCTACTCAGGAAGCTGAGGTAGGAGAACTGCTTGAACCTCGGAGATGGGGGTTGCAGTGAGCCGAGACGGCAGCACTGCCCTCCAGCCCGGGCAACAGAGCAAGACTCTGTCTCAAAATAAAATAAACAAATAAATAAATAAATAAATAATTGAGATCCATGGATTGATGGGTGTCAGGATCCTTTGTGTGATACTTTACTATCAGTTTGCAAAATATCACCAATGGGAGAAACTGGGCAGACTGTTCAAGGTAGCTGGCTGCCTTATTTCCTAGAACTGCATGTGAATCTACAATTATTTCAAGAAGAAGTCTTTCCATTTTTGAGGAGGAGAAGAAGGAGTGATAGCGGTGATGCATTTGTTAGGGAGGGTCTGGCTCTGTCTGGAGGTTTGGGGGCAGGCACTGAAAGCCACCAGCAGGCAGGCCTTGCAGACGCCTTCCGCTAGTGGGGAGGGACTGGGAGAGGTTCTGAAGCTTCCAGAAAAGGAGGGATGTGCCCTGTCCTTCCCGTTCCCTCCAGCCTCATCTTAAGGACGCAGATCTTTGCCTGGACCCCAGACGTTTTGCACACTGTTCCAGGGGGACAGGGTGACCCAGGGAGGGGTGGGGTAAAGGAGTCCTGAGCACCCCTTGGTGCAGCTGGGAGGAGAGGGATGAGGAGGGCAGGTGAGGCGTACCTTGGAGACAGCCGAGGAGCCTGAAGATCCCGCCACGCAGGGCTGCCTGCGTCTGCTGCCCACCTACTGCAGGGTCGTCCGCCCACAGGCTCAGCCAGTAGCCCCGGCAGAAGGAGGCCACTTGCTGGCAGAGGAAGAGGAAGAGTGCGTAGAGGCAGAGGGGGGTGCCCACGGCACGCAGGTAGGCCAGGTGCACTGTGGCCTTCACCTGTAGCACACATGAGGGAGAGGGAGGCAGAGAGAGCCCCCAGTGGGAGGGGTGGGTTGAGGCAAGGCCAGGCGAGGCTCCCAGAAAACATGCCCATGGCAGATGGGACCACCACGCAGACCTCACTGGTTCTCCCGCTGTGCCTCCCACCAGAAGCACCATTTCCCCGACAGGCCCCAGCCAGCCTTAGAACCCCCATCTCCTATACAATCCCCAGGGAGCTAGTATTAATATTTTTTCTTTTGTTTTTTTTTTGAGGACAGGGTCTTGCTTTGTCGCCCATGTCACCCAGGCTGGAGTACACTGGCATGATCATGGCTCACTGCAGCCTTGAACTCCTAGGCTCAAGTAATCCCCCCGCCTCAGCCTCCCGAGTAGTCAGGACTATAGGTTTGTACCACCATGTTTTGTTAATTTTCATAGTTTTAAAGAGATGGAATCTCGCTGTGTTGCCCAGGCTAGTCTCAGACTCCTGGCCTCAAGTGATCCTCCCTCCTCGGCCTTCCAAAGTGCTTGGATTACAGGTGTGAGCCACCACACCCAGCTAGAAGGGTTTTCTTGAACACCCACCATAGGTCAGGCATGTGTCTCTCCTTATAACAACCTCCATTTCACAGATAAGGAAACTGAGGCACAGAGAGGTTCAGCCACTGGCTTAAGGTCCTGCTCCTACAAATCTGAAGTTCTCTGCACAGCTGCAGCCAGACGGGACTGTTGAAAACATTAATCTAATTATATCTTGTCGTTGGCCTGTCCATGGCTATCTCTTGCTCTTAGAAGAAATCCCAGCCAGGAGGGGTGGCTCATACCTGTAAGCACTTTGGGAGGCCAAGGCGGGTGTGTCACCTGAGCTCAGGAGTTTGAGACCAGCCTGGACCAACGTAGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGTGTGGTGGCAGGCACCTGTAGTCCCAGCTACTCGAGAGGCTAAGGCAAGAGAATCGTTTGAAGCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCATTACACTCTTCTCTGGGCGACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAATTCCAAGCTTCTTATCTCGCCCCCACTCACTGCCTGCCAGCCTCATGGGACCCCTTTCTCTGGCACCCTAAGCTACTTCCCACCTCGGAGCCATTGCACCTGCTGCTCTCTCTGCCTGGAGCGCTCTTTCTCCTGCCCTTTGTATGACTGGTTCCTTCACACATTCTTTGGGGAAGCTCAAATGTCACTTCTCAGAGCATCCTGTCCATACCAACCATGGTAGGGTTTCTCAGTGGTCTCTATTTCATCATTCTTTCTTTTAAGAGGCAGGGTCTCACTCTGTCACCCAGGCTGGATTGCAGTGACATGATCATAGCTCACTGCAGCCTCGAACTCCTGGCCTCAAGCAATCCTCCTGCCTCAGCCTCTGAAAGTGTTGGGATTACAGGCATGAGCCACTGCGCCTGATCATTCTTATTTTCTTTATAGCACTTATTGTTATTGGACATAGCTTACTTATTAGCATAATTATTTACTCTCCGTCTATCCTCACTAGTGTCTAATCTCTACCAGACTTAGCCTGGCACATAGTGGGTATTGTGTACATGTTTGCTGGATGGATGAGAGGGTAGGTGGGTGAATAAATGAGCGGGTGGGTAGGTAGGTAGGTGTGTGAATGAGTGGATGAATGGATGGAAAGATCAATGAATGGATGAACAGCTGAACAGACAGATGCATAGGTGAGGGAATGGTTGGATGTATTGTTAGGTGGGATAGATGGATGGGTAAGCGAATGGGATG
|
Task1_train_22402
|
A variant found in Chromosome 16 affects ABCC6 (ATP binding cassette subfamily C member 6). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
CATAGCCAGCCTGTCAAAGCATAAGTGGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACC
|
CATAGCCAGCCTGTCAAAGCATAAGTGGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGGCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACC
|
Task1_train_22403
|
Here is a genetic alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCATCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
Task1_train_22404
|
Chromosome 16 houses a mutation in gene ABCC6 (ATP binding cassette subfamily C member 6). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCATCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
Task1_train_22405
|
The following genetic variant occurs in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Pseudoxanthoma elasticum, forme fruste
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCATCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
Task1_train_22406
|
The gene ABCC6 (ATP binding cassette subfamily C member 6), on Chromosome 16, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Arterial calcification, generalized, of infancy, 2
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCATCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
Task1_train_22407
|
A variant affecting Chromosome 16, within the gene ABCC6 (ATP binding cassette subfamily C member 6), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
GGCCAGGCCTGGCATGGTGGTTTACAGCTATGGGGAGGAACCAGTCCTGCCCTACTGCAGCATTCAGACAACTCCAGCAAGCTGGCCTCGGCCCACTTGAAGACATCCATCAATTGGAAGGCATATTGTTCATTCCATGAACTGGCCTTATAGGGGCCTAATCATCTTGGCTAACTGGACCAATTTTGGTAAATTATCCCTCAGCAGGGCACCATGGGGGGGACTTCAGCAGGTTCTCTATCCATAATGGTTTTGGTTGCCCGCCTAACTGCCCGAGATGCGGGTGGTCCCTTCAGCTACTTCAGCTTCAGCCTGTGCCCTTCTGAGTGTGGCACCATGGTGGACTCACCTCTCGCGTCTAAGCTCGGGCCTCCTGCCTGCAGAGGTGCCTCTGGGGTCCTTGGTGCTGGTCCCAGGTTCTGTTTCTGCAAGGTCAAGAGAGTCCTGTCACGCAACACGGCCCAGATACCCACTTTGACACCCACTGACTATGTGGCCTTAACCGCTCTGACCATCCATTTCCCCTGATCTGGCTCCTGCCACGTCTCCAGCAACCTCTCTCAACACCCCACTCTGAGTTCTTCCAGGAACATCCTTCAGGCATTCACTCACTCATTCATTTCTTCAATCAGTGATAACTGAGCACCTACTATGAACTTGAGGTTGGAAAAACAGCATTTAACACTGTACAAAGTCAAGTTACCTCTGTTTCCCCCAACAGCCTTGCTCAAGCAGTTCCTTGTGTCTGGAATGCTTTTTTCTGGCTAACTCTCACCTACCCTCAGGTACCATCTCCCCTAGGAAGGACACCTCCCCACCACTATCCCCCAGGTGTGGCCAGTAACTGAAAGCAAATCTGTAGTAGTTTAACCACAGACCTGTAAGCAACAAGTAACTGCTACTGTAAGCTGCTAGGATTTGGGGGGCTATTTGTTACACAGCATCATCACAGCAAAAGCTGACCAACACAAACAGGCAAGTTCTATCTTCAAGCTTCAGGACTGTGACATTGTGAATCAACACTTAAGGTTTTAACCAGGTTGGGCCAGTGCTAAGCAGATGTTCTCAGAAGAAGCAAAGCCTGAGATTGAGGGAGACCTGGATGTGAATCCTTGCTTTGTCATGAAGGGATAGTGTAGAGGGTAGCAATTAAAAAACACATTCTCTGGAATCAAGTTGCTTGGGTTCAAATCCCAGTGCTGCCACTTACAAGCCATGTAACCTGGGACTAGTTCCTTAACTTCTGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCCTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATC
|
Task1_train_22408
|
Here is a variant affecting ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
TGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCT
|
TGGGCCTCAGTTTCCTCATCTGTGAAATGGAAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAAAGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCT
|
Task1_train_22409
|
Gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGA
|
AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATTCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGA
|
Task1_train_22410
|
A variant has been detected on Chromosome 16 in ABCC6 (ATP binding cassette subfamily C member 6). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Pseudoxanthoma elasticum, forme fruste
|
AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGA
|
AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATTCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGA
|
Task1_train_22411
|
Gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Arterial calcification, generalized, of infancy, 2
|
AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGA
|
AAATGATTCTAGTACCAGCCTCACAGGGGCATTATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATTCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGA
|
Task1_train_22412
|
A mutation in ABCC6 (ATP binding cassette subfamily C member 6), located on Chromosome 16, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
TATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGT
|
TATGTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACATCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGT
|
Task1_train_22413
|
This variant affects the gene ABCC6 (ATP binding cassette subfamily C member 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCTGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
Task1_train_22414
|
Given this variant in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCTGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
Task1_train_22415
|
A genetic alteration is present in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Pseudoxanthoma elasticum, forme fruste
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCTGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
Task1_train_22416
|
Consider this mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; Arterial calcification, generalized, of infancy, 2
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
GTTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCTGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAG
|
Task1_train_22417
|
A variant was discovered on Chromosome 16, affecting ABCC6 (ATP binding cassette subfamily C member 6). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; not provided
|
TTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGG
|
TTGATTAAATGAGCTAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCAGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGG
|
Task1_train_22418
|
Here is a mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCA
|
TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCTGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCA
|
Task1_train_22419
|
This mutation is located in gene ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Pseudoxanthoma elasticum, forme fruste
|
TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCA
|
TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCTGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCA
|
Task1_train_22420
|
This alteration occurs within gene ABCC6 (ATP binding cassette subfamily C member 6) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Arterial calcification, generalized, of infancy, 2
|
TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCCGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCA
|
TAACCTCTGTGATGTGCTGTTAGTTGCTACTTTTCAGTCATTGTGAGTGAGCTTGGCTTGGCAACTTTACTTCCAGAACCTTGCCATGTATCCAGCACACTGTTTTTCTGGATTATTAGAAACCCTAGCTAGCATGGTGTAGCTTGCTAGGCATCAAAGTCCTTCTTGGGCTGTCTCCATAGCAACTGCAAGCATAGACTCTGGAGCTGGACATACTCAAGTTCTAATCTTGTGACCTTGGGCAAGTGATTTAACTCTCTTTGCCTCAGTTTGCTCATCTGTAAAATGACAGCAATAACTTCACATGCCTCTGGGGCATGTGTGAGAATCAAATGAAATAGTGTATTTTTTACAGAAGCACTTAGCACAACCCCTGGCTCATGGATGATGTTATCGGCTATTCTTGGAGAAAGGTGACCTATTAAGAGAGCTGTCTGCTTCCAGGCCTAGGCCTGCAGACAGGGTGTGGCCAGAGCACTCCATTCATGCCAGTAGGACCCTTCGAGCCTTTTCCCCCAAGGGTGGCAGGAGCCAGGCCTGGAGAATCAGCAAAGCCCACCTAGTACCTCCTTCTCCTCTATCTCCTGGCTGTCTGGCTTGATCCAGAAGACACATGAGGGCCCCCTTCCTCTGCAGAAGCTCCTGGTAGGAACCCATCTCTGCGATGGCCCCATTTGCCAGCACTATGATCCAATCAGCCTGGGGCAGGATGTGGAGTGCGTGCGTCACGAGAATCCGTGTCTGGGCAGGGAAGGGGTAGAAGTTACACACATGTGGCCGGGTGCAGTGGCTCATGCCTGTAATCCCAACACTTTGGGAAGCCAAAGCATGTGGATCACTTGAGGCCAGAAGTTCGAGACCAGCCTGGCTGACACGGCTAAGCCCCATCTCTACTAAAAATACAAAAATTAGCTAGGTGAGGTGGCGCACACCTGTAGTCTCAGCTACTTTGGAGGCTAAGGCAAGAGAATCACTTAAACCTGGGAGGTGGAGCTTGCAGTGAGGCGAGATTGGACCACAGCACTCCATCCTGGGTGACAGAGCAAGACTCTGTCAAGAAAGGAAAGAAAGAAAGAGAAGAAAAGAAAGAAGAAAAGAAAAGAAACAAAGGAAGGAAGGAAAGAGAGAGAGAGAGAAAGAAAGAAAAAAAAAATGTACGGCCGAGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGATGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTTTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGCCGGAGCTTCCAGTGAGCGGAGATCGCACCACTGCCCTCCAGACTGAAAGACAGAGCGAGACTCCATCTCAAAAAAAAAAGAAAAAGAAAAAAGTTACACACATGTGCTTGGCCAGCCTCCTGAGCTGGGGGTTGGGGTGGGGGTATTGTCCCTGGACTCAGAGTGGGGACAGCTCCCCTTCTTGTGCTCCTGCCGCCTTTCTTGTAAACAGCATATCCAAATAGAGAAACAGAGGGGACTCCCTTAGCCTGTGTCTCAAAACAAGAAGACAAGGAGTACATCTGACCCTGGCCAATCATCCAAGGCAAAGCTGTAGTAGTTAAATCACAGATCCATAAGGAAGAAACACCTGCTGTTGTAAGCTGCTGGGATCTGGGGGTTGTTTGTTACATAGCATTGTCACAGCAAAAGCTGACCAATACAAAGAGGAAATTGGACTCAAGTGGAAGGGGGAGGTGAGATAAACTTGGGTTAGGACTGGATGCTAAGTGCTTCCTCTGCCTTTGCCCTGTACTGTCTGACACATGTTCCCAAACTTACTGTTCCCTGGAGTAGTCCACCAGGCCCAATGACCTGGTTGAAGACATGCTGGCCAACGTGGGCATCCAGGGCCGCCAGGGGGTCATCCAGCAGGTACACAGCTGCCTTTCTGTATACAGCCCGGGCCAGGCTCAGCTGCTGCTTCTGGCCTCCGGAGAGATTCATGCCCTGTGGCCACAAAAGGAACAGTGGCCTGAGTCAGCATCTACAGGGTGAAACTGGGGTGCCCAGGCTGTGGCAGGTCAGGGCACACCTGCCCATCAGGGTGAGGTACAGCTCAACATGCCTATTCCCTGGGGACAGGCCCAGCTTCCAAGGCACTCGCTCTCAAGCCAACAATGCCTCCATCCTTACCCGACCTCACTTCTCCACTTCCCAAGCACGCTTCCTGGAGGAGTTACCTACACTTCCCAATCCACTCTGTCTCCTCCTGCTCACTCTCTCTATCTCTTTGAGTCCAACTCTTGTTTCCCTTTCTCCACTGAGACCACCATCCATTTCCCTATTCCCTCATCCAGTGGCAGCTTTTCAGTCCTACTTTTGTATTTTAAATTTTAATTGTTTTCTTTTAGTTTTCATTGATATGTAATAGTTGTAACTATTCGAGGGGCACAAGTGGTATTTGGATACCTGTAGGGCAGTGGTCCCCAGCCTTTTTGGCACCAGGGACCAGTTTTGTAGAAGACGATTTTTCCATGGACCTGGGGGCAGGGGGATGGCCCGGGGGATGGTTTCAGGACGATTCAAGCACATTACGTTGATTGTGCACTTCTATTATTATTATTACTGCTGTTGTCGTTGTTATTATTGAGATGGAGTTTTGCTCTTGTCACCCAGGCTGGGAGTGCAATGGCATGATCTTGACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGAATTACAGGCACCCACTACCACGCCTGGCTAGTTTCTGTATTTTTAGTAGAGATGGGGTTTCACCATGGTGGCCAGGCTGGTCTCGAACTCCTGCCCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTACTTGTATTATTATTGCATTGTAATATATAATGACTCACCATCATGCAGTATCAGTGGGAGCCCTGAGCTTGTTTTCCTGAAACTAGATAGTCCCTTCTGGGGATGATGGGAGGCAGTGACAGATCATCAGGCATTAGATTCTCATAAGATCCCTCACATGTGCAGTTTACAGTAGGGTTTGTGCTCCTATGAGAATCTAATGCTGCCACTGATCTGACAGGAGGTGGAGCTCAGGCGGTGATGGGAACAATAAGGAATGGCTGTAAATACAGATGAAACCTCACTCGCCTGCCCTCTGCCCACCTCCTGCTGTGCTGCCTGCCCAGTTCCTAACAGGCCACAGACTGGTGCTGATCCATGGCCCGGGGGTTGGGGACCCCTGCTGTAGACAATATGTAATGATCAAATCAGGGTAACTGAGATAGTCATCACCTCAAATATTTATCTTTTGTATTGCGAACACAACCATCCTTCTCTTCTAGCTATCTTGAAATATACAAGTAAATGATCATTAACTATAATTTCCCTTGTGCACTATTGATTACTTTAACTTATTCCTTCTATCTAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCA
|
Task1_train_22421
|
A mutation on Chromosome 16 affecting ABCC6 (ATP binding cassette subfamily C member 6) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
TAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGTCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCTGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCCCACTGGACCGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAA
|
TAGGCCTTCTTGTCTTTCATTCATTCTTTTAAAACTTATTTTTATTTATTTTTGAGATGGAGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGCCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCTGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCCCACTGGACCGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAA
|
Task1_train_22422
|
This alteration occurs within gene ABCC6 (ATP binding cassette subfamily C member 6) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
AGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGTCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCTGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCCCACTGGACCGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAAGCGATAGAGTTGGAGACTATAGATGATCATGACCTCGGACTGATACAGGAGGCACAGAAG
|
AGTTCCACTCTGACACCCAGGCTGGAGTGCAATGGCTTGATCTCGGCTCACTGCAACCTCTGCCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTACGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGCTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGCAACCCTCCCGCCTTGGCTTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTACCCAGCCATTCATTCATTCTTACATTCAGTCATTCCACTAATAACCACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGTCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCGGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCCCACTGGACCGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAAGCGATAGAGTTGGAGACTATAGATGATCATGACCTCGGACTGATACAGGAGGCACAGAAG
|
Task1_train_22423
|
This mutation occurs in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
ACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGTCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCTGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCCCACTGGACCGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAAGCGATAGAGTTGGAGACTATAGATGATCATGACCTCGGACTGATACAGGAGGCACAGAAGTGAGCACAGCTGATAGGGCTGAACCTTGGGGCTCCTCTCAGCCAGCCCTCCCTTGGCATCGTCTTGGCCAGCCTGGGAGCACAGGGGTGTCTCCCCCTAATGGGGGAGGCTCAGATGCCCTGGTCCCCGTCTGCAGGAGATACTGGTCTATGCTGTGCAGGTCCCCACCTTCAGGAGGTAGAGATGTATCCTGAGAACCTCCCCGGCAGAGCCCCAGCCCAGCCAAACCCACCCTCCAGTCCCAGGCTGGAAACCTACACCACCTCTCAGGTGGGAGGCAGCAGGAGCCCCATGCATCTTCTCCCTAAAAAC
|
ACTGCCTCGTTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGTCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCTGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCACACTGGACCGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAAGCGATAGAGTTGGAGACTATAGATGATCATGACCTCGGACTGATACAGGAGGCACAGAAGTGAGCACAGCTGATAGGGCTGAACCTTGGGGCTCCTCTCAGCCAGCCCTCCCTTGGCATCGTCTTGGCCAGCCTGGGAGCACAGGGGTGTCTCCCCCTAATGGGGGAGGCTCAGATGCCCTGGTCCCCGTCTGCAGGAGATACTGGTCTATGCTGTGCAGGTCCCCACCTTCAGGAGGTAGAGATGTATCCTGAGAACCTCCCCGGCAGAGCCCCAGCCCAGCCAAACCCACCCTCCAGTCCCAGGCTGGAAACCTACACCACCTCTCAGGTGGGAGGCAGCAGGAGCCCCATGCATCTTCTCCCTAAAAAC
|
Task1_train_22424
|
This gene mutation involves ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
TTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGTCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCTGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCCCACTGGACCGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAAGCGATAGAGTTGGAGACTATAGATGATCATGACCTCGGACTGATACAGGAGGCACAGAAGTGAGCACAGCTGATAGGGCTGAACCTTGGGGCTCCTCTCAGCCAGCCCTCCCTTGGCATCGTCTTGGCCAGCCTGGGAGCACAGGGGTGTCTCCCCCTAATGGGGGAGGCTCAGATGCCCTGGTCCCCGTCTGCAGGAGATACTGGTCTATGCTGTGCAGGTCCCCACCTTCAGGAGGTAGAGATGTATCCTGAGAACCTCCCCGGCAGAGCCCCAGCCCAGCCAAACCCACCCTCCAGTCCCAGGCTGGAAACCTACACCACCTCTCAGGTGGGAGGCAGCAGGAGCCCCATGCATCTTCTCCCTAAAAACATGAGGCTG
|
TTATCATAAACCAGGCATGGTTCTAGGCTCTGGAGAAACAGCAATGAGCAAAACAAAGTTGCTGCTCTCTTAATGGATCCATCATTCTCATGAAGGGGACAGAGACAGGCAATCCATAAACAAGTAAGGCAGACAGCACATCAGGTGGAAAGTGCTATGAAGAATAAATAGTAAAGCAGGGGGAGCCAGGTTCAGGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGGAGCTGGGTGGATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAGTACAAAAAAAAATTAGCCAGTTGTGGTGGTACATGGCTGTAATTCTAGCTACTCATGAGGCTGAGGTGGGAGGATTGCTTGAACTACTCATGAGGCTGAGGTGGGAGGAATGCTTGAACTCAGGAGGTGGAGGTTACAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAGAGAAAAAGCAGGTGCAGGTGTAGGGTGCACTAACAATAGTAGGGTGGCTGTGGTGGTAGATAAGGTGGTCAGGAAAGGCCTCTCTGTGAAGGTGATAGAAGTGAGGGATGAGCCCTGGGGACTCCTGGGGAGAGCTTTCCAGCAGAGGGAACAGCAGTGCAAAGGCCCTGGGGCCAGAGTGTGCTGTGGGGGATCAGGGAATATCACAGAGACTAAGGTGGCTGCAGTAAAGCTGAGAGGTGATGATGGGAGATGGGGCTAATGGATACCAGAGCCAGGTCACAGGGACCTTGCCAGGGATTGTCATGACTTGGGCTTTGTCTCTGAGGTAAATGGGGAGATCACCTGAGGTCCGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATATAAAAATTAGCCAGGTATGGTGGCATGTGCCTGTAATTCCAGCTACTCAGGAGGCTGAGGTGTGAGAATTGCTTGAACGTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCATCACTGCATGCCAGCCTGTGCAACAGAGCAAGACTCTGTCTCCAAAACAAAACAAAAAACAAAACCACAAGTGGTGGGCTGGATTTGGCTTGGGGTCACAGTTTGCCAACCCCTGCCCAATCCATAGCTCCAGATGCATATATCCTGTTTCTTGGACATCTCTGTCCAGACCCCTTGGTGAGGCCCAGAGAGGGGAAGCAATTACACCAACATTACTCAGCAAGGCAGGGCAGAGTAAGACAGGAGTCTAGGTCTTCTCACTCTCAGTTGTCAGAGAGCTCCTCACTGCCAATCCCTGCCACAACTCCCTGCCTCTCTCTTTGTGTCTATTTCTGCTTATCAATTAGTGATTACGTATTGAGCACCTAGCACGTGCTTGACGCTGAGCTGAGCCCTTTTTCTCCGCTACTTCCCTAACCATTCCTCTCATTTCTCCATCATACTGCCCATGATGAGTCGGGGACCCAAATGACTCCCAACTGCAATGTCTCCCTGTCCCAAAAAGACCCCCAAACTCTCACCTGCTCCCCAATTGAAGTGTGGATTCCCTCAGGGAAGCTGTCCACATCTGGCTGCAGGGCACAGGCTTCTAGTACTCTCTCCAGCCAGGGTGGGTCCAGCTCCTGCCCGAAGCACACATTCTCTACCACAGAGGTGTTCTGCACCCAGGCCTCCTGGGGCACGTAGGCCACAGCACCCTAAAACACAACTTACTTTGGTCACAGGAGGATGATGGGGACAGAGGTGGGATAGGTTTTGAGGAGCAGTGGGAGCTGGGCTCTCAGTGGTGGGTGAGAGGTGGAGAGAATGAGTGAAAGTGAACTTGGCTGGGATGGGGAGGGTGGGAAGGCAGCGAGGAAGTGGGACTTTCAGGATGGGGACATCCTAGCAGACAGGCTGGGGGTGGCCTCACCTCGATGCTCACGAACCCCTCCACCTTTGACAGCTCCCCAAGGAGGGCGGACAGCAGGGAGGACTTCCCTGCCCCCACTGGACAGACAACAGCCAGCAGACAGCCCTGGGGCACCGTGAGGTTTATTCTGGACACGCAAGAGGGGAGACATGACCTTGGTTAGGGTTCAGCCCGCCTCTGTGAGGAAGGATGAGCCCCAGACGGAGCTGAGCTTTCCTGCTCTGGGAGTCTCCAAGAGGACCTGTGGGGCTGTTCTTTTTCCCAGTCCTTGTCTAGCTATTTGAGGAACTATCCTGTGCACATCTGTGCATGTACACATGCACACAAAGCGTGCACACATGCATGCACATTTGCACACTCATACAAGCATGCTAGCATGCACAGCAACACAATGTGGGCACGCATCCACACACACACAAGTGCATGCACATACCCAATCAATCCATGCTCACACGCATACATGTGTGCACACATGCACACCACGCACACACACACAGGGTTGACTATAGCCTGAGGGTTTCACCAGCCTGGCCTCCTGCCTTGGCTCTTGCGATAAATAGGCTCTTTCCTCCCTCCCTCCCGCTACTCTTGGTCCCGCCCCACTCCTGTCCACGTCCCACAGCCCATCCTCCACCCAGTGACCAGAGGGATCTGTTAAAACCCAAGTCAGATCGTGACACTTCCCAGCTAAACCCGCCAGCACTCCCATTTCACTCAGGGTCAAAGCTAAAGTCCTGACGATCAGGAATGACATCTCCCGCCTCCTTCCGCTCTGTGCCTCAGCTGCTCGGCCCTGGCCTTGCTGACCTCCTTGCTGTTTCTTGAACACAAAAGGCCAGTGGTTCTCACCAGGGGGTGACTGCATCCCCCAGGAGTCATTTGGCAAGATCTAGAGATATTTTTGGATGTCACAACCAGTAGGGGGTGCTGCTGGCATCTAGTGGGTAGAGACTGGGGTCAGCTAAACATCCCACAATGCACACGACAGCCCCCAACAAAGGAGTTTCAGCCCAAAATATCAACCGTGCTGAGGTTGAGAAACCCAGGTCCAGGCACTCTCCTGCCCCAGGACCTTTGCTGATGCCATTCCCACCGCCTAGAAGGTTCTTCTCCCAGGCCGGGCACGGTGGCTCATGCCTGTAATCCTAGTCCTTTGGGAACTGAGGCAGGTGGATCACTTGAGGTCAGGAGTTGGAGACCAGCCTGACGAACATGGTAAAACCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTAGCATGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAATCCGGAAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCATTGCACTCCAGCCCGCGTGATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAACAGCTCTTCTCCCAGACACTCCTTCCTTATGATCTCGGCTTGAATGCAAAGCCTTCCCTCGCTAGACATGCCATCGTACTCTGTTCCCTTGCTCTGGTTTTCTGTTTGGGCCTCACCTCTATCAGCATGTCACCCCACGAGAGCAGGGCCCTTGTCTGTTTCCTTCGCCCTATCCCCAATACCTAGAACAGAGCGTGGCCCATACCTAGTGCTCTATCGATGAAGTGAGTGAATGACAACCAATACAAATACTACCTGGGGCATATTCCTTCTCTTCTTAGGGAGTTTCAGGGCTGTCTGAGATTTTTGGCCACAAAGACCAAGCGATAGAGTTGGAGACTATAGATGATCATGACCTCGGACTGATACAGGAGGCACAGAAGTGAGCACAGCTGATAGGGCTGAACCTTGGGGCTCCTCTCAGCCAGCCCTCCCTTGGCATCGTCTTGGCCAGCCTGGGAGCACAGGGGTGTCTCCCCCTAATGGGGGAGGCTCAGATGCCCTGGTCCCCGTCTGCAGGAGATACTGGTCTATGCTGTGCAGGTCCCCACCTTCAGGAGGTAGAGATGTATCCTGAGAACCTCCCCGGCAGAGCCCCAGCCCAGCCAAACCCACCCTCCAGTCCCAGGCTGGAAACCTACACCACCTCTCAGGTGGGAGGCAGCAGGAGCCCCATGCATCTTCTCCCTAAAAACATGAGGCTG
|
Task1_train_22425
|
Consider this mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; not provided
|
GAAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACGGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAG
|
GAAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGAGGGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAG
|
Task1_train_22426
|
Consider this mutation in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACGGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGG
|
AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACAGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGG
|
Task1_train_22427
|
An alteration has been detected in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Pseudoxanthoma elasticum, forme fruste
|
AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACGGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGG
|
AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACAGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGG
|
Task1_train_22428
|
Assess the clinical impact of this variant on gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Arterial calcification, generalized, of infancy, 2
|
AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACGGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGG
|
AAGAAATCTCTCCCACTGAACAAATTGCCCTGCTACTCACTGGCTTGTGGGTGACCCCGCAGGGTTCTTGTTCTGTCCGTGTCCCATGGCTACATAATCCAGGGGGAGGCAAACTGTGGCCCAGAGACCAAATCCTGCCTGCTGCCTTTTCTTATAAATAAAGTTTTATTGGAACACGGCCACATCCATTCATTTCTCTATTTCATGCTTTGAGCAGTTGTGACAGAGACTGTGTGGCCCACAGGCCTAAAATATGCACAATCTGGTCATTTATGGAAAAAGTTAGTGAATTTCTGAAATAAATTATCATCAAATCCCAGCCTTCCCAGAGTGAAGGGGGTGTTATTAATTTCACTGTGGCCGGCACAGTGTCTCATGCCTGTAATCCCAGCACTTTAGGAAGCAGAGGTGGTAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCAAAACCCTGCCTCTACCAAAAAATACAAAAATTAGCCAGGCGTGGTGGTGGGCGCCTGTAATCACAGCTACTTGAGAGGCTAAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAACCAAGATTGCACCACTGCACTCCAGCCTGGATGACGGAGTAAGACTGTGTCTCAAAAATACTACTGCTACTACTACTAATTATTATTATTATTTCACTGTGATAACAAGTGTAATTAGATTAGTGGTTCTTGATCCTTAAGACGTAGTTAGAATTGCCTGAAAGATTTTCTAAAAATCAAAGCTCTCATGGCTTAGCCCAGATCAATTAAATTCATCGTCACAATTAGCTGCTATAACGATTAACATGCCCATTTTGGAGATGGGAACACGGAAGCTCAGAGAGATGATCTACTTGTCAGGATCACCCAGCTAGTCAGTGCTGGGGCTGGGATTTGGACCTGGGCAGTTGAATGCCACAGGCTCGGCTTCTTACCACTATGTGGGTGTTTTCCAGGTACACAGTTTGCCCAGGTTCTTCAGTGCAACAAGGGGGAGGGTGTCTTGGCCCGTGGCATAAAAGAAGGATGGGGTGGAGGGGGAAGCCCAGGTAACTTGAGCTTGGTAAGTCTCATCGTGCAATGGTGCTTGAAATGCTGCTATTTTCCAGCTTGATCAAAATGCTGTCATGCTTATTACCTGGGACTTTCTGCATGAGGACAAGGACCTGGTCTGTTAGAGCAGGAGTCCTCAACCCCCAGGCCACAGACTGGTACCAGTCTGCAGCCTCTTAGGAACTGGGCCATACAGCAGGAGGTGAGCGCAGGGCAGGTGAGCAGAGTGTCATCTGTGTTTATAGCCACTCCCCATCACTCCCATCACCGCCTGAGCTCCACCTCCTGCCAAATCAGCAGCAGCAATAGATTCTCAAAGGAGCACGAACACTTGTGAACTGTGCATGTGAGGAATCTGGGTTGCGTGTTCCTTATAAGAATCTAATGCCTGATGATCTCTGTCTCCCATCACCCGCTTTGGGGCCATCTAGTTGACGGAAAGCAAGCTCAGGGCTCCCACTGGTTCTACGTTATGGTGAGTTGTATAATTATTTCATTATATAGTACAATGTAATAATAATAAAGGGCACAATAAATGGAATGTGTTTGAATCATCCCAAAACCACGCGCCTCTCCCCGGTCCGTGGGAAAACTGTCTTCCACAAAACCAGTCCCTGGTGCCAAAAAGCTTGGGGACCACTGTGTTAGAGTGTTCCCTGTTGTACACCCAGGATGGTACAAAGTGGGCGCTCAGTGAGTGGTCGCTGAATGGCTAGCAGAAAGAAGAGCAGCACGGTGCCAGTTTCCAAGTGACACGCAGATGGCGTGATCTGCACGTGTCATCCATTGCCCGCAGCCCCCATCTCCCCCCAGTACTGATGCTGGCTTGCCATTATGGGCTGGGGTGGCCCCCACATCCCCCATCCCTCCCACACCCCTCCTGCCAGACTCAGCACTCACCGCTTCCAGAGGAACTTGAGTCTACGACACCAGGGTCAACTTCTTCCAGGCAGAGGAAGGTGACCAGACAGTCAAAGGACACCCGGGCCTAGGAAAACCGAAGCCGCAGGTCACCCAGCAAGAAGAGCAAAGAACTCAGGTTTTGGGTGTCGGTGTCTCAAGATGTGTGGCAACAGCTTCCTGTCTACCAAGCTCTGTGCATAGGAGGCGTGAGGACAAAGCTTTCTAGTTCATGGGAAACGATGCAACCCGAGTGGTGACCTTGATGGTGGTGATCTCCCACCTCTGCGATCCTACAAATCAGTGACACCGAAGCAAGCCAGCTGCCATTCTGCAGACAAGATCTGGGAAGAGGATGGTGGCTTTTCCAATAAGGTTATCAAGCCATTGTGTGGAACAATTTCAAATGTTGTCCACCTGGGGGCGCTCTCTCCCAGTCACAAACCCATCTTTGGGGAAGAAAGAGACCAGTCGTTAAAATAGAGATTAGGCCAGGTGCAGCGGCTCATGCCGGTAATCCCAGCACTTTGGGAAGCCAAGTGCAGGAGGATCACTTGAGGCCAGGAGTTGGAGACCTGGGGAACATAGCAAGACTCTTTGTTTCTACAAAAAATTAAAAAAATTAGCCGGATGTGGTGGCCCATGCCTGTAGTCCCAGCTACTCAGGAGGCTGGGAGGTAGAAGCATCACTTGAGTCCAGGAGTTTGAGCATGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACACTGTCTCAATAAATAAATTAAATAAATAAATAAATAAATAAATAAATAAATAAATAAGGCGGCCAGGCGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCTTATTACATGAGGTCGGGGGTTCAAGACCAGCCTGGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAATAAATAAATAAATAAGACTGGGTGCAGTGGCTCATGTCTGTAATCAGCACTTTGGGAGGCCAAGGTGGGCAGATCACCTGAGGTCAGCGGTTCAAGACCTGCCTGGCCAACATGGTGAAATCTCATCTCTACTAAAAATACAAAAAAAAAAAAAAAAATTAGCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGG
|
Task1_train_22429
|
This mutation occurs in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; not provided
|
GCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGGGGAGAACCTAATGCCTCTAGGTTCCAGGCATCGGGGGACAGCAGAGTTTTTGATCTTGGTAGCCCTGTTGTTCTAGACGTGGTGGAACTTGTGATTCTAGAGTCCCTTGGAAGATGACTCTAAAGTTGCAGGCAGGAGCAGCACTTGAGGGCTCTAGGTGTTGGTGCCATTTGTGGTGCTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCGCCCGCCACTGCAACCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTATTGGGACGACAGGCATGAGCCACCACACCCAGCCTACGTATCAAATTTTTTAAAACTGTGGTTTAGGAAGGTTGTTCTGACAGCAATATGAAATAAATTACAGAATGGCAGGACAAGGATCACGTCCAGTGACAGGGTGGCTATGGACATCTGCTGGCCAGGATCAGGGAAGTCACTCTGACCCAGGATTCTACCTCTGCCACCCCCCTGCATCTGTACCCTCCTCCCCACATCGGTAGAAGCCTGGAACTCTCTCTGAGAGTTCAGCAGACTTTATCAGCCACTGCCACCTTTGCTAGAATAATATGATTAATTAGTTCTTGTAGAAGACAGCAGGGACCCAGAGAGAACAGGATCCAGAATGAGTGGGTTTTGATGGACGGGGTGGTAGGATCTGGGGGGCTCCACCTACCTCACCCTGCCCCCACCCCCGCACTCCTTCCCCAGTGCTGCTCAGCATAGAGACTAGAGTGACGTCACCAGAAATGTAGACACTTGGAAGGACACCAGCGACACAGAGAAGAGGAGGCCGGAGGTCCGCAAGGCGCCCAGCTCCTGGCCTCGGATGCCCAGGACTCTGTCCAGAAAGGCTCCCTCCCAGCCATGGAACTTGATGGTCTTCGAGTTCCTGAGGATAGAGCTGGTGAGCCGTGCCCGTGAGTCCTTCTGCCTCATTTGCTCCTCCTGGGATCGGAGGGAAAAAGAGAGATGAAGACAGGGACAGTTGAGAACTCTTCCCTGCACCCTGACAGCCACCCTTCAGCAAATCCCATTCATCTCACCAAACTGCGTCCCAAACCTGTCTGCCTCTCAGCACCTCTGACCCTCACTCCTGGTCCAACCACCATCATCCTGTACCTGGACTTCTGCAGGAGTGCCCCTGGGATAATGTGCCCCATGGAGGAAGCCTCTGATGCCCGGAGAACAGAGGCAGCCTGAGCCCACCTGGGTATGACACCATCAGGAAGGCTACCTGGAGGTGGTTGATGCCTGAGCTACGTCTTTTTTTTTTTTTACCTTTTACATTTTTTGTGGAGTTGGGGTCTCACTATGTTGCCCAGGTTGGCCTCGAGCTCCTGGGCTCAAGTGATCCTCTGCCCTCAGCCTCCTAAAATGCTGGGATTACAGCCTGAGCTAAATCTTAAATGACCAGGAAGTGCGTGCTGAGCAGGCAGAGGATGGGGGGATGGAGCTGGAGAAGAGGGAGGGGAGGGGCTTGAGATGGGGGTGGGGGGTGGGGGCTGGGGGGTAGGGGGGTGGCGGGGGCACCTAAAACCCAGGCACAGGGAATAGCATGACTCAGAGGACACTCAGTGTGACCAGAGGAGCGTGTGGGCAGGGTCACTTGGCACTTTAAAGTCAGGCAGAAGAATTCAGGGTCTCCTGTGCTTCACCATGGGGCGGGGGGCATCATCAGAGGGGCAGCTGCCTGGAGAAGGTTTTACTTTTTGAGACCGAGTCTTCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGGTCTCGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTGAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTGTATTTTTTGTGGAGGCAGGGTTATGCCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCCCAGCCTAGAATGTTTTAGAGGAGTCCACGCAGGAGGCTGAAGAAACAGCCCAGGTGACAGACGGACACTGGGACAGCTGGGCCAAGAGAGGAAATAAGTTCCTTCCCTCCATCCCCCATCTCTCCCTCTCTCTTTCCCGCCTTTTCTTTCCTTCCTTCCCTATCTCCTTTCTTCCTCTTTCCTTTGCTTTCTTCCCTCTTTCCTTTTATTTCCTTCCCTCCCTCCCCCCTTTCTTCCTTCTCTCCCTCATTCCTTCTCTTCCGCCCTCAATTCTTTCCTTCCCTCCTTCCCTCTGTCCTTCCTCCCCTTTCCTATCTTTCCTTCCCTCCCTCCTTTTCTCTCCTTCCCCTCCCTCCTTCCTCTCCTCCTTTCCTTCTTCCCTCCCTCCTTTCTTCCATAGTTCACAAACACTTACTGAGAACCTTCTGCCTGCCAAGCACTAACTAGATGCCGAGTTGGCCACAATCAGTGGCCTGTGCTGTTGCAAAGCTTCCAGTTAAGGAAAACAAGGCAATCAACCCTGCCGGGTGCTTCCTGTAGGACCCTGTAGGTTGTGGGAAGTGCTGTGGGGGGAAAAAAGCAAAAACAATCCCAGGGCAGGCAAAGGAGAGGCTGCTGCTGGGAGGGGAGGGATGGACGTGCCATTTCCTTGCTGGAGGGTGGTGAGGGAAGCCGCCCTGACTGCAGGGAGGTGACAGAGGATCTTCGGGAGTGAGGGTGATCCAGGTGGAGGGAACAGCTAAAGCGAAGGCCTGCAGGGATGTGTGAGATCGGGCAGGTTTGAGGATGGGAGATGTGTGGGGAAAGGCAGGGAAGGAGGGGAGATGGGTAGAAGGTGAGGTTGGAAGCAATAAGGCCAGCTCAGGGCGGGCCTGGTGGGCCACTGTGGGGTCTTTGGCTC
|
GCTGGGCATGGTTGTGCATGCCTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGGGGAGAACCTAATGCCTCTAGGTTCCAGGCATCGGGGGACAGCAGAGTTTTTGATCTTGGTAGCCCTGTTGTTCTAGACGTGGTGGAACTTGTGATTCTAGAGTCCCTTGGAAGATGACTCTAAAGTTGCAGGCAGGAGCAGCACTTGAGGGCTCTAGGTGTTGGTGCCATTTGTGGTGCTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCGCCCGCCACTGCAACCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTATTGGGACGACAGGCATGAGCCACCACACCCAGCCTACGTATCAAATTTTTTAAAACTGTGGTTTAGGAAGGTTGTTCTGACAGCAATATGAAATAAATTACAGAATGGCAGGACAAGGATCACGTCCAGTGACAGGGTGGCTATGGACATCTGCTGGCCAGGATCAGGGAAGTCACTCTGACCCAGGATTCTACCTCTGCCACCCCCCTGCATCTGTACCCTCCTCCCCACATCGGTAGAAGCCTGGAACTCTCTCTGAGAGTTCAGCAGACTTTATCAGCCACTGCCACCTTTGCTAGAATAATATGATTAATTAGTTCTTGTAGAAGACAGCAGGGACCCAGAGAGAACAGGATCCAGAATGAGTGGGTTTTGATGGACGGGGTGGTAGGATCTGGGGGGCTCCACCTACCTCACCCTGCCCCCACCCCCGCACTCCTTCCCCAGTGCTGCTCAGCATAGAGACTAGAGTGACGTCACCAGAAATGTAGACACTTGGAAGGACACCAGCGACACAGAGAAGAGGAGGCCGGAGGTCCGCAAGGCGCCCAGCTCCTGGCCTCGGATGCCCAGGACTCTGTCCAGAAAGGCTCCCTCCCAGCCATGGAACCTGATGGTCTTCGAGTTCCTGAGGATAGAGCTGGTGAGCCGTGCCCGTGAGTCCTTCTGCCTCATTTGCTCCTCCTGGGATCGGAGGGAAAAAGAGAGATGAAGACAGGGACAGTTGAGAACTCTTCCCTGCACCCTGACAGCCACCCTTCAGCAAATCCCATTCATCTCACCAAACTGCGTCCCAAACCTGTCTGCCTCTCAGCACCTCTGACCCTCACTCCTGGTCCAACCACCATCATCCTGTACCTGGACTTCTGCAGGAGTGCCCCTGGGATAATGTGCCCCATGGAGGAAGCCTCTGATGCCCGGAGAACAGAGGCAGCCTGAGCCCACCTGGGTATGACACCATCAGGAAGGCTACCTGGAGGTGGTTGATGCCTGAGCTACGTCTTTTTTTTTTTTTACCTTTTACATTTTTTGTGGAGTTGGGGTCTCACTATGTTGCCCAGGTTGGCCTCGAGCTCCTGGGCTCAAGTGATCCTCTGCCCTCAGCCTCCTAAAATGCTGGGATTACAGCCTGAGCTAAATCTTAAATGACCAGGAAGTGCGTGCTGAGCAGGCAGAGGATGGGGGGATGGAGCTGGAGAAGAGGGAGGGGAGGGGCTTGAGATGGGGGTGGGGGGTGGGGGCTGGGGGGTAGGGGGGTGGCGGGGGCACCTAAAACCCAGGCACAGGGAATAGCATGACTCAGAGGACACTCAGTGTGACCAGAGGAGCGTGTGGGCAGGGTCACTTGGCACTTTAAAGTCAGGCAGAAGAATTCAGGGTCTCCTGTGCTTCACCATGGGGCGGGGGGCATCATCAGAGGGGCAGCTGCCTGGAGAAGGTTTTACTTTTTGAGACCGAGTCTTCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGGTCTCGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTGAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTGTATTTTTTGTGGAGGCAGGGTTATGCCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCCCAGCCTAGAATGTTTTAGAGGAGTCCACGCAGGAGGCTGAAGAAACAGCCCAGGTGACAGACGGACACTGGGACAGCTGGGCCAAGAGAGGAAATAAGTTCCTTCCCTCCATCCCCCATCTCTCCCTCTCTCTTTCCCGCCTTTTCTTTCCTTCCTTCCCTATCTCCTTTCTTCCTCTTTCCTTTGCTTTCTTCCCTCTTTCCTTTTATTTCCTTCCCTCCCTCCCCCCTTTCTTCCTTCTCTCCCTCATTCCTTCTCTTCCGCCCTCAATTCTTTCCTTCCCTCCTTCCCTCTGTCCTTCCTCCCCTTTCCTATCTTTCCTTCCCTCCCTCCTTTTCTCTCCTTCCCCTCCCTCCTTCCTCTCCTCCTTTCCTTCTTCCCTCCCTCCTTTCTTCCATAGTTCACAAACACTTACTGAGAACCTTCTGCCTGCCAAGCACTAACTAGATGCCGAGTTGGCCACAATCAGTGGCCTGTGCTGTTGCAAAGCTTCCAGTTAAGGAAAACAAGGCAATCAACCCTGCCGGGTGCTTCCTGTAGGACCCTGTAGGTTGTGGGAAGTGCTGTGGGGGGAAAAAAGCAAAAACAATCCCAGGGCAGGCAAAGGAGAGGCTGCTGCTGGGAGGGGAGGGATGGACGTGCCATTTCCTTGCTGGAGGGTGGTGAGGGAAGCCGCCCTGACTGCAGGGAGGTGACAGAGGATCTTCGGGAGTGAGGGTGATCCAGGTGGAGGGAACAGCTAAAGCGAAGGCCTGCAGGGATGTGTGAGATCGGGCAGGTTTGAGGATGGGAGATGTGTGGGGAAAGGCAGGGAAGGAGGGGAGATGGGTAGAAGGTGAGGTTGGAAGCAATAAGGCCAGCTCAGGGCGGGCCTGGTGGGCCACTGTGGGGTCTTTGGCTC
|
Task1_train_22430
|
This variant lies on Chromosome 16 and affects the gene ABCC6 (ATP binding cassette subfamily C member 6). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; ABCC6-related disorder
|
CTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGGGGAGAACCTAATGCCTCTAGGTTCCAGGCATCGGGGGACAGCAGAGTTTTTGATCTTGGTAGCCCTGTTGTTCTAGACGTGGTGGAACTTGTGATTCTAGAGTCCCTTGGAAGATGACTCTAAAGTTGCAGGCAGGAGCAGCACTTGAGGGCTCTAGGTGTTGGTGCCATTTGTGGTGCTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCGCCCGCCACTGCAACCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTATTGGGACGACAGGCATGAGCCACCACACCCAGCCTACGTATCAAATTTTTTAAAACTGTGGTTTAGGAAGGTTGTTCTGACAGCAATATGAAATAAATTACAGAATGGCAGGACAAGGATCACGTCCAGTGACAGGGTGGCTATGGACATCTGCTGGCCAGGATCAGGGAAGTCACTCTGACCCAGGATTCTACCTCTGCCACCCCCCTGCATCTGTACCCTCCTCCCCACATCGGTAGAAGCCTGGAACTCTCTCTGAGAGTTCAGCAGACTTTATCAGCCACTGCCACCTTTGCTAGAATAATATGATTAATTAGTTCTTGTAGAAGACAGCAGGGACCCAGAGAGAACAGGATCCAGAATGAGTGGGTTTTGATGGACGGGGTGGTAGGATCTGGGGGGCTCCACCTACCTCACCCTGCCCCCACCCCCGCACTCCTTCCCCAGTGCTGCTCAGCATAGAGACTAGAGTGACGTCACCAGAAATGTAGACACTTGGAAGGACACCAGCGACACAGAGAAGAGGAGGCCGGAGGTCCGCAAGGCGCCCAGCTCCTGGCCTCGGATGCCCAGGACTCTGTCCAGAAAGGCTCCCTCCCAGCCATGGAACTTGATGGTCTTCGAGTTCCTGAGGATAGAGCTGGTGAGCCGTGCCCGTGAGTCCTTCTGCCTCATTTGCTCCTCCTGGGATCGGAGGGAAAAAGAGAGATGAAGACAGGGACAGTTGAGAACTCTTCCCTGCACCCTGACAGCCACCCTTCAGCAAATCCCATTCATCTCACCAAACTGCGTCCCAAACCTGTCTGCCTCTCAGCACCTCTGACCCTCACTCCTGGTCCAACCACCATCATCCTGTACCTGGACTTCTGCAGGAGTGCCCCTGGGATAATGTGCCCCATGGAGGAAGCCTCTGATGCCCGGAGAACAGAGGCAGCCTGAGCCCACCTGGGTATGACACCATCAGGAAGGCTACCTGGAGGTGGTTGATGCCTGAGCTACGTCTTTTTTTTTTTTTACCTTTTACATTTTTTGTGGAGTTGGGGTCTCACTATGTTGCCCAGGTTGGCCTCGAGCTCCTGGGCTCAAGTGATCCTCTGCCCTCAGCCTCCTAAAATGCTGGGATTACAGCCTGAGCTAAATCTTAAATGACCAGGAAGTGCGTGCTGAGCAGGCAGAGGATGGGGGGATGGAGCTGGAGAAGAGGGAGGGGAGGGGCTTGAGATGGGGGTGGGGGGTGGGGGCTGGGGGGTAGGGGGGTGGCGGGGGCACCTAAAACCCAGGCACAGGGAATAGCATGACTCAGAGGACACTCAGTGTGACCAGAGGAGCGTGTGGGCAGGGTCACTTGGCACTTTAAAGTCAGGCAGAAGAATTCAGGGTCTCCTGTGCTTCACCATGGGGCGGGGGGCATCATCAGAGGGGCAGCTGCCTGGAGAAGGTTTTACTTTTTGAGACCGAGTCTTCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGGTCTCGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTGAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTGTATTTTTTGTGGAGGCAGGGTTATGCCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCCCAGCCTAGAATGTTTTAGAGGAGTCCACGCAGGAGGCTGAAGAAACAGCCCAGGTGACAGACGGACACTGGGACAGCTGGGCCAAGAGAGGAAATAAGTTCCTTCCCTCCATCCCCCATCTCTCCCTCTCTCTTTCCCGCCTTTTCTTTCCTTCCTTCCCTATCTCCTTTCTTCCTCTTTCCTTTGCTTTCTTCCCTCTTTCCTTTTATTTCCTTCCCTCCCTCCCCCCTTTCTTCCTTCTCTCCCTCATTCCTTCTCTTCCGCCCTCAATTCTTTCCTTCCCTCCTTCCCTCTGTCCTTCCTCCCCTTTCCTATCTTTCCTTCCCTCCCTCCTTTTCTCTCCTTCCCCTCCCTCCTTCCTCTCCTCCTTTCCTTCTTCCCTCCCTCCTTTCTTCCATAGTTCACAAACACTTACTGAGAACCTTCTGCCTGCCAAGCACTAACTAGATGCCGAGTTGGCCACAATCAGTGGCCTGTGCTGTTGCAAAGCTTCCAGTTAAGGAAAACAAGGCAATCAACCCTGCCGGGTGCTTCCTGTAGGACCCTGTAGGTTGTGGGAAGTGCTGTGGGGGGAAAAAAGCAAAAACAATCCCAGGGCAGGCAAAGGAGAGGCTGCTGCTGGGAGGGGAGGGATGGACGTGCCATTTCCTTGCTGGAGGGTGGTGAGGGAAGCCGCCCTGACTGCAGGGAGGTGACAGAGGATCTTCGGGAGTGAGGGTGATCCAGGTGGAGGGAACAGCTAAAGCGAAGGCCTGCAGGGATGTGTGAGATCGGGCAGGTTTGAGGATGGGAGATGTGTGGGGAAAGGCAGGGAAGGAGGGGAGATGGGTAGAAGGTGAGGTTGGAAGCAATAAGGCCAGCTCAGGGCGGGCCTGGTGGGCCACTGTGGGGTCTTTGGCTCAGTCTGAGGAAAATGGGGCCG
|
CTGTGGTCCCAGCTACTTGGCAGGCTGGGGCAGGAGAATCACTTGAATCTGCGAGGTAGATCTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAATAAATAAATAAATAAAAATAAAAAATAAAAAACATGGAGATGGCTCAGGTATGCCGCCGTTTCTTGTTTTCACCATGCTGAAAGGACTAGAGATAGCAAAGGAAGAGAAACAAAATCGCTTTGTATAAAAAAGGGAACTGACATGATTGCTTGTATGTGGAATTGCTGGGCAGATGGACAAGTATGCATGTTCTGAGGTGTGTGTGGAAAGGTCTGCACATTGCCCTCCAAAGGCTGACCCCTTCCAGATGTATTTGCTGTACTCTCTGCCCGCCTCTGTTCTTGCCCCTACCCGCCTCTTTTCCAGCTCCACACCATCCCTCTCCCTCCCACTCTGTCTTCCCTCTCCTCTGCAAATGGCAGGGGTAGGGAAGCTGGAGCCAGGTGTAGCCCACGCACTCTCCCAGGATGGCTCCAGCCCTTGCACCCACCTCACCTGGACGAGGGAGTGGATGGAGAAGGGCAGGAAAGCCTGGGCCTTGTTGAGGATGTTGAGAACTGTGAGAGTCACAAAGGCTTTCTCTGCATTCATAGCATTCTCGGCCACCAGAGTGTGGACAGCAAACACCACCAGTGCGACCTGGGGGGTGGGGGGGACACGTGGGGCAACAGTGAGACACGCAAGCATGGATAGGGCAGCCTGGGCAAGCTGTGGTGCCTGCACGGTCCATGTGGCCCACCCGCCATGTCCGCATGTGCTTCCCTCCGTAGATCCCACTCCCAGTCCTGCTAACACATGTCCTCTCCGCAGTCATAAGCTACATAAGGCTCTCTCTAAAGACACAGCGCATTGCTAATGGTGATGAGTGCGCAGCCCCACGGCTCTAGGCATCACTAGAACCTAGGGGAGAACCTAATGCCTCTAGGTTCCAGGCATCGGGGGACAGCAGAGTTTTTGATCTTGGTAGCCCTGTTGTTCTAGACGTGGTGGAACTTGTGATTCTAGAGTCCCTTGGAAGATGACTCTAAAGTTGCAGGCAGGAGCAGCACTTGAGGGCTCTAGGTGTTGGTGCCATTTGTGGTGCTTTTTTTTTTTTTTTTGAGATGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGACTCCCAAGTAGCTGGGATTACAGGCGCCCGCCACTGCAACCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTATTGGGACGACAGGCATGAGCCACCACACCCAGCCTACGTATCAAATTTTTTAAAACTGTGGTTTAGGAAGGTTGTTCTGACAGCAATATGAAATAAATTACAGAATGGCAGGACAAGGATCACGTCCAGTGACAGGGTGGCTATGGACATCTGCTGGCCAGGATCAGGGAAGTCACTCTGACCCAGGATTCTACCTCTGCCACCCCCCTGCATCTGTACCCTCCTCCCCACATCGGTAGAAGCCTGGAACTCTCTCTGAGAGTTCAGCAGACTTTATCAGCCACTGCCACCTTTGCTAGAATAATATGATTAATTAGTTCTTGTAGAAGACAGCAGGGACCCAGAGAGAACAGGATCCAGAATGAGTGGGTTTTGATGGACGGGGTGGTAGGATCTGGGGGGCTCCACCTACCTCACCCTGCCCCCACCCCCGCACTCCTTCCCCAGTGCTGCTCAGCATAGAGACTAGAGTGACGTCACCAGAAATGTAGACACTTGGAAGGACACCAGCGACACAGAGAAGAGGAGGCCGGAGGTCCGCAAGGCGCCCAGCTCCTGGCCTCGGATGCCCAGGACTCTGTCCAGAAAGGCTCCCTCCCAGCCATGGAACTTGATGGTCTTCGAGTTCCTGTGGATAGAGCTGGTGAGCCGTGCCCGTGAGTCCTTCTGCCTCATTTGCTCCTCCTGGGATCGGAGGGAAAAAGAGAGATGAAGACAGGGACAGTTGAGAACTCTTCCCTGCACCCTGACAGCCACCCTTCAGCAAATCCCATTCATCTCACCAAACTGCGTCCCAAACCTGTCTGCCTCTCAGCACCTCTGACCCTCACTCCTGGTCCAACCACCATCATCCTGTACCTGGACTTCTGCAGGAGTGCCCCTGGGATAATGTGCCCCATGGAGGAAGCCTCTGATGCCCGGAGAACAGAGGCAGCCTGAGCCCACCTGGGTATGACACCATCAGGAAGGCTACCTGGAGGTGGTTGATGCCTGAGCTACGTCTTTTTTTTTTTTTACCTTTTACATTTTTTGTGGAGTTGGGGTCTCACTATGTTGCCCAGGTTGGCCTCGAGCTCCTGGGCTCAAGTGATCCTCTGCCCTCAGCCTCCTAAAATGCTGGGATTACAGCCTGAGCTAAATCTTAAATGACCAGGAAGTGCGTGCTGAGCAGGCAGAGGATGGGGGGATGGAGCTGGAGAAGAGGGAGGGGAGGGGCTTGAGATGGGGGTGGGGGGTGGGGGCTGGGGGGTAGGGGGGTGGCGGGGGCACCTAAAACCCAGGCACAGGGAATAGCATGACTCAGAGGACACTCAGTGTGACCAGAGGAGCGTGTGGGCAGGGTCACTTGGCACTTTAAAGTCAGGCAGAAGAATTCAGGGTCTCCTGTGCTTCACCATGGGGCGGGGGGCATCATCAGAGGGGCAGCTGCCTGGAGAAGGTTTTACTTTTTGAGACCGAGTCTTCCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGGTCTCGGCTCACTGTAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTGAGCTTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAAATTTTGTATTTTTTGTGGAGGCAGGGTTATGCCATGTTGGCCAGGCTGGTTTTGAACTCCTGACCTCAGGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCCACTGTGCCCAGCCTAGAATGTTTTAGAGGAGTCCACGCAGGAGGCTGAAGAAACAGCCCAGGTGACAGACGGACACTGGGACAGCTGGGCCAAGAGAGGAAATAAGTTCCTTCCCTCCATCCCCCATCTCTCCCTCTCTCTTTCCCGCCTTTTCTTTCCTTCCTTCCCTATCTCCTTTCTTCCTCTTTCCTTTGCTTTCTTCCCTCTTTCCTTTTATTTCCTTCCCTCCCTCCCCCCTTTCTTCCTTCTCTCCCTCATTCCTTCTCTTCCGCCCTCAATTCTTTCCTTCCCTCCTTCCCTCTGTCCTTCCTCCCCTTTCCTATCTTTCCTTCCCTCCCTCCTTTTCTCTCCTTCCCCTCCCTCCTTCCTCTCCTCCTTTCCTTCTTCCCTCCCTCCTTTCTTCCATAGTTCACAAACACTTACTGAGAACCTTCTGCCTGCCAAGCACTAACTAGATGCCGAGTTGGCCACAATCAGTGGCCTGTGCTGTTGCAAAGCTTCCAGTTAAGGAAAACAAGGCAATCAACCCTGCCGGGTGCTTCCTGTAGGACCCTGTAGGTTGTGGGAAGTGCTGTGGGGGGAAAAAAGCAAAAACAATCCCAGGGCAGGCAAAGGAGAGGCTGCTGCTGGGAGGGGAGGGATGGACGTGCCATTTCCTTGCTGGAGGGTGGTGAGGGAAGCCGCCCTGACTGCAGGGAGGTGACAGAGGATCTTCGGGAGTGAGGGTGATCCAGGTGGAGGGAACAGCTAAAGCGAAGGCCTGCAGGGATGTGTGAGATCGGGCAGGTTTGAGGATGGGAGATGTGTGGGGAAAGGCAGGGAAGGAGGGGAGATGGGTAGAAGGTGAGGTTGGAAGCAATAAGGCCAGCTCAGGGCGGGCCTGGTGGGCCACTGTGGGGTCTTTGGCTCAGTCTGAGGAAAATGGGGCCG
|
Task1_train_22431
|
Here is a genetic alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
ATAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAAGTTGTGCCATTGCACCAAAGCCTGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATCAAAAGGATACTATTTCACGACATATGAAAATGATATGCACTTCAAATGTCAGCATCCATAAATAGAGTTTTATTGGAGGAATACCATGCCTGTTTGCTTAGTATGGTCTACAGCCACTTCTGCACTCCAAGGGCAGAGATGAATATTTGCAGGAGAGATGGTGTGGCCTCCAGTGTAAAAAGCATCTACTGTCTTATCCTTTATGGAAAAGTAACTAATGATAATATTACAAATACCTACAGGGTGCAGTTGTGTGCCCGGCACCCTTTTAAGTGCTTTCTACATATGGGCTCGTTTAATGCCTCAGCCCCTCTGGGGCAGGAGTGCTACTGTTAATTATGATCCTCACGTTGGAGACAAGAACAGGAGGCACAGAGAGAGTAGGGTCCTTGCACACAGATTCACAACTGATAAGTGGTCAGAAGGAGGATTTGAGCCTAGGCAGTTCCCGATACAGAGTCTAATTTTATTTTTACTTTTATTTATTTGTTGGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATTATCTCAGCTCACTGCAACTTCCACCTCCAAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGGATGGGGTTATAGGCACCCACCACTATGCCCGGCTAATTTTTGTATCTTTCAGTAGAGACGGGGTTGGCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCACCTACCTCACCCCCCAAATTGCTGAGATTATAGGCATGAGCCACTGTGCCTGGCCCAGAGTCTGATTTTAATTTAAAAAAAGAAAATCCTATACCACAACGTTAAAGGAATGAAGTTGGAAAGTAAATGTTTTGTTTGTTTTGTTTGGTTGTTTCCTGATGGCTACTTTGTGTTTTTTGAACACTAAGTAGCAATTTTTCCCCCTAAAATGTTCTCCTCTTGTGTTTTGTGGACAGTGGCTATGGTGGTGCCTCAGGGTTACTGGTAACTTCAAAACATGGTTAACTTGCCTACTGGGTACCCTAATAGCACATGGGGAAGTATCAACGTCATCATCATCATCTTTCTACAGAGGAAACTGAGGCCCAGAGAGGGTGAACTTCCTGCCCAAGGTCAAGTGAAGGTCATCCTTATTGAGGACTTTTCCCATCGTATCAGACAATAGTAGGCAAATTGAGACAGGATTGGAGGAGGAGGAGAAGGAGGAGATGGGGGTGGAAGGGGAGGAGAAAAAGGAGGAGAGGAAGAAGAAAGGGAAGAGAAGGAGAGGGAAGAGCAGAGGGAAGAGAGGGAGGACGGTAGAGGAGAAGAAGGGAGAAGGGAAGAAGTGGGAGGGAAGATGACAGGGAGCAGAAAGGAAGAAGAAGGTGGAGCAGGAGAGAGGAAGAGGAGGAGGAGGGGGAAGGAGGAAAAGGAAGGGGTGCAGGAAGAGGAGGGGGTGCGTGGGCAGAAGGTGGGAGAGATGCAGGAGGAGGGAGGGTGCAGGGAGGGGTGCAAGAGGAGGGGGGCAGGAGGAGGAGGCTGGGGCAGAGGGAGAGGGGAGGAAGCCTTATGAGCTTCTACACCAGGAATGGAATCCAGGGTGATGAAGGCAGAACAAGGGTAAAACCTTTCATGTGCCTCTCTGACACCAACCTGGTTCTCCCACAGCCTCAGACTTGCCCTAACCCTGGGGTCACAGCGGACCTCTTCCAGCCTCTTGAATGCTAAGTCAGGAGGAGGAAGGGTGGGAGGGGGAAGGAGGAGGGGGAGAAGGAGGGGGTGGGGGACTCCGTTCAAATCCCGTCTTCCTCCTCTGGCATACCTGCCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCTGGACAGAGCCAGGACCTGGCGGGTGGGCAGAAGGAGAGAAGTAAAGTGGGGAGGCCGGGGCAGAGGGATGCCCCAGGTGGCTTCTCCACCCACTGAGCCCCACCTCACACGTCTGCGAGGTGGGTGAGTAAAGTCTCTTAGGCCAACCTCTCAGGGCTCTTTGAGGATCCACAGAGATGACAAAAATGAAAATCCTCCAAGATCCCTAAAGCACGGGAGGCATAATAATGAATAACATGCACGAAAACACCAGATTAACACAGATAACGGTGGTCATCTGCCCAGTGCTCACCATGTCGCAGGCACTGTGCTAAATGAACAGCCTTATCCTTTCCCGGGGTGCTCACAGCCATGAATGGTACCAAGCAGGCACTACCATATTCATTCCCTCTAATGCCAGGCCAGGTGCAGTGGCCTCTGCCTGTAATCCCGCCACTCTGGGAGGCTGAGGTGGGAGGATTGCTTGATCCCAGGAGTTCGAAACCAGCCCGCGCGACATAGTAAGACCCAAGCTCTACAAAATACTTTAAAAAATTAGCCAGGGGGCCGGGTGCGGTGCCTCACGTCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGGTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCAAGCCATTGCATTCCAGTCTGGGCAACAAGAGCAAAATCCATTTCGGGGGGGAAAAAAGAAAAAATTAGCCAGGCATGGTTGTGGTGCGCCTGTGGTCCTAGCTAGCTACTGGGGAGGCTGAGGTGGGAGGATTAATTGAGTACAGGAGGTTGAGGCTGCAGTGAGCCATGTTGGTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTGTCTTTAAAAAAAATTCTATGGATAAATTGCTCTCTATTATTCTCTCACCAAGGAAAATACCACTTCCAGTTAAATTAAGACATGTAAGAGACATCTCGATTTTGGAAGTATTAGAGTGAAAAAAAAATGTGAGACGAGAATCAATGAAATGAACATTTACTAACCCCATTCTATGGCTAAAGAAACTGAGGCAGAGAGAAGTTGAGCAACTTGCCCAAAGTCACAGGCCTTGTAAGCTCCTACACAAGGAATGGAATCCAGGGTGACGAAGGCATGACAAGGGTGAGACCTTTCATGTGCTTCTGTGACACCAACCTGGTTCTCTGGCAGCCTCACATCTGCCTTAACCCTGGGGTCACAGTGGACCTCTTCCAGCCTGTTGAATGCTAAATTCCAAATGCAGCCCTCCCTTTGTGACTGCGTGAGGGTGTGAAGAAGTGATCCAGGAATGACTGGACATAGAAATTCTCCACTTAGCAAGTCTTTGAAGAGTGCTCACTGTGTGACTCACACTGAGCTGGGAACTGAAAATACAGCTGTGAACAACAGAGATGAGGCTTGCTCTCCCGGGCCTGGAGTTTGAGGTGGGGAACAAGGCTCTATAATAAAGATTTATATAACTGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTGCTTGAGGCCGGGAGTTCGAGATCAGCCTGGCCAATATGGCAAAACCCCATCTCTAGTAAAAATACAAAAATTAACTGGGCATGCTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGGTGAGGCAGGACAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCGCTGCACTACAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATAAGACAAAACAAAAATATTTCTAAAACTCATGCTTTAATGGCAGTTATGATGAGTAACATAAAAAAGTAGCCCAGGCTGAGCGCGTTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACC
|
ATAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAAGTTGTGCCATTGCACCAAAGCCTGGGCAACACAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAATCAAAAGGATACTATTTCACGACATATGAAAATGATATGCACTTCAAATGTCAGCATCCATAAATAGAGTTTTATTGGAGGAATACCATGCCTGTTTGCTTAGTATGGTCTACAGCCACTTCTGCACTCCAAGGGCAGAGATGAATATTTGCAGGAGAGATGGTGTGGCCTCCAGTGTAAAAAGCATCTACTGTCTTATCCTTTATGGAAAAGTAACTAATGATAATATTACAAATACCTACAGGGTGCAGTTGTGTGCCCGGCACCCTTTTAAGTGCTTTCTACATATGGGCTCGTTTAATGCCTCAGCCCCTCTGGGGCAGGAGTGCTACTGTTAATTATGATCCTCACGTTGGAGACAAGAACAGGAGGCACAGAGAGAGTAGGGTCCTTGCACACAGATTCACAACTGATAAGTGGTCAGAAGGAGGATTTGAGCCTAGGCAGTTCCCGATACAGAGTCTAATTTTATTTTTACTTTTATTTATTTGTTGGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATTATCTCAGCTCACTGCAACTTCCACCTCCAAGGCTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTGGATGGGGTTATAGGCACCCACCACTATGCCCGGCTAATTTTTGTATCTTTCAGTAGAGACGGGGTTGGCCAGGCTGGTCTGGAACTCCTGGCCTCAAGTGATCCACCTACCTCACCCCCCAAATTGCTGAGATTATAGGCATGAGCCACTGTGCCTGGCCCAGAGTCTGATTTTAATTTAAAAAAAGAAAATCCTATACCACAACGTTAAAGGAATGAAGTTGGAAAGTAAATGTTTTGTTTGTTTTGTTTGGTTGTTTCCTGATGGCTACTTTGTGTTTTTTGAACACTAAGTAGCAATTTTTCCCCCTAAAATGTTCTCCTCTTGTGTTTTGTGGACAGTGGCTATGGTGGTGCCTCAGGGTTACTGGTAACTTCAAAACATGGTTAACTTGCCTACTGGGTACCCTAATAGCACATGGGGAAGTATCAACGTCATCATCATCATCTTTCTACAGAGGAAACTGAGGCCCAGAGAGGGTGAACTTCCTGCCCAAGGTCAAGTGAAGGTCATCCTTATTGAGGACTTTTCCCATCGTATCAGACAATAGTAGGCAAATTGAGACAGGATTGGAGGAGGAGGAGAAGGAGGAGATGGGGGTGGAAGGGGAGGAGAAAAAGGAGGAGAGGAAGAAGAAAGGGAAGAGAAGGAGAGGGAAGAGCAGAGGGAAGAGAGGGAGGACGGTAGAGGAGAAGAAGGGAGAAGGGAAGAAGTGGGAGGGAAGATGACAGGGAGCAGAAAGGAAGAAGAAGGTGGAGCAGGAGAGAGGAAGAGGAGGAGGAGGGGGAAGGAGGAAAAGGAAGGGGTGCAGGAAGAGGAGGGGGTGCGTGGGCAGAAGGTGGGAGAGATGCAGGAGGAGGGAGGGTGCAGGGAGGGGTGCAAGAGGAGGGGGGCAGGAGGAGGAGGCTGGGGCAGAGGGAGAGGGGAGGAAGCCTTATGAGCTTCTACACCAGGAATGGAATCCAGGGTGATGAAGGCAGAACAAGGGTAAAACCTTTCATGTGCCTCTCTGACACCAACCTGGTTCTCCCACAGCCTCAGACTTGCCCTAACCCTGGGGTCACAGCGGACCTCTTCCAGCCTCTTGAATGCTAAGTCAGGAGGAGGAAGGGTGGGAGGGGGAAGGAGGAGGGGGAGAAGGAGGGGGTGGGGGACTCCGTTCAAATCCCGTCTTCCTCCTCTGGCATACCTGCCAGAGATAGACGAAGCAGACCACGATCCAGACGAGAGGCAGCCACAGCCCGTTGAGGTAGAGGACGCTCTCGGTCAGCCGCTGCACGTCCACGGACACCAGATTGACCACATCACCCACCGCACTGGCCTTTCTGGAGCCGCCGGACAGAGCCAGGACCTGGCGGGTGGGCAGAAGGAGAGAAGTAAAGTGGGGAGGCCGGGGCAGAGGGATGCCCCAGGTGGCTTCTCCACCCACTGAGCCCCACCTCACACGTCTGCGAGGTGGGTGAGTAAAGTCTCTTAGGCCAACCTCTCAGGGCTCTTTGAGGATCCACAGAGATGACAAAAATGAAAATCCTCCAAGATCCCTAAAGCACGGGAGGCATAATAATGAATAACATGCACGAAAACACCAGATTAACACAGATAACGGTGGTCATCTGCCCAGTGCTCACCATGTCGCAGGCACTGTGCTAAATGAACAGCCTTATCCTTTCCCGGGGTGCTCACAGCCATGAATGGTACCAAGCAGGCACTACCATATTCATTCCCTCTAATGCCAGGCCAGGTGCAGTGGCCTCTGCCTGTAATCCCGCCACTCTGGGAGGCTGAGGTGGGAGGATTGCTTGATCCCAGGAGTTCGAAACCAGCCCGCGCGACATAGTAAGACCCAAGCTCTACAAAATACTTTAAAAAATTAGCCAGGGGGCCGGGTGCGGTGCCTCACGTCTATAATCCCAGCACTTTGGGAGGCCGAGGTGGACAGATCACCTGAGGTCAGGAGGTGGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACCAAAAATACAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAAGAGAATCGCTTAAACCCAGGAGGCAGAGGTTGCAGTGAGCCCAGATCAAGCCATTGCATTCCAGTCTGGGCAACAAGAGCAAAATCCATTTCGGGGGGGAAAAAAGAAAAAATTAGCCAGGCATGGTTGTGGTGCGCCTGTGGTCCTAGCTAGCTACTGGGGAGGCTGAGGTGGGAGGATTAATTGAGTACAGGAGGTTGAGGCTGCAGTGAGCCATGTTGGTGCCACTGCACTCTAGCCTGGGCAACAGAGCAAGACCCTGTCTTTAAAAAAAATTCTATGGATAAATTGCTCTCTATTATTCTCTCACCAAGGAAAATACCACTTCCAGTTAAATTAAGACATGTAAGAGACATCTCGATTTTGGAAGTATTAGAGTGAAAAAAAAATGTGAGACGAGAATCAATGAAATGAACATTTACTAACCCCATTCTATGGCTAAAGAAACTGAGGCAGAGAGAAGTTGAGCAACTTGCCCAAAGTCACAGGCCTTGTAAGCTCCTACACAAGGAATGGAATCCAGGGTGACGAAGGCATGACAAGGGTGAGACCTTTCATGTGCTTCTGTGACACCAACCTGGTTCTCTGGCAGCCTCACATCTGCCTTAACCCTGGGGTCACAGTGGACCTCTTCCAGCCTGTTGAATGCTAAATTCCAAATGCAGCCCTCCCTTTGTGACTGCGTGAGGGTGTGAAGAAGTGATCCAGGAATGACTGGACATAGAAATTCTCCACTTAGCAAGTCTTTGAAGAGTGCTCACTGTGTGACTCACACTGAGCTGGGAACTGAAAATACAGCTGTGAACAACAGAGATGAGGCTTGCTCTCCCGGGCCTGGAGTTTGAGGTGGGGAACAAGGCTCTATAATAAAGATTTATATAACTGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATTGCTTGAGGCCGGGAGTTCGAGATCAGCCTGGCCAATATGGCAAAACCCCATCTCTAGTAAAAATACAAAAATTAACTGGGCATGCTGGTGGGCACCTGTAATCCCAGCTATTTGGGAGGGTGAGGCAGGACAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCACCGCTGCACTACAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAATAAGACAAAACAAAAATATTTCTAAAACTCATGCTTTAATGGCAGTTATGATGAGTAACATAAAAAAGTAGCCCAGGCTGAGCGCGTTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACC
|
Task1_train_22432
|
Gene ABCC6 (ATP binding cassette subfamily C member 6), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAATAAATACATATAATACAGAGAAATAACTAAGGAAGTGAGAATGTATGGTGAGTGACTCTAATAAGCAAGGACTGAATGCGTTCTCAGCTGCTGATAACATTACTGCCCGCTCAGTGATACTGCTTTTCCTGGCTGGGAAGACCTGCCCTTGTCCCCCAGGGCTCACCTTTCTGTACACCAGGCCAGTGATGGCCGACCGCAACCTCATCTGCAGCACCTTGAGCCTGTACATGTTCTGCTGCTCAAACAGCGTTTGCAGGCAGGCTGAGAGGAACATCAGCACGGCGAGGAGGTAGCCCTTCCAGGCTGGAGGCTTGGGATCACCAATAAACTCCAGGAAAAGGCTTGCAGGGGAAGGAGGGAGAAGGTACAGCTGGTGAGAGGAGGTGCCTAAGGGTGTTGCCTTTGCCCAAACCAGTCCAGATGTGGAGGATCAGTCGGCCCAAACTAGTCCAGGTGTGGAGGATCAGTCAGTGTGGTTTTTTTTGCAATAATGGTCTCCGTTATTTCCCCCACTGTCCATACTCCTTTTCAATCTGACTGCAGCTCCTCAAGATCAAGAGGTGGAGTTTTTGTTCCCACTTGTTATAGGCTAAATTGTGTCCTCACAAAGTTTATATGTTGAAGCCCCGACCCCCAGTACCTCTGAATGTGACTGTATTTGGAAATAGGGCCTTTAAAGAGGCAATGAAGTTAAAAATGAGGTCATTAGGCTGGGCCCTAATCCAATCTGATGGGGTCCTTTTAAGAAGAGGAAATGTAGACACACAAGGAGACACCAGGGGGCGCAAACAGAGGAAAGACCATATGGGGACACAGGGAGGAGGTGGCCAACTGCAAGCCAAGGACAGAGGCCTCAGATGGAACCACCTTGCAGATACTAATCTCGAACTTCCAGCTTTGAGAATCATGATAAAATACATTTCTGTTGTTCAAGCCACTCAGTCTCAGTCTGTGATGCTTTGTTATGTCAGCTGAGCAGACACCACTTGAATCTGGGCTGGCTACAAAACCGGCTTTGGCCAACAGAGTACAGTGGAGGTAAAGCCATGCTGGCTCTGAGCCTAGGCCTCAAGAGAAAATGTGGTTTTTGGTCTATTTCTTAGAACCCTCCCAAGCACCCACATGAACAAGTCTGAGCTAGCCTTTTGGAGGATGGGGACCCACATGGAGCAGAGACAGCCATCCCAGTCTCAGATACACAACTGCAGGCACATGAGAAAACCCAGCCAAGAAAAGAACCACCACCCAGCTGAGCCCAGCCCACATTACTGACCCACATTACCATGAACTAAATAAAAGAATGTTTGTCATTTTAAGCCACTCACTTTTGGGGCATTTTACAGCAAAAACTAATTGATGCAGTCAGGTAAGAGCTTGCTTATTTGCCCTTCTGGGGGTCAGTCACTTTCTCATTAATCCATTTCCCTTCCTCAGTGTCCTTCTCACCCACCATCCAGTGTCCCGAGCACCAGACGTATAGGCAGAGGCAGGAGAGCTGAAGCCCCCTGGCCCTGGAAGGATGCCACTAAGAGACCACCCACCTTAGCAGGGCACTTGAGGTCTGGGACTCACCTGAGCAGCTTGGGGACAGTGAACCTGAAGACATCACTGATGATGAGGCTGAGGGTCCCCAGGAGGAAGGTAGAATGGAACACCTGCCAGATGGCCTTCAGCAGTGGGCGCCACTGGCTCCCTTCTTGCCGTAGGAAGGGCTCGGTCTCTGGAGCCTTCATGCCACTGCCGCCTTTCCTTTTAAATGCTATTGCCTTGTTGTGCCTGAGGGGAAGGGAGAGATTAGCTCTGGGTCCCATTTTATACTCTCAGCCGCCAGCGGCAGGGCCAGGCATTAAAGGGTTGTTTTCCCAACAGTGGAGATGGGTGGGTGTGGATCTAGCCTGGCTCCCTCACCTGTTCCTCCTTATCACCCTGAGTACCCACTTAAGAGGCAATCATGGGAGTTGGGGGGCAGGGCAGGAGGGCACTCTGAGGCCTCTTAGATGGCCATGGGAAAGCACACCTGTTGAGCACCTACTATGTGCCAGGCACTCCCCAGTCATCCTAAGACCCCCTGAGAAGCCAGGTGTTGTTCCCATTTCACAGATGAGAAAACTGGGGCTCAGAGAAGCGAACTTGCCCAAGGGCACACAGCTGAGAAGTAAAAGAACTGGAATTTGATTCCAGCTCTCTGCCTCCAGAGCCCATGCACTTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACGGCAACCTCCACTTCCCAGTTCAAGTGATTGTCCCACCTCAGCCTCTCGAGTAGCTGGGATTACAGGCAAGTGCCACCATACCCAGCTAATTTTTGTATTTTCAGTAGAGAAGGGGTTATGCCATGTTGGCCAGGTTGGTTTTGAACTCCTGACCTGAGGTGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCTGGCCTCTCATGTACTTTTCAACCTATCGTGTTGTCAACCTGGAGGAAGAACAGCACCCCGTCCCCAACACACACAATCAGCCAGCCCTTAGGTGGTTTTGAACTGGTGGAGAATCACGGCTGATGGGCATGGGGCCTGGTGCTCTAGCTCTGGGTGAAAGTGCAGACAGAAGCTCAGGCTGCCTCAAACTAATAAGATCCCCAGCCTTTGGCTATAACCAGGGGCCACAGAGAAGAGCTAAGGTGAGGGAGGGAGAGGAGGAGATGGGGGAGGCCCGAGGGCCCCTGTGAGGCAGGTCAGAAGCCCTGGGCCAGAAAGGAGAGGCTGGGGCGATGCAGCTGCTGACAGTCCGGTTGCTGTGTGGTCCTGGGCGGGGACACTGCTCCTCTCTCTGTGTGTGAGAGGATGGGTGTGGTCCCCTGCTGAGTCCCCTGTGGCTCTGACAACCTATAAGGTTATCAGTAATTTCTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTGTAGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACAACGTTAGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCACTTATCAGTAATTTCAATCCCCATTACAGATCTGTGACCCGGGGCCACGTGCTGGGATCAGCTCTTTACACGAAGGAGCTCACTGACTCCCCTGGATCCCCTTGCCAGGTGAGCATTATTAGGTTTTCCATTTTACAGAAGGGGAAGCTGAGGCTCTGAGAGATGGCGACAGCCGCCCGAGGTCACACAGCAAGGGCAGAGCAGGGATTTGAGCCTAGATCTTGATTTATGGTTTGTAAAGGGTTTCTTGTGCACTAAGGACCCCCAACCTCACCATAATAAAATAATAATAAAAAAAGAAGCATAAGAAAAACCTCTGGTGAGCTCAGGTGGCCAGACCCTTCAAGGCCAAGGTCTCTGTCCCACAT
|
AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAATAAATACATATAATACAGAGAAATAACTAAGGAAGTGAGAATGTATGGTGAGTGACTCTAATAAGCAAGGACTGAATGCGTTCTCAGCTGCTGATAACATTACTGCCCGCTCAGTGATACTGCTTTTCCTGGCTGGGAAGACCTGCCCTTGTCCCCCAGGGCTCACCTTTCTGTACACCAGGCCAGTGATGGCCGACCGCAACCTCATCTGCAGCACCTTGAGCCTGTACATGTTCTGCTGCTCAAACAGCGTTTGCAGGCAGGCTGAGAGGAACATCAGCACGGCGAGGAGGTAGCCCTTCCAGGCTGGAGGCTTGGGATCACCAATAAACTCCAGGAAAAGGCTTGCAGGGGAAGGAGGGAGAAGGTACAGCTGGTGAGAGGAGGTGCCTAAGGGTGTTGCCTTTGCCCAAACCAGTCCAGATGTGGAGGATCAGTCGGCCCAAACTAGTCCAGGTGTGGAGGATCAGTCAGTGTGGTTTTTTTTGCAATAATGGTCTCCGTTATTTCCCCCACTGTCCATACTCCTTTTCAATCTGACTGCAGCTCCTCAAGATCAAGAGGTGGAGTTTTTGTTCCCACTTGTTATAGGCTAAATTGTGTCCTCACAAAGTTTATATGTTGAAGCCCCGACCCCCAGTACCTCTGAATGTGACTGTATTTGGAAATAGGGCCTTTAAAGAGGCAATGAAGTTAAAAATGAGGTCATTAGGCTGGGCCCTAATCCAATCTGATGGGGTCCTTTTAAGAAGAGGAAATGTAGACACACAAGGAGACACCAGGGGGCGCAAACAGAGGAAAGACCATATGGGGACACAGGGAGGAGGTGGCCAACTGCAAGCCAAGGACAGAGGCCTCAGATGGAACCACCTTGCAGATACTAATCTCGAACTTCCAGCTTTGAGAATCATGATAAAATACATTTCTGTTGTTCAAGCCACTCAGTCTCAGTCTGTGATGCTTTGTTATGTCAGCTGAGCAGACACCACTTGAATCTGGGCTGGCTACAAAACCGGCTTTGGCCAACAGAGTACAGTGGAGGTAAAGCCATGCTGGCTCTGAGCCTAGGCCTCAAGAGAAAATGTGGTTTTTGGTCTATTTCTTAGAACCCTCCCAAGCACCCACATGAACAAGTCTGAGCTAGCCTTTTGGAGGATGGGGACCCACATGGAGCAGAGACAGCCATCCCAGTCTCAGATACACAACTGCAGGCACATGAGAAAACCCAGCCAAGAAAAGAACCACCACCCAGCTGAGCCCAGCCCACATTACTGACCCACATTACCATGAACTAAATAAAAGAATGTTTGTCATTTTAAGCCACTCACTTTTGGGGCATTTTACAGCAAAAACTAATTGATGCAGTCAGGTAAGAGCTTGCTTATTTGCCCTTCTGGGGGTCAGTCACTTTCTCATTAATCCATTTCCCTTCCTCAGTGTCCTTCTCACCCACCATCCAGTGTCCCGAGCACCAGACGTATAGGCAGAGGCAGGAGAGCTGAAGCCCCCTGGCCCTGGAAGGATGCCACTAAGAGACCACCCACCTTAGCAGGGCACTTGAGGTCTGGGACTCACCTGAGCAGCTTGGGGACAGTGAACCTGAAGACATCACTGATGATGAGCCTGAGGGTCCCCAGGAGGAAGGTAGAATGGAACACCTGCCAGATGGCCTTCAGCAGTGGGCGCCACTGGCTCCCTTCTTGCCGTAGGAAGGGCTCGGTCTCTGGAGCCTTCATGCCACTGCCGCCTTTCCTTTTAAATGCTATTGCCTTGTTGTGCCTGAGGGGAAGGGAGAGATTAGCTCTGGGTCCCATTTTATACTCTCAGCCGCCAGCGGCAGGGCCAGGCATTAAAGGGTTGTTTTCCCAACAGTGGAGATGGGTGGGTGTGGATCTAGCCTGGCTCCCTCACCTGTTCCTCCTTATCACCCTGAGTACCCACTTAAGAGGCAATCATGGGAGTTGGGGGGCAGGGCAGGAGGGCACTCTGAGGCCTCTTAGATGGCCATGGGAAAGCACACCTGTTGAGCACCTACTATGTGCCAGGCACTCCCCAGTCATCCTAAGACCCCCTGAGAAGCCAGGTGTTGTTCCCATTTCACAGATGAGAAAACTGGGGCTCAGAGAAGCGAACTTGCCCAAGGGCACACAGCTGAGAAGTAAAAGAACTGGAATTTGATTCCAGCTCTCTGCCTCCAGAGCCCATGCACTTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACGGCAACCTCCACTTCCCAGTTCAAGTGATTGTCCCACCTCAGCCTCTCGAGTAGCTGGGATTACAGGCAAGTGCCACCATACCCAGCTAATTTTTGTATTTTCAGTAGAGAAGGGGTTATGCCATGTTGGCCAGGTTGGTTTTGAACTCCTGACCTGAGGTGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCTGGCCTCTCATGTACTTTTCAACCTATCGTGTTGTCAACCTGGAGGAAGAACAGCACCCCGTCCCCAACACACACAATCAGCCAGCCCTTAGGTGGTTTTGAACTGGTGGAGAATCACGGCTGATGGGCATGGGGCCTGGTGCTCTAGCTCTGGGTGAAAGTGCAGACAGAAGCTCAGGCTGCCTCAAACTAATAAGATCCCCAGCCTTTGGCTATAACCAGGGGCCACAGAGAAGAGCTAAGGTGAGGGAGGGAGAGGAGGAGATGGGGGAGGCCCGAGGGCCCCTGTGAGGCAGGTCAGAAGCCCTGGGCCAGAAAGGAGAGGCTGGGGCGATGCAGCTGCTGACAGTCCGGTTGCTGTGTGGTCCTGGGCGGGGACACTGCTCCTCTCTCTGTGTGTGAGAGGATGGGTGTGGTCCCCTGCTGAGTCCCCTGTGGCTCTGACAACCTATAAGGTTATCAGTAATTTCTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTGTAGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACAACGTTAGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCACTTATCAGTAATTTCAATCCCCATTACAGATCTGTGACCCGGGGCCACGTGCTGGGATCAGCTCTTTACACGAAGGAGCTCACTGACTCCCCTGGATCCCCTTGCCAGGTGAGCATTATTAGGTTTTCCATTTTACAGAAGGGGAAGCTGAGGCTCTGAGAGATGGCGACAGCCGCCCGAGGTCACACAGCAAGGGCAGAGCAGGGATTTGAGCCTAGATCTTGATTTATGGTTTGTAAAGGGTTTCTTGTGCACTAAGGACCCCCAACCTCACCATAATAAAATAATAATAAAAAAAGAAGCATAAGAAAAACCTCTGGTGAGCTCAGGTGGCCAGACCCTTCAAGGCCAAGGTCTCTGTCCCACAT
|
Task1_train_22433
|
Here is a genetic alteration in ABCC6 (ATP binding cassette subfamily C member 6) on Chromosome 16. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAATAAATACATATAATACAGAGAAATAACTAAGGAAGTGAGAATGTATGGTGAGTGACTCTAATAAGCAAGGACTGAATGCGTTCTCAGCTGCTGATAACATTACTGCCCGCTCAGTGATACTGCTTTTCCTGGCTGGGAAGACCTGCCCTTGTCCCCCAGGGCTCACCTTTCTGTACACCAGGCCAGTGATGGCCGACCGCAACCTCATCTGCAGCACCTTGAGCCTGTACATGTTCTGCTGCTCAAACAGCGTTTGCAGGCAGGCTGAGAGGAACATCAGCACGGCGAGGAGGTAGCCCTTCCAGGCTGGAGGCTTGGGATCACCAATAAACTCCAGGAAAAGGCTTGCAGGGGAAGGAGGGAGAAGGTACAGCTGGTGAGAGGAGGTGCCTAAGGGTGTTGCCTTTGCCCAAACCAGTCCAGATGTGGAGGATCAGTCGGCCCAAACTAGTCCAGGTGTGGAGGATCAGTCAGTGTGGTTTTTTTTGCAATAATGGTCTCCGTTATTTCCCCCACTGTCCATACTCCTTTTCAATCTGACTGCAGCTCCTCAAGATCAAGAGGTGGAGTTTTTGTTCCCACTTGTTATAGGCTAAATTGTGTCCTCACAAAGTTTATATGTTGAAGCCCCGACCCCCAGTACCTCTGAATGTGACTGTATTTGGAAATAGGGCCTTTAAAGAGGCAATGAAGTTAAAAATGAGGTCATTAGGCTGGGCCCTAATCCAATCTGATGGGGTCCTTTTAAGAAGAGGAAATGTAGACACACAAGGAGACACCAGGGGGCGCAAACAGAGGAAAGACCATATGGGGACACAGGGAGGAGGTGGCCAACTGCAAGCCAAGGACAGAGGCCTCAGATGGAACCACCTTGCAGATACTAATCTCGAACTTCCAGCTTTGAGAATCATGATAAAATACATTTCTGTTGTTCAAGCCACTCAGTCTCAGTCTGTGATGCTTTGTTATGTCAGCTGAGCAGACACCACTTGAATCTGGGCTGGCTACAAAACCGGCTTTGGCCAACAGAGTACAGTGGAGGTAAAGCCATGCTGGCTCTGAGCCTAGGCCTCAAGAGAAAATGTGGTTTTTGGTCTATTTCTTAGAACCCTCCCAAGCACCCACATGAACAAGTCTGAGCTAGCCTTTTGGAGGATGGGGACCCACATGGAGCAGAGACAGCCATCCCAGTCTCAGATACACAACTGCAGGCACATGAGAAAACCCAGCCAAGAAAAGAACCACCACCCAGCTGAGCCCAGCCCACATTACTGACCCACATTACCATGAACTAAATAAAAGAATGTTTGTCATTTTAAGCCACTCACTTTTGGGGCATTTTACAGCAAAAACTAATTGATGCAGTCAGGTAAGAGCTTGCTTATTTGCCCTTCTGGGGGTCAGTCACTTTCTCATTAATCCATTTCCCTTCCTCAGTGTCCTTCTCACCCACCATCCAGTGTCCCGAGCACCAGACGTATAGGCAGAGGCAGGAGAGCTGAAGCCCCCTGGCCCTGGAAGGATGCCACTAAGAGACCACCCACCTTAGCAGGGCACTTGAGGTCTGGGACTCACCTGAGCAGCTTGGGGACAGTGAACCTGAAGACATCACTGATGATGAGGCTGAGGGTCCCCAGGAGGAAGGTAGAATGGAACACCTGCCAGATGGCCTTCAGCAGTGGGCGCCACTGGCTCCCTTCTTGCCGTAGGAAGGGCTCGGTCTCTGGAGCCTTCATGCCACTGCCGCCTTTCCTTTTAAATGCTATTGCCTTGTTGTGCCTGAGGGGAAGGGAGAGATTAGCTCTGGGTCCCATTTTATACTCTCAGCCGCCAGCGGCAGGGCCAGGCATTAAAGGGTTGTTTTCCCAACAGTGGAGATGGGTGGGTGTGGATCTAGCCTGGCTCCCTCACCTGTTCCTCCTTATCACCCTGAGTACCCACTTAAGAGGCAATCATGGGAGTTGGGGGGCAGGGCAGGAGGGCACTCTGAGGCCTCTTAGATGGCCATGGGAAAGCACACCTGTTGAGCACCTACTATGTGCCAGGCACTCCCCAGTCATCCTAAGACCCCCTGAGAAGCCAGGTGTTGTTCCCATTTCACAGATGAGAAAACTGGGGCTCAGAGAAGCGAACTTGCCCAAGGGCACACAGCTGAGAAGTAAAAGAACTGGAATTTGATTCCAGCTCTCTGCCTCCAGAGCCCATGCACTTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACGGCAACCTCCACTTCCCAGTTCAAGTGATTGTCCCACCTCAGCCTCTCGAGTAGCTGGGATTACAGGCAAGTGCCACCATACCCAGCTAATTTTTGTATTTTCAGTAGAGAAGGGGTTATGCCATGTTGGCCAGGTTGGTTTTGAACTCCTGACCTGAGGTGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCTGGCCTCTCATGTACTTTTCAACCTATCGTGTTGTCAACCTGGAGGAAGAACAGCACCCCGTCCCCAACACACACAATCAGCCAGCCCTTAGGTGGTTTTGAACTGGTGGAGAATCACGGCTGATGGGCATGGGGCCTGGTGCTCTAGCTCTGGGTGAAAGTGCAGACAGAAGCTCAGGCTGCCTCAAACTAATAAGATCCCCAGCCTTTGGCTATAACCAGGGGCCACAGAGAAGAGCTAAGGTGAGGGAGGGAGAGGAGGAGATGGGGGAGGCCCGAGGGCCCCTGTGAGGCAGGTCAGAAGCCCTGGGCCAGAAAGGAGAGGCTGGGGCGATGCAGCTGCTGACAGTCCGGTTGCTGTGTGGTCCTGGGCGGGGACACTGCTCCTCTCTCTGTGTGTGAGAGGATGGGTGTGGTCCCCTGCTGAGTCCCCTGTGGCTCTGACAACCTATAAGGTTATCAGTAATTTCTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTGTAGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACAACGTTAGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCACTTATCAGTAATTTCAATCCCCATTACAGATCTGTGACCCGGGGCCACGTGCTGGGATCAGCTCTTTACACGAAGGAGCTCACTGACTCCCCTGGATCCCCTTGCCAGGTGAGCATTATTAGGTTTTCCATTTTACAGAAGGGGAAGCTGAGGCTCTGAGAGATGGCGACAGCCGCCCGAGGTCACACAGCAAGGGCAGAGCAGGGATTTGAGCCTAGATCTTGATTTATGGTTTGTAAAGGGTTTCTTGTGCACTAAGGACCCCCAACCTCACCATAATAAAATAATAATAAAAAAAGAAGCATAAGAAAAACCTCTGGTGAGCTCAGGTGGCCAGACCCTTCAAGGCCAAGGTCTCTGTCCCACAT
|
AGAAGTGGTGCCTAGACAGTGAGAACAGCTGCAAAGGCCCCAGGGTGGGTGGGGGCCTGGAGTGTTTGAGGAACTGAAAGGAGACCTGTGTGGCTGGAGGAGAGTGAGCATGGGAGGAGGTGACGGGATGAGGTCAGAGACACCCTAGGGACAGATCACACAAGACCTTACAGGAATAACTAAGGAGCTGAGACAGATCACTTGAGGCTAGGAGTTCGAGACCAGCCTGACCAACATGGCAAAACCTTGTCTCTACCAAAAATATAAAAATTAGCTGGGCGTGGTGACACGTGTCTATAGTCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAATAAATACATATAATACAGAGAAATAACTAAGGAAGTGAGAATGTATGGTGAGTGACTCTAATAAGCAAGGACTGAATGCGTTCTCAGCTGCTGATAACATTACTGCCCGCTCAGTGATACTGCTTTTCCTGGCTGGGAAGACCTGCCCTTGTCCCCCAGGGCTCACCTTTCTGTACACCAGGCCAGTGATGGCCGACCGCAACCTCATCTGCAGCACCTTGAGCCTGTACATGTTCTGCTGCTCAAACAGCGTTTGCAGGCAGGCTGAGAGGAACATCAGCACGGCGAGGAGGTAGCCCTTCCAGGCTGGAGGCTTGGGATCACCAATAAACTCCAGGAAAAGGCTTGCAGGGGAAGGAGGGAGAAGGTACAGCTGGTGAGAGGAGGTGCCTAAGGGTGTTGCCTTTGCCCAAACCAGTCCAGATGTGGAGGATCAGTCGGCCCAAACTAGTCCAGGTGTGGAGGATCAGTCAGTGTGGTTTTTTTTGCAATAATGGTCTCCGTTATTTCCCCCACTGTCCATACTCCTTTTCAATCTGACTGCAGCTCCTCAAGATCAAGAGGTGGAGTTTTTGTTCCCACTTGTTATAGGCTAAATTGTGTCCTCACAAAGTTTATATGTTGAAGCCCCGACCCCCAGTACCTCTGAATGTGACTGTATTTGGAAATAGGGCCTTTAAAGAGGCAATGAAGTTAAAAATGAGGTCATTAGGCTGGGCCCTAATCCAATCTGATGGGGTCCTTTTAAGAAGAGGAAATGTAGACACACAAGGAGACACCAGGGGGCGCAAACAGAGGAAAGACCATATGGGGACACAGGGAGGAGGTGGCCAACTGCAAGCCAAGGACAGAGGCCTCAGATGGAACCACCTTGCAGATACTAATCTCGAACTTCCAGCTTTGAGAATCATGATAAAATACATTTCTGTTGTTCAAGCCACTCAGTCTCAGTCTGTGATGCTTTGTTATGTCAGCTGAGCAGACACCACTTGAATCTGGGCTGGCTACAAAACCGGCTTTGGCCAACAGAGTACAGTGGAGGTAAAGCCATGCTGGCTCTGAGCCTAGGCCTCAAGAGAAAATGTGGTTTTTGGTCTATTTCTTAGAACCCTCCCAAGCACCCACATGAACAAGTCTGAGCTAGCCTTTTGGAGGATGGGGACCCACATGGAGCAGAGACAGCCATCCCAGTCTCAGATACACAACTGCAGGCACATGAGAAAACCCAGCCAAGAAAAGAACCACCACCCAGCTGAGCCCAGCCCACATTACTGACCCACATTACCATGAACTAAATAAAAGAATGTTTGTCATTTTAAGCCACTCACTTTTGGGGCATTTTACAGCAAAAACTAATTGATGCAGTCAGGTAAGAGCTTGCTTATTTGCCCTTCTGGGGGTCAGTCACTTTCTCATTAATCCATTTCCCTTCCTCAGTGTCCTTCTCACCCACCATCCAGTGTCCCGAGCACCAGACGTATAGGCAGAGGCAGGAGAGCTGAAGCCCCCTGGCCCTGGAAGGATGCCACTAAGAGACCACCCACCTTAGCAGGGCACTTGAGGTCTGGGACTCACCTGAGCAGCTTGGGGACAGTGAACCTGAAGACATCACTGATGATGAGTCTGAGGGTCCCCAGGAGGAAGGTAGAATGGAACACCTGCCAGATGGCCTTCAGCAGTGGGCGCCACTGGCTCCCTTCTTGCCGTAGGAAGGGCTCGGTCTCTGGAGCCTTCATGCCACTGCCGCCTTTCCTTTTAAATGCTATTGCCTTGTTGTGCCTGAGGGGAAGGGAGAGATTAGCTCTGGGTCCCATTTTATACTCTCAGCCGCCAGCGGCAGGGCCAGGCATTAAAGGGTTGTTTTCCCAACAGTGGAGATGGGTGGGTGTGGATCTAGCCTGGCTCCCTCACCTGTTCCTCCTTATCACCCTGAGTACCCACTTAAGAGGCAATCATGGGAGTTGGGGGGCAGGGCAGGAGGGCACTCTGAGGCCTCTTAGATGGCCATGGGAAAGCACACCTGTTGAGCACCTACTATGTGCCAGGCACTCCCCAGTCATCCTAAGACCCCCTGAGAAGCCAGGTGTTGTTCCCATTTCACAGATGAGAAAACTGGGGCTCAGAGAAGCGAACTTGCCCAAGGGCACACAGCTGAGAAGTAAAAGAACTGGAATTTGATTCCAGCTCTCTGCCTCCAGAGCCCATGCACTTTTCTTTTTTCTTTTCCTTTTTTTTTTTTTGAGACGAAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACGGCAACCTCCACTTCCCAGTTCAAGTGATTGTCCCACCTCAGCCTCTCGAGTAGCTGGGATTACAGGCAAGTGCCACCATACCCAGCTAATTTTTGTATTTTCAGTAGAGAAGGGGTTATGCCATGTTGGCCAGGTTGGTTTTGAACTCCTGACCTGAGGTGATCTGCTCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCACACCTGGCCTCTCATGTACTTTTCAACCTATCGTGTTGTCAACCTGGAGGAAGAACAGCACCCCGTCCCCAACACACACAATCAGCCAGCCCTTAGGTGGTTTTGAACTGGTGGAGAATCACGGCTGATGGGCATGGGGCCTGGTGCTCTAGCTCTGGGTGAAAGTGCAGACAGAAGCTCAGGCTGCCTCAAACTAATAAGATCCCCAGCCTTTGGCTATAACCAGGGGCCACAGAGAAGAGCTAAGGTGAGGGAGGGAGAGGAGGAGATGGGGGAGGCCCGAGGGCCCCTGTGAGGCAGGTCAGAAGCCCTGGGCCAGAAAGGAGAGGCTGGGGCGATGCAGCTGCTGACAGTCCGGTTGCTGTGTGGTCCTGGGCGGGGACACTGCTCCTCTCTCTGTGTGTGAGAGGATGGGTGTGGTCCCCTGCTGAGTCCCCTGTGGCTCTGACAACCTATAAGGTTATCAGTAATTTCTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTTGTCGCCCAGGCTGGAGTGCAGTGTAGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACAACGTTAGCCAGGCTGGTCTTAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGCCCGGCCACTTATCAGTAATTTCAATCCCCATTACAGATCTGTGACCCGGGGCCACGTGCTGGGATCAGCTCTTTACACGAAGGAGCTCACTGACTCCCCTGGATCCCCTTGCCAGGTGAGCATTATTAGGTTTTCCATTTTACAGAAGGGGAAGCTGAGGCTCTGAGAGATGGCGACAGCCGCCCGAGGTCACACAGCAAGGGCAGAGCAGGGATTTGAGCCTAGATCTTGATTTATGGTTTGTAAAGGGTTTCTTGTGCACTAAGGACCCCCAACCTCACCATAATAAAATAATAATAAAAAAAGAAGCATAAGAAAAACCTCTGGTGAGCTCAGGTGGCCAGACCCTTCAAGGCCAAGGTCTCTGTCCCACAT
|
Task1_train_22434
|
This variant affects the gene ABCC6 (ATP binding cassette subfamily C member 6) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Autosomal recessive inherited pseudoxanthoma elasticum
|
TTATTTTTTTGAGATGGAATCTCACTCTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTCGGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTGACTGGGATTGCAGGCTCCCACCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGTTGGGATTATAGGCGTGAGCCACTGCGCCAGGCCACCAAGTTCCCTTTTCTAATGCAGAGCCAACTTGGGGAAGCAACCGTTCTGACATAGAAATTATTAACGTGGCTTGATTTTCCCTGAAATTATTTTTGGAGTTCTCCTATATGGCAAGTGATGCTATAGATTTTTCCTATTTTAGCAGTGATAGAGAGTTTCTTTTTAAAAACAGTTTATTCGAGTAAAAAAAGTGACTCAATTTAGTTTTTGCCCCAGTAGGACAAAAAAGCATCAAGAGTGGTCCATAAATGCTTAAGTTTGGGAAGCAGGGGCTGGACCCCCCAGTAGAGCTGTTTCGAAAACCTCTAAGCTCTTTCTACCAGTTCCACACATTCAAAGCCTGATATTTTTCATTTATTTAATAGCCATTTAGGCCGGGTGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGTGGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACGTGGTGAAACCCGGTCTCTACAAAAAACTACAAAAATTAGCTGGGCATGATGGCAGGCGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAGAGAAAATGAATAGCCCAGGCACAGTGGGTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTCAGATCAGCCTGACCAACATGGAGAAACACTGTCTCTACTAAAAATACAAAATTAGCCGAGCATAGTGGTGCATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATAGTGCCATTGTACTCCAGCCTGGGCAACAAGAACGGAACTCCATCTCAAAAGAAAAAAAAATAATTACCACTTAAACTCATTATTTGCCAGGCCCTGTTCTAAGTGCTTTACAGATCTCATCTTATTTAAGCTTCACAACCCTATGAGCTAAGTGCTACTATCAATCCCATTTTGAAGGAGTGGAGACTGAGGCACAGAGAGGTTAAGTAACTGTCCAAAGCAACACAGCTAGGAAGTGGTAGGGCCAGGATTCAAATCCATATGTCAGGTGCTACTGAGGTCTGAATGCCGTGTGGTTAGGAGAGAGCACATCCTCAAGTGCCTTGTGAGCTGGCCCTGGAGAAGCAGCTGTTTTCTCAATCTGCCTGGAACCCTCTAGAAAGTAGACACTTGCTCCTTTATCTCCTCACCCCTGGGGCTTAGCACATAGTAGGTGCCTATTAAATGTTGGTGGAATGACTGAAATCAAGTATTGGAGACAATTCTAATTACTATTAAGCACCCGCTGTGTGCAAGCACTAAGCACTTTCCGTCTCATGCAGGTTGAGTCATCCCCATTTTACAGAGGGAAAACTGAGACTCCGGAGGTTTGCGACATGGCCTGCTAACAGGCAGAGCCGGGATTCAAATCAAGATCTCACTCCAGTGAGTGAATGGGAACAGGATGCAGATGGTAGACACTGAACACGAAGAAGAAAGCACTGAGGCTGGGATGAAGAAAGACTTGCTGGCCTTTGTAAGCACAGGGGAAGGGCCATGGCTGGGAATCAGAGCAGCAAATGCAGGCGGGTGAGGCACCACCCCAACCCTTCCGTGCGACTTTACTTACCCAGAAACCCACCAGAACGTGGCTTTGGAGGGGAAGGCTGCCCCAGTCTCTGGACAGGGGTTCTGCAACAGACAAAAATGGAGAAGGGAAGTATGTGGCAAGGGTAGGAAGACAGGACGAACTGTGTATTTTTTTTTTTTTCGAGACAGGGTTTCGCTCTGTTGCCCAGGCCAGAGTACAGCGGTGTGATCTTGGCTCACTACTACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAAGAGCTGGGATGACAGGTGTGCGCCACCACACACAGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAAGTGATCTGCCTATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACACCCAGCCCTGACGGTGTATTTAGTACTGAAAGTAAACATCGAGGTGCCCTGTCTCCTTGCCAGGGGTGTAGACCAGTGAGCTTGGTGCTTCCCAGCAGGCAGCGTAAAAAGAGGTTGGGCCACAGGCCTGACAATGTCCACAAGGTAAGAAATAACAGTGGCTCAGAAGAACAACTATGATTATACTGAAACCAAAACCTTGCTTTGCTTCTCAAAAGGAAGGACACTGCATAACGAAGAAATTAGATCCTTGACAATATCCCTCGGCAAATGTTGTGAAGACAGACCTGTCGTGCGATTTTTGTCAGGTGCTCCAGGAAGATTACAACAGTCTGTACTCTTTACCAATAAGGCGTGAAGGTGCCCATTTCACCACGTTTTTGCCATCACAGCTTATTAATTTTTAAATTTTGTTGCTACTCTGGTAGGTACAAAAAAGATTCCTATGATAGTTTTAACTATTCTCAAGCCTTCGAGCAATTTTTTTTTTTTTTTTTTTGAATACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGCAGCCTTTATCTCTTGGATTCAAGCAATCCTCCTGCTTTAGTCTCCACAGAGCTACTCTGTAGTGGGACTACAGGCATGCACCACCACACTAGGCTATTTTTAAAAACCTTTTTGTAGAGATGGGGTCTCACTACATTGCCTAGTCTGATCTAGAACACCTGGGCACAAACAATCCTCCTTCCTCGGTCTCCCAAAGTGTTGAGATTACAGGCATGATCCACTGCATCTGGCCCCATTTGAACATCTGTTTATATGATGTCAGATCAGTCTCTTCCACAAAAGAATTGTTTCTTGATTTCACAGACTGCTTCACTGTTACCTATTGTAAATCTCTCAATCTCTCATGAGCTTCTTCTATGGAGCACTTACCCCAAGGGTAATTTTCTTTTTCCTTCTTTTTTTTTTTTTTTTTTTTTGGTGGAGTTCCGCTCTTGTTGCCCAGGCTGGAGTGCAAATGCACAGTCTTGGCTCCCTGCAACCTCCACATCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTAATTTTAGAAGAGATGAGGCTTTACCATGTTGGCCAGGCTGGCTTTGAACTCTCGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGACCATCCAATTTTCAACATATTTGTTTAATTTTGTGACCAGTGTCTGGTTCCCCTGCTTGACCAGTAGCTACGTGAGAACAGAAACTCTATCTGCTTGTTCACCATAGATCCTTATGCCCTTGCTAGGGCATAGCGGGGTTTGGCAAACTATGACCAAATCTGGCCCACTGCCTGTTTCTGCAAATAGTGTTATTGCAACACAGCCATGCAATTTGTTGACATATTCTGCTTTTGCGTTCAATGGCAGAGTTGAGTAATTGCCACTGAGATCACTGTATGGCTCACAGAGTCCAAAATATTTTCTCTTGGCCCATATAGAAAAAGTCTGCCAACTGTGGCATCGAGTAGAAATGTGGTACACTTTTTGCTGAATGGCTAAATGAATA
|
TTATTTTTTTGAGATGGAATCTCACTCTGTTGCTCAGGCTGGAGTGCACTGGTGTGATCTCGGCTCACCGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTGACTGGGATTGCAGGCTCCCACCACCACACCTGGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAAATCCTGACCTCAGGTGATCCACCTGCCTCAGCCTCCCAAGGTGTTGGGATTATAGGCGTGAGCCACTGCGCCAGGCCACCAAGTTCCCTTTTCTAATGCAGAGCCAACTTGGGGAAGCAACCGTTCTGACATAGAAATTATTAACGTGGCTTGATTTTCCCTGAAATTATTTTTGGAGTTCTCCTATATGGCAAGTGATGCTATAGATTTTTCCTATTTTAGCAGTGATAGAGAGTTTCTTTTTAAAAACAGTTTATTCGAGTAAAAAAAGTGACTCAATTTAGTTTTTGCCCCAGTAGGACAAAAAAGCATCAAGAGTGGTCCATAAATGCTTAAGTTTGGGAAGCAGGGGCTGGACCCCCCAGTAGAGCTGTTTCGAAAACCTCTAAGCTCTTTCTACCAGTTCCACACATTCAAAGCCTGATATTTTTCATTTATTTAATAGCCATTTAGGCCGGGTGCGGTGGCTTATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGTGGGGTAGATCACTTGAGGTCAGGAGTTTGAGACCAGCTTGGCCAACGTGGTGAAACCCGGTCTCTACAAAAAACTACAAAAATTAGCTGGGCATGATGGCAGGCGCCTGTAATCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTGCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAAAAAAAAGAGAAAATGAATAGCCCAGGCACAGTGGGTCACACCTGTAATCCCAGCACTTTGGGAAGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTTCAGATCAGCCTGACCAACATGGAGAAACACTGTCTCTACTAAAAATACAAAATTAGCCGAGCATAGTGGTGCATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATAGTGCCATTGTACTCCAGCCTGGGCAACAAGAACGGAACTCCATCTCAAAAGAAAAAAAAATAATTACCACTTAAACTCATTATTTGCCAGGCCCTGTTCTAAGTGCTTTACAGATCTCATCTTATTTAAGCTTCACAACCCTATGAGCTAAGTGCTACTATCAATCCCATTTTGAAGGAGTGGAGACTGAGGCACAGAGAGGTTAAGTAACTGTCCAAAGCAACACAGCTAGGAAGTGGTAGGGCCAGGATTCAAATCCATATGTCAGGTGCTACTGAGGTCTGAATGCCGTGTGGTTAGGAGAGAGCACATCCTCAAGTGCCTTGTGAGCTGGCCCTGGAGAAGCAGCTGTTTTCTCAATCTGCCTGGAACCCTCTAGAAAGTAGACACTTGCTCCTTTATCTCCTCACCCCTGGGGCTTAGCACATAGTAGGTGCCTATTAAATGTTGGTGGAATGACTGAAATCAAGTATTGGAGACAATTCTAATTACTATTAAGCACCCGCTGTGTGCAAGCACTAAGCACTTTCCGTCTCATGCAGGTTGAGTCATCCCCATTTTACAGAGGGAAAACTGAGACTCCGGAGGTTTGCGACATGGCCTGCTAACAGGCAGAGCCGGGATTCAAATCAAGATCTCACTCCAGTGAGTGAATGGGAACAGGATGCAGATGGTAGACACTGAACACGAAGAAGAAAGCACTGAGGCTGGGATGAAGAAAGACTTGCTGGCCTTTGTAAGCACAGGGGAAGGGCCATGGCTGGGAATCAGAGCAGCAAATGCAGGCGGGTGAGGCACCACCCCAACCCTTCCGTGCGACTTTACTTACCCAGAAACACACCAGAACGTGGCTTTGGAGGGGAAGGCTGCCCCAGTCTCTGGACAGGGGTTCTGCAACAGACAAAAATGGAGAAGGGAAGTATGTGGCAAGGGTAGGAAGACAGGACGAACTGTGTATTTTTTTTTTTTTCGAGACAGGGTTTCGCTCTGTTGCCCAGGCCAGAGTACAGCGGTGTGATCTTGGCTCACTACTACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAAGAGCTGGGATGACAGGTGTGCGCCACCACACACAGCTAATTTTTTGTGTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTAACCTCAAGTGATCTGCCTATCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTACACCCAGCCCTGACGGTGTATTTAGTACTGAAAGTAAACATCGAGGTGCCCTGTCTCCTTGCCAGGGGTGTAGACCAGTGAGCTTGGTGCTTCCCAGCAGGCAGCGTAAAAAGAGGTTGGGCCACAGGCCTGACAATGTCCACAAGGTAAGAAATAACAGTGGCTCAGAAGAACAACTATGATTATACTGAAACCAAAACCTTGCTTTGCTTCTCAAAAGGAAGGACACTGCATAACGAAGAAATTAGATCCTTGACAATATCCCTCGGCAAATGTTGTGAAGACAGACCTGTCGTGCGATTTTTGTCAGGTGCTCCAGGAAGATTACAACAGTCTGTACTCTTTACCAATAAGGCGTGAAGGTGCCCATTTCACCACGTTTTTGCCATCACAGCTTATTAATTTTTAAATTTTGTTGCTACTCTGGTAGGTACAAAAAAGATTCCTATGATAGTTTTAACTATTCTCAAGCCTTCGAGCAATTTTTTTTTTTTTTTTTTTGAATACAGGGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTGCAATCATAGCTCACTGCAGCCTTTATCTCTTGGATTCAAGCAATCCTCCTGCTTTAGTCTCCACAGAGCTACTCTGTAGTGGGACTACAGGCATGCACCACCACACTAGGCTATTTTTAAAAACCTTTTTGTAGAGATGGGGTCTCACTACATTGCCTAGTCTGATCTAGAACACCTGGGCACAAACAATCCTCCTTCCTCGGTCTCCCAAAGTGTTGAGATTACAGGCATGATCCACTGCATCTGGCCCCATTTGAACATCTGTTTATATGATGTCAGATCAGTCTCTTCCACAAAAGAATTGTTTCTTGATTTCACAGACTGCTTCACTGTTACCTATTGTAAATCTCTCAATCTCTCATGAGCTTCTTCTATGGAGCACTTACCCCAAGGGTAATTTTCTTTTTCCTTCTTTTTTTTTTTTTTTTTTTTTGGTGGAGTTCCGCTCTTGTTGCCCAGGCTGGAGTGCAAATGCACAGTCTTGGCTCCCTGCAACCTCCACATCCCGGATTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGTAATTTTAGAAGAGATGAGGCTTTACCATGTTGGCCAGGCTGGCTTTGAACTCTCGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGACCATCCAATTTTCAACATATTTGTTTAATTTTGTGACCAGTGTCTGGTTCCCCTGCTTGACCAGTAGCTACGTGAGAACAGAAACTCTATCTGCTTGTTCACCATAGATCCTTATGCCCTTGCTAGGGCATAGCGGGGTTTGGCAAACTATGACCAAATCTGGCCCACTGCCTGTTTCTGCAAATAGTGTTATTGCAACACAGCCATGCAATTTGTTGACATATTCTGCTTTTGCGTTCAATGGCAGAGTTGAGTAATTGCCACTGAGATCACTGTATGGCTCACAGAGTCCAAAATATTTTCTCTTGGCCCATATAGAAAAAGTCTGCCAACTGTGGCATCGAGTAGAAATGTGGTACACTTTTTGCTGAATGGCTAAATGAATA
|
Task1_train_22435
|
An alteration has been detected in LOC102723692, XYLT1 (uncharacterized LOC102723692| xylosyltransferase 1) on Chromosome 16. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Desbuquois dysplasia 2
|
GAGCACAGCTTAGCACTGTAGAGAGTTAGACCACCTGAATTCAAATCCTCATTTGGCTACCGTCTAGCTGTGCAGGTCAAGTTACTCAAACTCTCTGGGCCTCAGCATCCTTAAAATGGGTTACTAGCATAGTGTCTAGCACATAGTGTAGGCTGCTCTTTGATTATTATCACCAGCCCCTTGTTACCAGGAACCCATCTAGGGGCAGAACAAACTCCTTTCTCTGCCTGCGATTCCGACCATAGCTGGATCTTCTAACAAACAGGGCACGTTACCATATTATTCTTTCTCTCCAAGTTCTTCGCGCAAGAACTCTGAGTTCCTTACAGGCAGCAGTGTCTTGACTCTAGATCTTGGGGGATATTCTTAATCTCTGCTTGCTGTGAACACATGAGGCACTCCTTGTCAGAGGCTACAATGTCCCCAGGATGCCGGGCTAGGATACAAATGCTTGTGCCTGGGGGAGTGCAGGGCTCTGGGAATCAGCACGTGGAGGTTTTGTGCTCTAAGTGATGAAGATTCTCTGCGATTAGGGCAGTGAGGGACGGGTCCTCTCCAAACATGGGAATTCATTGAATAGGTCAAACAAACATTCCCCTGCAACCCTCTTTCGGCTCAGCATATCCTTTCTGCAGGGAAGATGTGAGTTTAGGCAGCCCCCTGTCTGCCAGCTTAAGGTGGCTGGAGCTGCTGTGTGGGAACCTTAAGGGGAATACGAACGACAGAAAACCTGCAGTGTACTCTGCATTCATACAGGCACAAAAACCAGGAAGGCAGCAGGGACTGCTGGAAAAAAACCCCACTTGGAACACCCCTCCATGCCTTCGTTTCCTTACCTGAACAATAAAAGTGATGTCTGCCCCAGTAAAGCCAATGCCCACACAGCCCGGCACAGAGGAGATCAAACACAAACAAACAGCATCCCGCTCCACATCAAGGGCACCTTGGCTGGGTTATGAGCCTGGCATTGTGTCCCTGCCTTCCTGTGTTAGTGGTTTGGGAAGTAGCATACCGTCTCTACACGGTGGCTCTAGTGACCTCAGAGTGATTCGCTTAACCATTCAGTGGCACTCATATTTGTGCTCTCTGCTGCTAGGTGTGGGGAGGGCTGGAGGAAGAAGCCACCATGCTGGCTTGGAGGGAGCAGAGCAGGAAGGGGTGCCCATCTTGGGGCCAAGCACTCTCAGGGCTCATGGTAAGTGGATGAGCATTCCCCACCCTCCTGCTCTGCCCTTCCCCAGAACTGTAAATTGTTAGGCTGCCCAGAGACAGCTGTAAAGGGGATAATGTTCTACCTCTTCTTACTCCTTCAAGTACACAGAACACAGTGTTTTCCCACAGAACACAGTGGTTTCCAAACCTGGCTGCTCCTCAGAAAAGTGCAATTCATTAAAAATACAAATTCGTCGATATCACTGATGAGGGTTTCTCAACCAGAGGTGCTGCTAAGCATCCTACCCATGCATGGGACAGCATGTCCCAACAGAGAATCATCCAGCCACAATGGCAAGAGTTCTGAGGTTGAAAAGCTCAGCCCTAGATATATACTTAAAAGCATATTCCTGGGTACAAATGTAACAAATATTTTGGGAGATTCTGATGAAAAGGGAATAAAGAGAAGATGATATGAGTATGGCCTTTGGAAAGTTTTTTTTAACCTTTCTGTGCCTCACAGTTTTCATATCCCTAAAATGGAATAATAATGAAAGGTCATTTGTTGTTTTTGGGTTAATGAGTCAATGTGGTTAGAACATCCCTGAAGTAAGTGCTCAATAAACACTGGCTATTGTTGATACTGTTAACTATTATTAATTATCAACAGCCAGGTTTGGGCACCATGTGATAAGATGACCTGCAGGTCTGGCCTTGGATTTCTGCAGAGGTTTGTTGGGAAGGCATCACTTAGGAGGCTGGCAGACCATGAGAAAGTCTCACCTGGAAGCGGTGGAAGTCCTGCGGCTTGAAGTCATTGGGGGAGCAGCCGCACCAGTCCACGATGTGCTTGTACTGGCACTTGCAGCCCAGCTTGCGATTCCAGTTGGTGATGCGCAGGTTGTTGTCCACCATGGTGTCGCAGTGGGGGCTGTTCTCCAGGACCGTATGGAAGAAGGACTGCAGGGGAGAGAGGGACCCAGCCTGAGACCTCTCCCAGCCTCCCACAGATGAACTGGGGTGGGAAATGGTGAACCCTTGCTCTGAGTTCATGTAAGAACTGGTTGTTTAAAAGAATGTGGCATCTCATCAGAAGCTGGGCGGCTTCCTGTACAGCTTGCAGAACTGCAAGCCAAATAAACCTCTTTTCTTTATAAATTACCAAGCCTCAGATTTTCCTTCATAGCAATGCAAAAATGTATAACACAACTACCTGACTGTCAAGGGACTCTTATGTTCTCTGCATGCATTTGAGGTCAGCTGCCCATGTGGTCCAACTCAGAGCGCAGGCGGATGCTCTGTCCAACAGACAAATCAAAGGGATTCAAGTCTGACTGACTGACTGGTGTGCTGGAATTTCACCCCTGGGGTAGGGAGACCAGATTGATGGTTGCATTAGACCCAGGGCTTCCTGCATCGCCAGACGGCAACATAGGGAAGGGAGTGGGTGGGGCTGCTTGCTGTCCATGGTACTGAACCAGGTGCCATATTTTCTCCCTAATCCCAGGATTCTTGGCCAACTGCTTTAAGGGATCTGAGAAAGAGGCCATGTTGGATCTGAAAAGAAAAACTAGAGGAGAAACAATCAATCACTGGAGTACTTGAGAGACTGCCAGAGAGTGAGAGAAAGATTTCTATAATAGACAGTCCCAGGCAAATATATTTCCTCCCTGTTCTCTCTCCCTAAGGGAAGCTGTTGGGGAATCTGTGTCTGCCCGTTACAAGTTAATGGGCACAGCCTTCTGATTTCTTCTAAACCAGTCCTCTTGAAGTGGTCTGGGAGAAGGGAGGGAAGGCAGAGATGCAGGAGGTGGGACTGAACAGAGACCCTGGAGTATATGTGCTTGTGTGTGCTGGGGCCAGGGAGGGGCAGAGAAAGCACACACACGGAGCTTTGGTCACCAGTATCGTGGTGGGCGTCTTGATTAAAAATAGCCAAACTCCCAAACAATCTCTTCTAAATGGATGGGTGGGTAAATGAGGCTCCAGCCGCCACCCCCTGCTGACCTTCCTGTGACACTAAATGACAAGCCCATGAACCTGGATTTTAAGCTTGAATTGCCTACAAGCCCAGGGAGGCATACATTCTCCAACAAGCAGTGGGAAGATGTACCCAATTACTGATTGCCCTGTGTCCTTTCATAATGATACAGAAATTCCCTGCAATATAATGGATGAGGAGGTTATCAGAATTGAGAGAAGAGGTGATTGATTTTTGCTGAAATAGGATTAAAAGCTGATTACTTAACATGTGTGCAGAATAGTAAAACCTGGCCCAGTGATGACAAGCTCATCATCCCTCTGGGTGATGGGGGCAGTCAGCCCTCCCCGGAGCTTGGCACTGCCCCAGACACAGGTGAGAGATGTGCTGGGAGTGTGGCCTGCAGAAACACACATAACCTATGTGGTCCCGGGAAGGAACAAGGGACCGTTCATGAGAAATGCCATAGACTCAATAGAAACGGAACCAGCTCTGCACTGTTCTCAAGCTGGATTGGAAATGAGGGTGCAATCAACCTGGAGGTCAGGAAGATGAATCTGGAATCCCTCAACCCAGCTCTGACCGGCAGGCAGCTAAGGGAATGTCAGTGACAATCCTTCAGAACTGGATCCCCTCCCCACTTCTAGATGGGGCTAGGACTGTTTTAGAATACTCTGGATTAATGGAGTATGACTTATGAAACCAACACCCTTTTCTTCAGGGAATAATAGAGCAATGTTCAACATGAGAAAAGGCATGCTTGGTGTAAAAAGGTGGTCATTACATGATTGGTCATTGTGAAGGATGCGTCAAAAGTTGATGTGGCGGCCGGGCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGAGAGGCTGAGGCAGGAGGACCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAG
|
GAGCACAGCTTAGCACTGTAGAGAGTTAGACCACCTGAATTCAAATCCTCATTTGGCTACCGTCTAGCTGTGCAGGTCAAGTTACTCAAACTCTCTGGGCCTCAGCATCCTTAAAATGGGTTACTAGCATAGTGTCTAGCACATAGTGTAGGCTGCTCTTTGATTATTATCACCAGCCCCTTGTTACCAGGAACCCATCTAGGGGCAGAACAAACTCCTTTCTCTGCCTGCGATTCCGACCATAGCTGGATCTTCTAACAAACAGGGCACGTTACCATATTATTCTTTCTCTCCAAGTTCTTCGCGCAAGAACTCTGAGTTCCTTACAGGCAGCAGTGTCTTGACTCTAGATCTTGGGGGATATTCTTAATCTCTGCTTGCTGTGAACACATGAGGCACTCCTTGTCAGAGGCTACAATGTCCCCAGGATGCCGGGCTAGGATACAAATGCTTGTGCCTGGGGGAGTGCAGGGCTCTGGGAATCAGCACGTGGAGGTTTTGTGCTCTAAGTGATGAAGATTCTCTGCGATTAGGGCAGTGAGGGACGGGTCCTCTCCAAACATGGGAATTCATTGAATAGGTCAAACAAACATTCCCCTGCAACCCTCTTTCGGCTCAGCATATCCTTTCTGCAGGGAAGATGTGAGTTTAGGCAGCCCCCTGTCTGCCAGCTTAAGGTGGCTGGAGCTGCTGTGTGGGAACCTTAAGGGGAATACGAACGACAGAAAACCTGCAGTGTACTCTGCATTCATACAGGCACAAAAACCAGGAAGGCAGCAGGGACTGCTGGAAAAAAACCCCACTTGGAACACCCCTCCATGCCTTCGTTTCCTTACCTGAACAATAAAAGTGATGTCTGCCCCAGTAAAGCCAATGCCCACACAGCCCGGCACAGAGGAGATCAAACACAAACAAACAGCATCCCGCTCCACATCAAGGGCACCTTGGCTGGGTTATGAGCCTGGCATTGTGTCCCTGCCTTCCTGTGTTAGTGGTTTGGGAAGTAGCATACCGTCTCTACACGGTGGCTCTAGTGACCTCAGAGTGATTCGCTTAACCATTCAGTGGCACTCATATTTGTGCTCTCTGCTGCTAGGTGTGGGGAGGGCTGGAGGAAGAAGCCACCATGCTGGCTTGGAGGGAGCAGAGCAGGAAGGGGTGCCCATCTTGGGGCCAAGCACTCTCAGGGCTCATGGTAAGTGGATGAGCATTCCCCACCCTCCTGCTCTGCCCTTCCCCAGAACTGTAAATTGTTAGGCTGCCCAGAGACAGCTGTAAAGGGGATAATGTTCTACCTCTTCTTACTCCTTCAAGTACACAGAACACAGTGTTTTCCCACAGAACACAGTGGTTTCCAAACCTGGCTGCTCCTCAGAAAAGTGCAATTCATTAAAAATACAAATTCGTCGATATCACTGATGAGGGTTTCTCAACCAGAGGTGCTGCTAAGCATCCTACCCATGCATGGGACAGCATGTCCCAACAGAGAATCATCCAGCCACAATGGCAAGAGTTCTGAGGTTGAAAAGCTCAGCCCTAGATATATACTTAAAAGCATATTCCTGGGTACAAATGTAACAAATATTTTGGGAGATTCTGATGAAAAGGGAATAAAGAGAAGATGATATGAGTATGGCCTTTGGAAAGTTTTTTTTAACCTTTCTGTGCCTCACAGTTTTCATATCCCTAAAATGGAATAATAATGAAAGGTCATTTGTTGTTTTTGGGTTAATGAGTCAATGTGGTTAGAACATCCCTGAAGTAAGTGCTCAATAAACACTGGCTATTGTTGATACTGTTAACTATTATTAATTATCAACAGCCAGGTTTGGGCACCATGTGATAAGATGACCTGCAGGTCTGGCCTTGGATTTCTGCAGAGGTTTGTTGGGAAGGCATCACTTAGGAGGCTGGCAGACCATGAGAAAGTCTCACCTGGAAGCGGTGGAAGTCCTGCGGCTTGAAGTCATTGGGGGAGCAGCCGCACCAGTCCACGATGTGCTTGTACTGGCACTTGCAGCCCAGCTTGCGATTCCAGTTGGTGATGCACAGGTTGTTGTCCACCATGGTGTCGCAGTGGGGGCTGTTCTCCAGGACCGTATGGAAGAAGGACTGCAGGGGAGAGAGGGACCCAGCCTGAGACCTCTCCCAGCCTCCCACAGATGAACTGGGGTGGGAAATGGTGAACCCTTGCTCTGAGTTCATGTAAGAACTGGTTGTTTAAAAGAATGTGGCATCTCATCAGAAGCTGGGCGGCTTCCTGTACAGCTTGCAGAACTGCAAGCCAAATAAACCTCTTTTCTTTATAAATTACCAAGCCTCAGATTTTCCTTCATAGCAATGCAAAAATGTATAACACAACTACCTGACTGTCAAGGGACTCTTATGTTCTCTGCATGCATTTGAGGTCAGCTGCCCATGTGGTCCAACTCAGAGCGCAGGCGGATGCTCTGTCCAACAGACAAATCAAAGGGATTCAAGTCTGACTGACTGACTGGTGTGCTGGAATTTCACCCCTGGGGTAGGGAGACCAGATTGATGGTTGCATTAGACCCAGGGCTTCCTGCATCGCCAGACGGCAACATAGGGAAGGGAGTGGGTGGGGCTGCTTGCTGTCCATGGTACTGAACCAGGTGCCATATTTTCTCCCTAATCCCAGGATTCTTGGCCAACTGCTTTAAGGGATCTGAGAAAGAGGCCATGTTGGATCTGAAAAGAAAAACTAGAGGAGAAACAATCAATCACTGGAGTACTTGAGAGACTGCCAGAGAGTGAGAGAAAGATTTCTATAATAGACAGTCCCAGGCAAATATATTTCCTCCCTGTTCTCTCTCCCTAAGGGAAGCTGTTGGGGAATCTGTGTCTGCCCGTTACAAGTTAATGGGCACAGCCTTCTGATTTCTTCTAAACCAGTCCTCTTGAAGTGGTCTGGGAGAAGGGAGGGAAGGCAGAGATGCAGGAGGTGGGACTGAACAGAGACCCTGGAGTATATGTGCTTGTGTGTGCTGGGGCCAGGGAGGGGCAGAGAAAGCACACACACGGAGCTTTGGTCACCAGTATCGTGGTGGGCGTCTTGATTAAAAATAGCCAAACTCCCAAACAATCTCTTCTAAATGGATGGGTGGGTAAATGAGGCTCCAGCCGCCACCCCCTGCTGACCTTCCTGTGACACTAAATGACAAGCCCATGAACCTGGATTTTAAGCTTGAATTGCCTACAAGCCCAGGGAGGCATACATTCTCCAACAAGCAGTGGGAAGATGTACCCAATTACTGATTGCCCTGTGTCCTTTCATAATGATACAGAAATTCCCTGCAATATAATGGATGAGGAGGTTATCAGAATTGAGAGAAGAGGTGATTGATTTTTGCTGAAATAGGATTAAAAGCTGATTACTTAACATGTGTGCAGAATAGTAAAACCTGGCCCAGTGATGACAAGCTCATCATCCCTCTGGGTGATGGGGGCAGTCAGCCCTCCCCGGAGCTTGGCACTGCCCCAGACACAGGTGAGAGATGTGCTGGGAGTGTGGCCTGCAGAAACACACATAACCTATGTGGTCCCGGGAAGGAACAAGGGACCGTTCATGAGAAATGCCATAGACTCAATAGAAACGGAACCAGCTCTGCACTGTTCTCAAGCTGGATTGGAAATGAGGGTGCAATCAACCTGGAGGTCAGGAAGATGAATCTGGAATCCCTCAACCCAGCTCTGACCGGCAGGCAGCTAAGGGAATGTCAGTGACAATCCTTCAGAACTGGATCCCCTCCCCACTTCTAGATGGGGCTAGGACTGTTTTAGAATACTCTGGATTAATGGAGTATGACTTATGAAACCAACACCCTTTTCTTCAGGGAATAATAGAGCAATGTTCAACATGAGAAAAGGCATGCTTGGTGTAAAAAGGTGGTCATTACATGATTGGTCATTGTGAAGGATGCGTCAAAAGTTGATGTGGCGGCCGGGCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGAGAGGCTGAGGCAGGAGGACCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAG
|
Task1_train_22436
|
Here is a mutation in XYLT1 (xylosyltransferase 1) on Chromosome 16. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Desbuquois dysplasia 2
|
CTCCCTAAGGGAAGCTGTTGGGGAATCTGTGTCTGCCCGTTACAAGTTAATGGGCACAGCCTTCTGATTTCTTCTAAACCAGTCCTCTTGAAGTGGTCTGGGAGAAGGGAGGGAAGGCAGAGATGCAGGAGGTGGGACTGAACAGAGACCCTGGAGTATATGTGCTTGTGTGTGCTGGGGCCAGGGAGGGGCAGAGAAAGCACACACACGGAGCTTTGGTCACCAGTATCGTGGTGGGCGTCTTGATTAAAAATAGCCAAACTCCCAAACAATCTCTTCTAAATGGATGGGTGGGTAAATGAGGCTCCAGCCGCCACCCCCTGCTGACCTTCCTGTGACACTAAATGACAAGCCCATGAACCTGGATTTTAAGCTTGAATTGCCTACAAGCCCAGGGAGGCATACATTCTCCAACAAGCAGTGGGAAGATGTACCCAATTACTGATTGCCCTGTGTCCTTTCATAATGATACAGAAATTCCCTGCAATATAATGGATGAGGAGGTTATCAGAATTGAGAGAAGAGGTGATTGATTTTTGCTGAAATAGGATTAAAAGCTGATTACTTAACATGTGTGCAGAATAGTAAAACCTGGCCCAGTGATGACAAGCTCATCATCCCTCTGGGTGATGGGGGCAGTCAGCCCTCCCCGGAGCTTGGCACTGCCCCAGACACAGGTGAGAGATGTGCTGGGAGTGTGGCCTGCAGAAACACACATAACCTATGTGGTCCCGGGAAGGAACAAGGGACCGTTCATGAGAAATGCCATAGACTCAATAGAAACGGAACCAGCTCTGCACTGTTCTCAAGCTGGATTGGAAATGAGGGTGCAATCAACCTGGAGGTCAGGAAGATGAATCTGGAATCCCTCAACCCAGCTCTGACCGGCAGGCAGCTAAGGGAATGTCAGTGACAATCCTTCAGAACTGGATCCCCTCCCCACTTCTAGATGGGGCTAGGACTGTTTTAGAATACTCTGGATTAATGGAGTATGACTTATGAAACCAACACCCTTTTCTTCAGGGAATAATAGAGCAATGTTCAACATGAGAAAAGGCATGCTTGGTGTAAAAAGGTGGTCATTACATGATTGGTCATTGTGAAGGATGCGTCAAAAGTTGATGTGGCGGCCGGGCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGAGAGGCTGAGGCAGGAGGACCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGCAGAATTGCTTGAACTCTGGAGGTAGAGGTTGCAGTGAGCAGAGACTGTGCCACTGCAGTCCAGCCTGGATGACAGAGGAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTGATGTGGGTGTGTCCTGAAAGGGTCAGCATATACAGTTGTGCAGGTTACACACTACATACCTTTTAGGGGTGCCATCAGCATTGTGGATGTCAGAAGGGTTTTTTAAATAACAGTTTTCTGGAAAATAGCCATAAGGTTCTTGTTCTAACAAAATCTGTGTATCATGTGATTTTTATGACCAATGAAAGCCAAGTATCTTGAGGAAGAGCTGCCTTTTCTATTTTGCACAAAGACACTGTGTGGACTGCCGGTGGTAGCACCGTGTGTCTACTCCACGCAGCCTCTGTGCAGACTGGAGGGAGACCAGGCATCCTGCTAAGACAGCAAGGATGTCTGGGTGTGTAGAGGACAATGTAGGTGGACCCAGAATCTCTTTGCCAAAAATTCAGCATCTGCTTTGCCACAAAGGCTAGAACAAGCCCCTATCTTTCTTGGGAAAATTTTCCCAGATACTCACCTCAGCAGGAAGCAGGGTGTAGGAGTAGAACTGTTTCATCTTGGTCACCAGATCGTCTGTGGAGAAGGTCACATATTCTACAAACCTCCGGTTCAGCAGGAACCAGTCCGAACCGCCATCCACGGCAATGCCCTCTGGGATCCGCCGATCTCCCAGGCGCCACATGTGAGCGTCGCACTCCAGGAAGAGCCGATCCAGGCCCTGCTTCCGAATGAACCTGGGAGGGAGAAAGCTGCCCTTAGCCCAGAGGTGTCCTGAAAGACAGAACTCCAGCCAGAGTCCAAATAAAACAACACAATCATAGCGATGATGGCAATTATTGAGTGCCTGCTGTGTGCCAGGTACTGCTCCAGGGCTCTGCGTGGAGTTTATCACTTGATCCCCACAAGTGAGGCATGTCACCGTATTTACCCCTATGACGCAGGTACTATTTGACCCCCAACTTTCATATGAGGGCACTGAGGCTTAGAGAGCCCAGGGGACTTACCCAGCACAGTCAGATGACAGTGATCATCTGCTACAGCTACTCCTTCTCTAGAGAACTTTGGCAACAACCTCCTTATGCCATAGAGGTCTTGGCAGTTTAGTGAATGCAGACCATGGACCCTTGTCTCAGAATAGTACTCTTCAATGCATACAACAAAATATACAGGGTTATGAAACAGCGAAAAATAAAAATCCACCAAAGTTCTGATATAAAGTAATGCCTGTGCTTCTTGACTCACACATTATATACAGGATTACAACATTTTTAAAATTTTTATTTTTTGAGACAGGGTCGTGTTCCGTTGCCTAGGCTGGAGAGCACTAGTGTGATCCTAGCTCCCCGCAGCCTCAAACTCCTGGGCTCCTGTGACCCTCCTGCCTCCAGCTCCTGAGTAGCTAGGACTACAGGCATGCATCACCATGTTTGGCTGATTTTTAAAATTATTTTTGTAGAGATGGGATCTTACTATGTTGCCTAGACTGGTCTTGAACTTCTGGCTTCAGGCTCCCAAAGCACTGGGATTACAGGCATGCACCGCCATGTCTGGCTGCTGCTTAAATTTTTTTGTAGAGACAGGGTCTCACGATGTTGCTTAGGCTGGCGTAAAACTCCTGGCCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCTACTGCATGGGGCCTGGATTACAAAATACATTTTAAAACACTGAATGTATGGTACTACGTGTGTTTCTTTATTAATACATTAAATAACAAGATATCATGGCAGGTCTATTAAATCCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCGGTAGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACAGTAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACCTCACCCAGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCACAGAGTGCTGGGGTTATAGGTGTAAGCCATTGCGCCTGGCCTAACTCCTGAAATTTTGAAGTAGTGGTGAGCATAAATGATATTTAGAGGTATCTGCACCAACTATAATGTGACAGGAAAATAGATGATTCCTACTGGTGACCGAGTCAGTTAGTTACTGCTAATACTACTGTGATTTGTTACCTACCTTTAGCTAGATTTCAGTTAGAATTCCATTAAAAAAGATATCATTTTCTTCTCATCCAAAATCACGAACCTCCCCTGAATTTTTCCCATGAACCCTAGATTAATAACTCCTACTGTAGTAACTATATACATATAATCATCTTGTTTAGAATTTTGCAAGGCAGGCTGGGCAGAGTTGGCATTTCCTATTTTGTAGATGCAGAAACCAAAGCTGTTCAGGTCCCAGAGCTGGTGACGTGGGCATGTTGGGAGGGTGGACAGAGCTAGAACCAAGGCTTTTGGGCCAAACGCTCAGTCCATTAGCAATTAGCATTCATTGCACACATAACCATCATTGCCATTACCATCATCACCATTTTCATTATCATCACTGTCACTGCCACCATCATCATCATCTCCATCTTCATTATCAGCACCACTATCACCATTTTCACGTATTACGTGCCAGGTACTGTGCTG
|
CTCCCTAAGGGAAGCTGTTGGGGAATCTGTGTCTGCCCGTTACAAGTTAATGGGCACAGCCTTCTGATTTCTTCTAAACCAGTCCTCTTGAAGTGGTCTGGGAGAAGGGAGGGAAGGCAGAGATGCAGGAGGTGGGACTGAACAGAGACCCTGGAGTATATGTGCTTGTGTGTGCTGGGGCCAGGGAGGGGCAGAGAAAGCACACACACGGAGCTTTGGTCACCAGTATCGTGGTGGGCGTCTTGATTAAAAATAGCCAAACTCCCAAACAATCTCTTCTAAATGGATGGGTGGGTAAATGAGGCTCCAGCCGCCACCCCCTGCTGACCTTCCTGTGACACTAAATGACAAGCCCATGAACCTGGATTTTAAGCTTGAATTGCCTACAAGCCCAGGGAGGCATACATTCTCCAACAAGCAGTGGGAAGATGTACCCAATTACTGATTGCCCTGTGTCCTTTCATAATGATACAGAAATTCCCTGCAATATAATGGATGAGGAGGTTATCAGAATTGAGAGAAGAGGTGATTGATTTTTGCTGAAATAGGATTAAAAGCTGATTACTTAACATGTGTGCAGAATAGTAAAACCTGGCCCAGTGATGACAAGCTCATCATCCCTCTGGGTGATGGGGGCAGTCAGCCCTCCCCGGAGCTTGGCACTGCCCCAGACACAGGTGAGAGATGTGCTGGGAGTGTGGCCTGCAGAAACACACATAACCTATGTGGTCCCGGGAAGGAACAAGGGACCGTTCATGAGAAATGCCATAGACTCAATAGAAACGGAACCAGCTCTGCACTGTTCTCAAGCTGGATTGGAAATGAGGGTGCAATCAACCTGGAGGTCAGGAAGATGAATCTGGAATCCCTCAACCCAGCTCTGACCGGCAGGCAGCTAAGGGAATGTCAGTGACAATCCTTCAGAACTGGATCCCCTCCCCACTTCTAGATGGGGCTAGGACTGTTTTAGAATACTCTGGATTAATGGAGTATGACTTATGAAACCAACACCCTTTTCTTCAGGGAATAATAGAGCAATGTTCAACATGAGAAAAGGCATGCTTGGTGTAAAAAGGTGGTCATTACATGATTGGTCATTGTGAAGGATGCGTCAAAAGTTGATGTGGCGGCCGGGCATGGTGGCTCATGCCTGCAATCCCAGCACTTTGAGAGGCTGAGGCAGGAGGACCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGCAGAATTGCTTGAACTCTGGAGGTAGAGGTTGCAGTGAGCAGAGACTGTGCCACTGCAGTCCAGCCTGGATGACAGAGGAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTGATGTGGGTGTGTCCTGAAAGGGTCAGCATATACAGTTGTGCAGGTTACACACTACATACCTTTTAGGGGTGCCATCAGCATTGTGGATGTCAGAAGGGTTTTTTAAATAACAGTTTTCTGGAAAATAGCCATAAGGTTCTTGTTCTAACAAAATCTGTGTATCATGTGATTTTTATGACCAATGAAAGCCAAGTATCTTGAGGAAGAGCTGCCTTTTCTATTTTGCACAAAGACACTGTGTGGACTGCCGGTGGTAGCACCGTGTGTCTACTCCACGCAGCCTCTGTGCAGACTGGAGGGAGACCAGGCATCCTGCTAAGACAGCAAGGATGTCTGGGTGTGTAGAGGACAATGTAGGTGGACCCAGAATCTCTTTGCCAAAAATTCAGCATCTGCTTTGCCACAAAGGCTAGAACAAGCCCCTATCTTTCTTGGGAAAATTTTCCCAGATACTCACCTCAGCAGGAAGCAGGGTGTAGGAGTAGAACTGTTTCATCTTGGTCACCAGATCGTCTGTGGAGAAGGTCACATATTCTACAAACCTCCGGTTCAGCAGGAACCAGTCCGAACCGCCATCCACGGCAATGCCCTCTGGGATCCGCCAATCTCCCAGGCGCCACATGTGAGCGTCGCACTCCAGGAAGAGCCGATCCAGGCCCTGCTTCCGAATGAACCTGGGAGGGAGAAAGCTGCCCTTAGCCCAGAGGTGTCCTGAAAGACAGAACTCCAGCCAGAGTCCAAATAAAACAACACAATCATAGCGATGATGGCAATTATTGAGTGCCTGCTGTGTGCCAGGTACTGCTCCAGGGCTCTGCGTGGAGTTTATCACTTGATCCCCACAAGTGAGGCATGTCACCGTATTTACCCCTATGACGCAGGTACTATTTGACCCCCAACTTTCATATGAGGGCACTGAGGCTTAGAGAGCCCAGGGGACTTACCCAGCACAGTCAGATGACAGTGATCATCTGCTACAGCTACTCCTTCTCTAGAGAACTTTGGCAACAACCTCCTTATGCCATAGAGGTCTTGGCAGTTTAGTGAATGCAGACCATGGACCCTTGTCTCAGAATAGTACTCTTCAATGCATACAACAAAATATACAGGGTTATGAAACAGCGAAAAATAAAAATCCACCAAAGTTCTGATATAAAGTAATGCCTGTGCTTCTTGACTCACACATTATATACAGGATTACAACATTTTTAAAATTTTTATTTTTTGAGACAGGGTCGTGTTCCGTTGCCTAGGCTGGAGAGCACTAGTGTGATCCTAGCTCCCCGCAGCCTCAAACTCCTGGGCTCCTGTGACCCTCCTGCCTCCAGCTCCTGAGTAGCTAGGACTACAGGCATGCATCACCATGTTTGGCTGATTTTTAAAATTATTTTTGTAGAGATGGGATCTTACTATGTTGCCTAGACTGGTCTTGAACTTCTGGCTTCAGGCTCCCAAAGCACTGGGATTACAGGCATGCACCGCCATGTCTGGCTGCTGCTTAAATTTTTTTGTAGAGACAGGGTCTCACGATGTTGCTTAGGCTGGCGTAAAACTCCTGGCCTCAAGCAATCCTCCCACCTTGGCCTCTCAAAGTGCTGGGATTATAGGTGTGAGCTACTGCATGGGGCCTGGATTACAAAATACATTTTAAAACACTGAATGTATGGTACTACGTGTGTTTCTTTATTAATACATTAAATAACAAGATATCATGGCAGGTCTATTAAATCCTGTAATTTTTTTTTTTTTTTTTTTTGAGACAGGGTCTCACTCGGTAGCTCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACAGTAACCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACACACCACCTCACCCAGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCACAGAGTGCTGGGGTTATAGGTGTAAGCCATTGCGCCTGGCCTAACTCCTGAAATTTTGAAGTAGTGGTGAGCATAAATGATATTTAGAGGTATCTGCACCAACTATAATGTGACAGGAAAATAGATGATTCCTACTGGTGACCGAGTCAGTTAGTTACTGCTAATACTACTGTGATTTGTTACCTACCTTTAGCTAGATTTCAGTTAGAATTCCATTAAAAAAGATATCATTTTCTTCTCATCCAAAATCACGAACCTCCCCTGAATTTTTCCCATGAACCCTAGATTAATAACTCCTACTGTAGTAACTATATACATATAATCATCTTGTTTAGAATTTTGCAAGGCAGGCTGGGCAGAGTTGGCATTTCCTATTTTGTAGATGCAGAAACCAAAGCTGTTCAGGTCCCAGAGCTGGTGACGTGGGCATGTTGGGAGGGTGGACAGAGCTAGAACCAAGGCTTTTGGGCCAAACGCTCAGTCCATTAGCAATTAGCATTCATTGCACACATAACCATCATTGCCATTACCATCATCACCATTTTCATTATCATCACTGTCACTGCCACCATCATCATCATCTCCATCTTCATTATCAGCACCACTATCACCATTTTCACGTATTACGTGCCAGGTACTGTGCTG
|
Task1_train_22437
|
A variant has been detected on Chromosome 16 in COQ7 (coenzyme Q7, hydroxylase). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Primary coenzyme Q10 deficiency 8
|
GATTTCGCAGTTCAGGAATGACTTTAGACAATATCAGTCGGGCAGCTGTGGATCGAATAATCCGGGTGGATCATGCAGGCGAATATGGAGCAAACCGCATCTATGCCGGGCAGATGGCTGTCCTGGGTCGGACCAGCGTCGGGCCAGTCATTCAGGTGGGTGCTTCTTCATCTCCCTCACCCTGGTCTACTGAATGGGCAGATCCAAAGGACTTCAAGTAATGAATCATGGGAGGTCAAGCGTTCCCTAGGGAGATGCCATTGTCTCCAGGAGAGCGAAGGTTGGTTCTTGGTGGAGATGGGGAGCAAAAAGCATATTGTTCTTTTTATGGATAAAGCACAGAGAGACATCTAGTACATAGACAGGTATGCGGTATATCTTTGGTATCAGTACTCCATGGCGGGGGCAGGCAGTAATGAAAAAAGGTTAAGAATCGCTCAGCACAGCAGTCAACTGTGCTGAAATGTTGCAGCCCTGCCCCCTACCGTGCCAGAGAGGTATTGTATCCCAAGAGGCTATGGGAGGACCTGAAATTTGTAGTTACACAGACCTGGTTCACATTTTGGCTCTCTCCCACCTCCTACCTGTGCGACCTTGAGGATGGCACAGGACTTCTCTGGGTTTCCATTTCCGTATCTGCAAAATGGCCTCATAATGGCCTGGGTTTGGGTAAGGAACCGGGTCTGGCCCATAAAGGTCAAGTTAGTACAAGTTAAATGGCCTGCCCTGAACCCTTGGGCAAGCTACTTAGCCTCTCTGTGCTTCAGTTTGTTGTGTATACTGGCGCAGTCATAGTGTGTCCTTCACAGGGATTGTGTGGATTGAATGAATTGCTTGCATGAAGCTATTTGATGGCCCCTGGCACTTAGGACGTGCCATCTAAGTGTTAGCTGCAGCTAGCATTCTCCCTTTTTCCTCTGATGTAAATAATATTCAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAATGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCTTGGGCAATGTGATGAGACTCCGTCTCTACGAAAAATACAAAAATTAGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGTGGCGGGTGGATCACCTGAGGTTAGGAGTTTGAGATCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAACAAATCAGCCAGGCATGGTGGTGCATGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGGGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAACAAAAAAAACCGCACACACACCACAAAATTAGCCAGGTGTAGTGGCATGTGACTGTAATCCCAGCTAATTTGAGAGGCCGAGGTGGGAGGATCGCTTGATCCTGGAGGTTGAGGCTGCGGTGAGCCATGAGCTTGCTACTGCACTACAGTCTGGGTGACAGAGTGAGACCCTGTCTGGAAACAAACAAACCACAACAACAACAAGATGATGCTATTCTAGTAATCTGGAAGGAAATTACACAACAGCCAATGTTCTGCCTTCCTGATTTTGAAATGGGTTAAACATGTCATTTCTTATGTGTGTAGACCCTTGTCATTTACTGGGCACATTGTGGGCCTGAGAGACTTCTGCTGCAACCATGGCTCATGGCAGTCTTAACTGGAATTGAGATAATAGACTGTTTTGTATTCTTGGTGCTCTCTTCTCTTTGTCACAGATTCCTTTAGTCTGATGTTTTACTGTTTCCATTGACGTTTTGAGGGGAATGGGGGAGACAGCAGTTCCATCATTTTCTCCGTTTCTGCTTTGCTCCCTGTATGCCGCTTGGATGAGTGGGAGGCCTCTATGGAATGCTTGCATGTCTTTATTTTTATGTTTCTTGCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCAACAGTTCTGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGTACGTGTCTCTCTAGAAGAGCTTATGCAAGCTTGGGGATCTAGGATGATTAAATCCTTCAGGTATCATGTTCACAATTCTTGCTGTGTCCTCTTATGACCTCATTCTGTTTACTTCATATTTTTCCGAGGTTAAATTGACTGCCTTTTTTTGTGTGTGGTTAAATTTATTTAAGATAGAATCTTAATGTCAGTACTTTAAAAAAAAAGGCCGGGCGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGAACAACATGGTGAAACCCCCGACTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCCAGAGAATCGCTTGAACCTGGGAGCTGGAGGTTGCAGTGAGCCAAGATTGGCCCACTGCACTCCAGCGTGGGTGACAGAGCGACACTCTGTCTCAAAAAAAAACCAAAACAAAACAAAAAAAAACAAACCAGAGCCAGGGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGTATAGTCGTAGCTCACTGAAACCTCAAACTCTTGGGTTCAAGTGATCCTCCCACCTAAGCCTCTGAGCCTGAGTATCTTGGACTACTGGCGCATGCCACCACGCACAGCTCTATTTTTTTTGTAGAGATGGGGTCTCGTTATGTTACCTAGGCTGGTCTCAAACTGCTGGCCTCAAGCCATCTTCCCTCTCTGGCCTCCCCGAAGTGCTAGGATTACAGGCGTGAGGCACTGCACCTGGCCTAATGTCAGTATTATAAATAGAAAATACAGTAAAAATAAACAACAGAGAAAAAAAGCTAGTAGAATTCAGTTGCAGCCAAATACTGTTCCCTGACAACGATTCTCAACCTGAGATCTGTTCACTCTTTTAAAAAACGGAGAAGAATAAATGGTATAAAAGATCAAAGATATACTCACCCCAAATGCTGACTTCTCTTGGCCACGGTCAGGATAAAACAGCATTGAAAAGAGAATGGTTTTTCTTAACTGTGTAATTCCAGGTTTAACACTGGGATCCAGTGTCTCCTAAAACAGTGGTTCTCCCTCAGGGTGAGTTTGTCCCCCTGATGAGGACATGTGGCAATACCTAGGGACATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACCCACGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGCTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTGACTAATTTTTGTATTTTTAGTAGAGACGGTTTCACCATGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGATCCATTGTGCCCAGCCCTCGGGACAGTTTTGATTGTCAAAACTTAGTTGGCACTGCTGGCATCTAGTTGGTAGAGGTCAGAGATGCAGTTAAATATCCCACCATGCATGGGACAGCCCCTGTCACAAAGAATGACCCGGCCCGATGTCTGGTGCAGAGGTTAAGAAGCCCTGGCCACAGATGGTCTCCATTACCGGTCATATCTGTCTCTTACTTTTCTGGTCTGGGTTTAACAATCCCAGGGGCGGGGACCGCCTTGCTCGGGAAGGAAGGTGCCATGGCCTGCACCGTGGCGGTGGAAGAGAGCATAGCACATCACTACAACAACCAGATCAGGACGCTGATGGAGGAGGACCCTGAAAAATACGAGGAACTTCTTCAGGTATTTATCCGTGCTCTAGAACGGGGCTGCTCAAGGAGGAAAATGGCAGATAGCAATTGGGTAAGAGGAAAACATGTTAGAGATTGTTAGGGGATGATGGGGGTTTAGAGGCTCAGGTCAGTGCCTCAGTTTAAAGGTGAGCAAACTGAGGAACAGAGAGGTGAACCCGTCTGCCCTGGCCATACAG
|
GATTTCGCAGTTCAGGAATGACTTTAGACAATATCAGTCGGGCAGCTGTGGATCGAATAATCCGGGTGGATCATGCAGGCGAATATGGAGCAAACCGCATCTATGCCGGGCAGATGGCTGTCCTGGGTCGGACCAGCGTCGGGCCAGTCATTCAGGTGGGTGCTTCTTCATCTCCCTCACCCTGGTCTACTGAATGGGCAGATCCAAAGGACTTCAAGTAATGAATCATGGGAGGTCAAGCGTTCCCTAGGGAGATGCCATTGTCTCCAGGAGAGCGAAGGTTGGTTCTTGGTGGAGATGGGGAGCAAAAAGCATATTGTTCTTTTTATGGATAAAGCACAGAGAGACATCTAGTACATAGACAGGTATGCGGTATATCTTTGGTATCAGTACTCCATGGCGGGGGCAGGCAGTAATGAAAAAAGGTTAAGAATCGCTCAGCACAGCAGTCAACTGTGCTGAAATGTTGCAGCCCTGCCCCCTACCGTGCCAGAGAGGTATTGTATCCCAAGAGGCTATGGGAGGACCTGAAATTTGTAGTTACACAGACCTGGTTCACATTTTGGCTCTCTCCCACCTCCTACCTGTGCGACCTTGAGGATGGCACAGGACTTCTCTGGGTTTCCATTTCCGTATCTGCAAAATGGCCTCATAATGGCCTGGGTTTGGGTAAGGAACCGGGTCTGGCCCATAAAGGTCAAGTTAGTACAAGTTAAATGGCCTGCCCTGAACCCTTGGGCAAGCTACTTAGCCTCTCTGTGCTTCAGTTTGTTGTGTATACTGGCGCAGTCATAGTGTGTCCTTCACAGGGATTGTGTGGATTGAATGAATTGCTTGCATGAAGCTATTTGATGGCCCCTGGCACTTAGGACGTGCCATCTAAGTGTTAGCTGCAGCTAGCATTCTCCCTTTTTCCTCTGATGTAAATAATATTCAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCAATGGATCGCTTGAGCCCAGGAGTTTGAGACCAGCTTGGGCAATGTGATGAGACTCCGTCTCTACGAAAAATACAAAAATTAGCTGGGTGCAATGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGTGGCGGGTGGATCACCTGAGGTTAGGAGTTTGAGATCAGCCTGGCCAACAAGGCAAAACCCTGTCTCTACTAAAAATACAAAACAAATCAGCCAGGCATGGTGGTGCATGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAGGCAAGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGGGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAACAAAAAAAACCGCACACACACCACAAAATTAGCCAGGTGTAGTGGCATGTGACTGTAATCCCAGCTAATTTGAGAGGCCGAGGTGGGAGGATCGCTTGATCCTGGAGGTTGAGGCTGCGGTGAGCCATGAGCTTGCTACTGCACTACAGTCTGGGTGACAGAGTGAGACCCTGTCTGGAAACAAACAAACCACAACAACAACAAGATGATGCTATTCTAGTAATCTGGAAGGAAATTACACAACAGCCAATGTTCTGCCTTCCTGATTTTGAAATGGGTTAAACATGTCATTTCTTATGTGTGTAGACCCTTGTCATTTACTGGGCACATTGTGGGCCTGAGAGACTTCTGCTGCAACCATGGCTCATGGCAGTCTTAACTGGAATTGAGATAATAGACTGTTTTGTATTCTTGGTGCTCTCTTCTCTTTGTCACAGATTCCTTTAGTCTGATGTTTTACTGTTTCCATTGACGTTTTGAGGGGAATGGGGGAGACAGCAGTTCCATCATTTTCTCCGTTTCTGCTTTGCTCCCTGTATGCCGCTTGGATGAGTGGGAGGCCTCTATGGAATGCTTGCATGTCTTTATTTTTATGTTTCTTGCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCAACAGTTCCGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGTACGTGTCTCTCTAGAAGAGCTTATGCAAGCTTGGGGATCTAGGATGATTAAATCCTTCAGGTATCATGTTCACAATTCTTGCTGTGTCCTCTTATGACCTCATTCTGTTTACTTCATATTTTTCCGAGGTTAAATTGACTGCCTTTTTTTGTGTGTGGTTAAATTTATTTAAGATAGAATCTTAATGTCAGTACTTTAAAAAAAAAGGCCGGGCGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGAACAACATGGTGAAACCCCCGACTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCCAGAGAATCGCTTGAACCTGGGAGCTGGAGGTTGCAGTGAGCCAAGATTGGCCCACTGCACTCCAGCGTGGGTGACAGAGCGACACTCTGTCTCAAAAAAAAACCAAAACAAAACAAAAAAAAACAAACCAGAGCCAGGGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGTATAGTCGTAGCTCACTGAAACCTCAAACTCTTGGGTTCAAGTGATCCTCCCACCTAAGCCTCTGAGCCTGAGTATCTTGGACTACTGGCGCATGCCACCACGCACAGCTCTATTTTTTTTGTAGAGATGGGGTCTCGTTATGTTACCTAGGCTGGTCTCAAACTGCTGGCCTCAAGCCATCTTCCCTCTCTGGCCTCCCCGAAGTGCTAGGATTACAGGCGTGAGGCACTGCACCTGGCCTAATGTCAGTATTATAAATAGAAAATACAGTAAAAATAAACAACAGAGAAAAAAAGCTAGTAGAATTCAGTTGCAGCCAAATACTGTTCCCTGACAACGATTCTCAACCTGAGATCTGTTCACTCTTTTAAAAAACGGAGAAGAATAAATGGTATAAAAGATCAAAGATATACTCACCCCAAATGCTGACTTCTCTTGGCCACGGTCAGGATAAAACAGCATTGAAAAGAGAATGGTTTTTCTTAACTGTGTAATTCCAGGTTTAACACTGGGATCCAGTGTCTCCTAAAACAGTGGTTCTCCCTCAGGGTGAGTTTGTCCCCCTGATGAGGACATGTGGCAATACCTAGGGACATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACCCACGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGCTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTGACTAATTTTTGTATTTTTAGTAGAGACGGTTTCACCATGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGATCCATTGTGCCCAGCCCTCGGGACAGTTTTGATTGTCAAAACTTAGTTGGCACTGCTGGCATCTAGTTGGTAGAGGTCAGAGATGCAGTTAAATATCCCACCATGCATGGGACAGCCCCTGTCACAAAGAATGACCCGGCCCGATGTCTGGTGCAGAGGTTAAGAAGCCCTGGCCACAGATGGTCTCCATTACCGGTCATATCTGTCTCTTACTTTTCTGGTCTGGGTTTAACAATCCCAGGGGCGGGGACCGCCTTGCTCGGGAAGGAAGGTGCCATGGCCTGCACCGTGGCGGTGGAAGAGAGCATAGCACATCACTACAACAACCAGATCAGGACGCTGATGGAGGAGGACCCTGAAAAATACGAGGAACTTCTTCAGGTATTTATCCGTGCTCTAGAACGGGGCTGCTCAAGGAGGAAAATGGCAGATAGCAATTGGGTAAGAGGAAAACATGTTAGAGATTGTTAGGGGATGATGGGGGTTTAGAGGCTCAGGTCAGTGCCTCAGTTTAAAGGTGAGCAAACTGAGGAACAGAGAGGTGAACCCGTCTGCCCTGGCCATACAG
|
Task1_train_22438
|
A variant was discovered on Chromosome 16, affecting COQ7 (coenzyme Q7, hydroxylase). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Primary coenzyme Q10 deficiency 8
|
TTGGTGCTCTCTTCTCTTTGTCACAGATTCCTTTAGTCTGATGTTTTACTGTTTCCATTGACGTTTTGAGGGGAATGGGGGAGACAGCAGTTCCATCATTTTCTCCGTTTCTGCTTTGCTCCCTGTATGCCGCTTGGATGAGTGGGAGGCCTCTATGGAATGCTTGCATGTCTTTATTTTTATGTTTCTTGCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCAACAGTTCTGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGTACGTGTCTCTCTAGAAGAGCTTATGCAAGCTTGGGGATCTAGGATGATTAAATCCTTCAGGTATCATGTTCACAATTCTTGCTGTGTCCTCTTATGACCTCATTCTGTTTACTTCATATTTTTCCGAGGTTAAATTGACTGCCTTTTTTTGTGTGTGGTTAAATTTATTTAAGATAGAATCTTAATGTCAGTACTTTAAAAAAAAAGGCCGGGCGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGAACAACATGGTGAAACCCCCGACTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCCAGAGAATCGCTTGAACCTGGGAGCTGGAGGTTGCAGTGAGCCAAGATTGGCCCACTGCACTCCAGCGTGGGTGACAGAGCGACACTCTGTCTCAAAAAAAAACCAAAACAAAACAAAAAAAAACAAACCAGAGCCAGGGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGTATAGTCGTAGCTCACTGAAACCTCAAACTCTTGGGTTCAAGTGATCCTCCCACCTAAGCCTCTGAGCCTGAGTATCTTGGACTACTGGCGCATGCCACCACGCACAGCTCTATTTTTTTTGTAGAGATGGGGTCTCGTTATGTTACCTAGGCTGGTCTCAAACTGCTGGCCTCAAGCCATCTTCCCTCTCTGGCCTCCCCGAAGTGCTAGGATTACAGGCGTGAGGCACTGCACCTGGCCTAATGTCAGTATTATAAATAGAAAATACAGTAAAAATAAACAACAGAGAAAAAAAGCTAGTAGAATTCAGTTGCAGCCAAATACTGTTCCCTGACAACGATTCTCAACCTGAGATCTGTTCACTCTTTTAAAAAACGGAGAAGAATAAATGGTATAAAAGATCAAAGATATACTCACCCCAAATGCTGACTTCTCTTGGCCACGGTCAGGATAAAACAGCATTGAAAAGAGAATGGTTTTTCTTAACTGTGTAATTCCAGGTTTAACACTGGGATCCAGTGTCTCCTAAAACAGTGGTTCTCCCTCAGGGTGAGTTTGTCCCCCTGATGAGGACATGTGGCAATACCTAGGGACATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACCCACGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGCTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTGACTAATTTTTGTATTTTTAGTAGAGACGGTTTCACCATGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGATCCATTGTGCCCAGCCCTCGGGACAGTTTTGATTGTCAAAACTTAGTTGGCACTGCTGGCATCTAGTTGGTAGAGGTCAGAGATGCAGTTAAATATCCCACCATGCATGGGACAGCCCCTGTCACAAAGAATGACCCGGCCCGATGTCTGGTGCAGAGGTTAAGAAGCCCTGGCCACAGATGGTCTCCATTACCGGTCATATCTGTCTCTTACTTTTCTGGTCTGGGTTTAACAATCCCAGGGGCGGGGACCGCCTTGCTCGGGAAGGAAGGTGCCATGGCCTGCACCGTGGCGGTGGAAGAGAGCATAGCACATCACTACAACAACCAGATCAGGACGCTGATGGAGGAGGACCCTGAAAAATACGAGGAACTTCTTCAGGTATTTATCCGTGCTCTAGAACGGGGCTGCTCAAGGAGGAAAATGGCAGATAGCAATTGGGTAAGAGGAAAACATGTTAGAGATTGTTAGGGGATGATGGGGGTTTAGAGGCTCAGGTCAGTGCCTCAGTTTAAAGGTGAGCAAACTGAGGAACAGAGAGGTGAACCCGTCTGCCCTGGCCATACAGCACAGACAGAGCTGGGACTAGAACCCTTGTCTCCTTTGTCTTTTTTCTTTTTATTTAGAGATGAGGTCTTGCTCCGTTGCCCAGGCCGGAGTACAGTGGCACAGTCATAGCTCACTGCATCTTCAAACTCTTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTATGGGACTACATACATAGCCACCACTCACAGCTAATTTTTTTTTTTTTTTTTTTTTTAAGAGATGGGGTCTCACTATGTTTTCCAGGCTGGTCTTGAATTTCTGAGCTCCAGTAGTCCTCTCTCCTCAGCTTCCCAAAGTGCTAGAATTATAGGCATGAACCACCACATCCGGCCAGAACCCTTGTCTCTTGAGCCCTGTCCTGTTCACTTATTTTATTTTTAATTTTTAAAATTTTTTGTAGGCACAGTCTCTCTCTATGTTGTCCAGATTGGTCTTGAGCTCCTGGGCTCAAGTGATTCTTCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACACCACCTGGTGCTGTTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAAGGCTGGAGTGCAGTGGTCTCCGCCTGCATTGCAGCCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCGGCGTCCCAGGTAGCTGGGATTACAGACATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTGCAGGCGTGAGCCACCGCGCCCGGCCCACTTCTTTATCATTGGTAGATTCTGAGCAGATGCTGTGAGCAGGAACCCTTTAGATTGAATAAATGAATAGATATCCTGAGATAATTTTCCACAGCAAATAAGGGAACTGTTTAGTTTTTTAGAGTCTAAATCTGAGGTTGGCAAACTATGGCCTGTGGCCAGCCACCTGTTTCTTTAAATAAACTTTTATTGGAACACAAGCACGTCCATTTGTTTGCATGTCTCCGGCTGCTTTTCTGGTTACAGTGGCAGAGTTGGGTAGTTGCAACAAAGTATTTACTCTCTGGCCCTTTAGAGGAAAAGCTGGCCTCCCTGTCTTAGGCCATAATAAGAGGCTTTAGCCTCCAAAATGAAATGGAACAGCAGGAGAGTTGGAAGGCTAACTTGCTTTGGTGTCTTTTTATTTAACCAGCTGATAAAGAAATTTCGGGATGAAGAGCTTGAGCACCATGACATAGGCCTCGACCATGATGCAGAATTGGTAGGGCCCTACTGTTACCTGTTCTGCTTTGGGACTCCTTATTTGGGAGGCTGAAGGGGCAGGAGGTTTCTGTTGCCAGAAAAATACATTTTAAAGTGACAGCGAAAGGGAGAGAAAACCAATGACGTTGCTTTGACAAAAAGCAAGCAAACGCATTATTGCTCCAGATTGGGAATCTCCTTTCTTGCTTTATGCCTTCTCCTTTTCCCCAGAAGCTTTTTTTTTTTTTTCCCAGACACAGTCTCACTCTGTCTCCCATGCTGGAGTGCAGTGGTGCAGTCTTAGCTCACTGCAGCCTCCTCCTTCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTTATTTTTAGTGGAGACCGAGTTTTCACTGTGTTGGCCAGGCTGGTCTCGAACTCCTG
|
TTGGTGCTCTCTTCTCTTTGTCACAGATTCCTTTAGTCTGATGTTTTACTGTTTCCATTGACGTTTTGAGGGGAATGGGGGAGACAGCAGTTCCATCATTTTCTCCGTTTCTGCTTTGCTCCCTGTATGCCGCTTGGATGAGTGGGAGGCCTCTATGGAATGCTTGCATGTCTTTATTTTTATGTTTCTTGCAGAAAATGTGGGATCAAGAAAAGGACCATTTGAAAAAGTTCAATGAGTTGATGGTTACGTTCAGGGTCCGGCCAACAGTTCTGATGCCCTTGTGGAACGTGCTGGGGTTTGCACTGGGTACGTGTCTCTCTAGAAGAGCTTATGCAAGCTTGGGGATCTAGGATGATTAAATCCTTCAGGTATCATGTTCACAATTCTTGCTGTGTCCTCTTATGACCTCATTCTGTTTACTTCATATTTTTCCGAGGTTAAATTGACTGCCTTTTTTTGTGTGTGGTTAAATTTATTTAAGATAGAATCTTAATGTCAGTACTTTAAAAAAAAAGGCCGGGCGTGATGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAGGAGTTCGAGACCAGCCTGAACAACATGGTGAAACCCCCGACTCTATTAAAAATACAAAAATTAGCCGGGCATGGTGGTGCGTGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCCAGAGAATCGCTTGAACCTGGGAGCTGGAGGTTGCAGTGAGCCAAGATTGGCCCACTGCACTCCAGCGTGGGTGACAGAGCGACACTCTGTCTCAAAAAAAAACCAAAACAAAACAAAAAAAAACAAACCAGAGCCAGGGTCTCACTCTGTTGCCCAGGCTGGAGTACAGTGGTATAGTCGTAGCTCACTGAAACCTCAAACTCTTGGGTTCAAGTGATCCTCCCACCTAAGCCTCTGAGCCTGAGTATCTTGGACTACTGGCGCATGCCACCACGCACAGCTCTATTTTTTTTGTAGAGATGGGGTCTCGTTATGTTACCTAGGCTGGTCTCAAACTGCTGGCCTCAAGCCATCTTCCCTCTCTGGCCTCCCCGAAGTGCTAGGATTACAGGCGTGAGGCACTGCACCTGGCCTAATGTCAGTATTATAAATAGAAAATACAGTAAAAATAAACAACAGAGAAAAAAAGCTAGTAGAATTCAGTTGCAGCCAAATACTGTTCCCTGACAACGATTCTCAACCTGAGATCTGTTCACTCTTTTAAAAAACGGAGAAGAATAAATGGTATAAAAGATCAAAGATATACTCACCCCAAATGCTGACTTCTCTTGGCCACGGTCAGGATAAAACAGCATTGAAAAGAGAATGGTTTTTCTTAACTGTGTAATTCCAGGTTTAACACTGGGATCCAGTGTCTCCTAAAACAGTGGTTCTCCCTCAGGGTGAGTTTGTCCCCCTGATGAGGACATGTGGCAATACCTAGGGACATTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGTTCTGTCACCCACGCTGGAGTGCAGTGGCGTGATCTTGGCTCACTGCAACCTCCACCTCCCGGCTTCAAGCGATTTTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGCCCACCACCACACTGACTAATTTTTGTATTTTTAGTAGAGACGGTTTCACCATGTTAGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCTCGGCCTCCCAAAGTGCTGGGACTATAGGCGTGATCCATTGTGCCCAGCCCTCGGGACAGTTTTGATTGTCAAAACTTAGTTGGCACTGCTGGCATCTAGTTGGTAGAGGTCAGAGATGCAGTTAAATATCCCACCATGCATGGGACAGCCCCTGTCACAAAGAATGACCCGGCCCGATGTCTGGTGCAGAGGTTAAGAAGCCCTGGCCACAGATGGTCTCCATTACCGGTCATATCTGTCTCTTACTTTTCTGGTCTGGGTTTAACAATCCCAGGGGCGGGGACCGCCTTGCTCGGGAAGGAAGGTGCCATGGCCTGCACCGTGGCGGAGGAAGAGAGCATAGCACATCACTACAACAACCAGATCAGGACGCTGATGGAGGAGGACCCTGAAAAATACGAGGAACTTCTTCAGGTATTTATCCGTGCTCTAGAACGGGGCTGCTCAAGGAGGAAAATGGCAGATAGCAATTGGGTAAGAGGAAAACATGTTAGAGATTGTTAGGGGATGATGGGGGTTTAGAGGCTCAGGTCAGTGCCTCAGTTTAAAGGTGAGCAAACTGAGGAACAGAGAGGTGAACCCGTCTGCCCTGGCCATACAGCACAGACAGAGCTGGGACTAGAACCCTTGTCTCCTTTGTCTTTTTTCTTTTTATTTAGAGATGAGGTCTTGCTCCGTTGCCCAGGCCGGAGTACAGTGGCACAGTCATAGCTCACTGCATCTTCAAACTCTTGGGTTCAAGTGATCCTCCTGCCTCAGCCTCCCGAGTAGCTATGGGACTACATACATAGCCACCACTCACAGCTAATTTTTTTTTTTTTTTTTTTTTTAAGAGATGGGGTCTCACTATGTTTTCCAGGCTGGTCTTGAATTTCTGAGCTCCAGTAGTCCTCTCTCCTCAGCTTCCCAAAGTGCTAGAATTATAGGCATGAACCACCACATCCGGCCAGAACCCTTGTCTCTTGAGCCCTGTCCTGTTCACTTATTTTATTTTTAATTTTTAAAATTTTTTGTAGGCACAGTCTCTCTCTATGTTGTCCAGATTGGTCTTGAGCTCCTGGGCTCAAGTGATTCTTCTGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACACCACCTGGTGCTGTTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCCCCAAGGCTGGAGTGCAGTGGTCTCCGCCTGCATTGCAGCCTCCGCCTCCCGGGTTCCAGCGATTCTCCTGCCTCGGCGTCCCAGGTAGCTGGGATTACAGACATGCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTGGAACTCCTGACCTCAGGTGATCCTCCTGCCTTGGCCTCCTAAAGTGCTGGGATTGCAGGCGTGAGCCACCGCGCCCGGCCCACTTCTTTATCATTGGTAGATTCTGAGCAGATGCTGTGAGCAGGAACCCTTTAGATTGAATAAATGAATAGATATCCTGAGATAATTTTCCACAGCAAATAAGGGAACTGTTTAGTTTTTTAGAGTCTAAATCTGAGGTTGGCAAACTATGGCCTGTGGCCAGCCACCTGTTTCTTTAAATAAACTTTTATTGGAACACAAGCACGTCCATTTGTTTGCATGTCTCCGGCTGCTTTTCTGGTTACAGTGGCAGAGTTGGGTAGTTGCAACAAAGTATTTACTCTCTGGCCCTTTAGAGGAAAAGCTGGCCTCCCTGTCTTAGGCCATAATAAGAGGCTTTAGCCTCCAAAATGAAATGGAACAGCAGGAGAGTTGGAAGGCTAACTTGCTTTGGTGTCTTTTTATTTAACCAGCTGATAAAGAAATTTCGGGATGAAGAGCTTGAGCACCATGACATAGGCCTCGACCATGATGCAGAATTGGTAGGGCCCTACTGTTACCTGTTCTGCTTTGGGACTCCTTATTTGGGAGGCTGAAGGGGCAGGAGGTTTCTGTTGCCAGAAAAATACATTTTAAAGTGACAGCGAAAGGGAGAGAAAACCAATGACGTTGCTTTGACAAAAAGCAAGCAAACGCATTATTGCTCCAGATTGGGAATCTCCTTTCTTGCTTTATGCCTTCTCCTTTTCCCCAGAAGCTTTTTTTTTTTTTTCCCAGACACAGTCTCACTCTGTCTCCCATGCTGGAGTGCAGTGGTGCAGTCTTAGCTCACTGCAGCCTCCTCCTTCCAGGTTCAAGCAATTCTGCCTCAGCCTCCCAAGTAGCTGGGATGACAGGTGCATGCCACCATGCCTGGCTAATTTTTGTATTTTTTATTTTTAGTGGAGACCGAGTTTTCACTGTGTTGGCCAGGCTGGTCTCGAACTCCTG
|
Task1_train_22439
|
The following genetic variant occurs in VPS35L (VPS35 endosomal protein sorting factor like) on Chromosome 16. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Ritscher-Schinzel syndrome 3
|
TACAATCCATTCAACATTATTCACCCAATGCATGTCAGTGCCCAGCACTGTCCCAGGAGCCAGAGACAGGGCGGGATTGAATGTCATCAGGGACACCATCCACATTGAGTTCCTGGAGGCGCCATTAACAGAATACAGTGTGCAGCCAGCAGACCTGGCGGTGTATTGGCAAATGCAATAGATGAAGTGCCTGTCCTCCTGGAGGTTATAGGCTAGCATGAAACAGAGAGAACCAGGAAAACCACGAGATATTGTTGGGCAGGTCATTGAAGGAATACCTAAGATCATTTCAGATAGTGAGAAGTGCTCTGTAAAAAACAACACAGAGGCTGGGCGCGGTGGCTCATGCCTTTAATCCCAGCAGTTCAGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGACCTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACAAAAAATAGAAATTCGCCAAGCGTGGTGGTATGTACCTGTAGTCCCAGCACCTCAGGAGGCTGAGGTGGAAGATCGCTTGAGCTCAGAGTCAAGGCTCCAGCGAGCTGTGATTGTGCCACTGTACTGTAGCCAGAGTGACAGAGTGAGACCCTGTCTCAGAACCCGCCCCCCCCCTAAAAAAACAGGATGATTTGTGATGAAGAGAGAGTAAGAGGACTGCAGATGGAATGTCAGGGAAGGCCTCATTAAAGAGCTAATGTGTAAGATGAGAACTGCAGGCTACCAAGGAGCCGTCTGGCCAAGCCCTGGGGCACAGACTCTAGTCAGAGAGAACGTGCCTGGCTGGAGGCCAGCACCTGGACGTGTGTGCCAGCCCCTGGTGCCACTCTGTGCCCTTTGTCCTACTGTGTGTGGGGGAGACTGGCCTCTGGGGACTGCCTCACCTATCCTTCCTCTAGCTCCCAATTTGTTCAGCCAGTAGGAGGCAGCAGCATATGCAGGGCAGGAGGAAAGCGAGGCTGGGGTATTTCTCCCCCATTCCTCCTGGGCCATGTTTTGGCGATGGCTTTGTTCCTGCAAGCAAGACTACATCTTGGGCTAGATGGCCTCTTGCCGCTGCAGGTTCCAATCATGCTGTTCCCCCTGCCGCTGCGGGTTCCAATCGTGCTGTTCTCCCCACCTTAATGTGGCTGGGGTAAGGGAAGGGGACCCGCATGGGGTGGGCTAGCAAGGCCATGGAAGGGGCTGGCCGTGCAGAGCTTCTGCACAGAGTGAGAAGTCTGGAGAGCTTTCAGCAGGGCATCCCCAGACTCACATACACCTTTTTGGAATGGAATTGAAGCTGCTTACTTTTTTACACCCCAAAACTTTTTATAGATTCAGTTTAGCATCTGAGAAACACTGTTTGCTATAAACTCTGTGACTGTCTCTCAGGTTTTGCCTCTCCCAAGAGAGCGTCCTCCATTTGGCTGTTACCGTTGTTGAGCATCCCAAAGAGTGAGGCTCTATTTAAAGTCACTGCCTCGAGTGGTGGCAGGGATCATCCGGGGGCTCACCCAGCGTAGGTGGCTTCTACCGTTCCATCTGCTACGATACCCGCGATCCTGCTTTTGTGGTTGGAACAGGGCTTCCTTTTTTTTTAACTCCCACCACCCACAGAAAAATAAGAGTGTAATTTTGGAAACAGGCCATTAAGCTGACAGGTAACTTTGCCTTCTCCTTTTTGGGATCCAAAAAGGGATTCTCAAAGCTCGTTTGCCCAGACAGGAGCGTGTTGATTCGTGGGAATCACGTTTTGTCATTTTCCTCTGTATTGTTTAACCAGGCTTGTGAGTGGGTCTTGCCTTTGTTCAGTAACTGACAACGTTAATTTCTCTACAGCTGCTGCGGGAGGATCTGGGCTTCTGTGTTGATTTTCTTTTTCCCTCCCTGCTTCATCTTTGGGATTATTTATCCTTTTTTCGGTTCTCTGCTAGGATCATCCTGAACATGGGGTCCTGTTTCTTGTTCGAGAGCTTCTCAACGTGATCCAGGACTACACCTGGGAGGACAACAGCGATGAGAAAATCCGCATCTACACCTGCGTCCTGCATCTCCTCTCCGCCATGAGCCAGGAGACGTACCTTTACCACATAGACAAAGGTAGCAGAGCCTCCCCCACCAAACCATGCTCCGCATGGATTTCATGAAAGGCAGACAGAATGCTTTCATTTTCTCTTTTATTTTTTCCTCCCTTGTATTTTAGCTTCCATGAACTTCTAGTCCAGGGTCTCACTGTATTTACCTGATCTAAGATTTACCTGGAGCAACTCTTAAGAGTACAGATTCTTGGGCCGGGTGCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAAGAGTTCCAGACCAGCCTGGCCAACAGAGCCAAACCCTGTCTCTACTAAAAAAACAAAAATTAGCCAGGCCTGATGGTGCACCCCTGTAATCCCAACTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTACAGTAAGCCAAGATGGCACCACTGTACTCCAGCCTGGGCAACAAGAGTGAAAACACCATCCCAAAAAGGAAAAAAAAGAGTACAGATTCTTCAGCCCCATCCTGCCCTTGATTGATTGATTGATTGATTGATTGATTGATTGAGACAAGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGATGTGATCTCGGCCCACTGCAGCCTTTACAGCCCAGGCTGAAGCAGTCCTCCCACCTCAGCTTCCCAAGTAGCTGGGAATACAGGCATGTGCCACTGCTCCTGGATAATTTTTTAAATTTTTTTTTGAAGACGGGGTTTCACCATGTTACGCTGGTCTCAAACGCCTGGGCTCAAGTAATCTACCCGTCTCAGCCTCCCAAAGTGTTGGGATTATAACCATGAGCCACCACACCTGGCCTTCCCTTCTTAATTTGCATCTTTAACAAGCACCTGAGATCATGTTGAACATCAGACCAGTCTGGAGAAACACTGTTTAAAAAAATAATTATAATAATTTCAACTTCTATTTTAGATTTAGGAGGTATACGTGCAGGTTTGTGACAGGGGTATATTGTGCAATGCTGAGGTTTGGGGTGCAAATGAGATAGTACCCAATAGGTAGTTTTTCAGCCCTTGTCCCCTCCCCTTCCTCCCCACTCTAGTGGTCTCCAATGTCTGTTGTTTCCATCTTTATGCCCATGGGTACCCAATGCTTGGGGCCCACTTACAAGTGAGAACATGGCGGTAGTTAGTTTTCTGTTTCTGCACTAGTTCACTTAGGATAATGGCCTCCAGTTGCACCCATGTTGCCACAAAGGCCATGATTTCATTCTTTTTTAGGGCTGCATAGTATTCCATTGTGTGTATGTACCACATTTTCTTTATCCAATCCACTGTTGATGAGCATCTAAGTTGATGCTATGTTTTTGCTATTGCGAATAGTGCTGCAGTGAACATACGTGTGCATGTGTCCTTTCAGTAGAACGATTTATTTTCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTAGTTCTGTTTTCAATTCTTTGAGAAATCTCCAAAACTGCTTTCCACAGTGGCTGAACTAATTTGCATTTCCACTGACAGAGTGTTAAGTGTTCTCTTTTCAGAGGAACCCTCTTTTGGATCAGTGTGCTACACAATAAACTGGAACAATGGCTAAATATACACATGCATGAGCTTCGTGCCAGGCCTGTTCCTTACCACAGTCTCAGGAAGGACCCTGGTGTGGGTGTTTGCAACTGCTCCTCAGATGATGCCAAGGCTCAGCAGCCCTTGTCTGGGTGCTCTGGAGGAAGGAGGTGGCCTTGATCACCTGCTACCAGACATTTTGAACTTGCTAGTACAAGTTGGGAGCAGCCTCCTCGTGTCCTGGACTTACCACAGGACATCCCAGTTCCAGGCCTTTTCCCACTGAGCCCAAGTATCCTCCTGCCTGGCGGACCCTCAGTTCTAATTTTTGGATTCCAAAAATTGGTCTTAATGTCAAAAGTGCTTTGGCCAGTAATTGTATACTTTACAGTTAAAAAACCAACTCTACACTTGCAAGTTGCAGTGAACAC
|
TACAATCCATTCAACATTATTCACCCAATGCATGTCAGTGCCCAGCACTGTCCCAGGAGCCAGAGACAGGGCGGGATTGAATGTCATCAGGGACACCATCCACATTGAGTTCCTGGAGGCGCCATTAACAGAATACAGTGTGCAGCCAGCAGACCTGGCGGTGTATTGGCAAATGCAATAGATGAAGTGCCTGTCCTCCTGGAGGTTATAGGCTAGCATGAAACAGAGAGAACCAGGAAAACCACGAGATATTGTTGGGCAGGTCATTGAAGGAATACCTAAGATCATTTCAGATAGTGAGAAGTGCTCTGTAAAAAACAACACAGAGGCTGGGCGCGGTGGCTCATGCCTTTAATCCCAGCAGTTCAGGAGGCCAAGGCAGGTGGATCGCTTGAGCCCAGGACCTTGAGACCAGCCTGGGCAACATGGCAAGACCTCATCTCTACAAAAAATAGAAATTCGCCAAGCGTGGTGGTATGTACCTGTAGTCCCAGCACCTCAGGAGGCTGAGGTGGAAGATCGCTTGAGCTCAGAGTCAAGGCTCCAGCGAGCTGTGATTGTGCCACTGTACTGTAGCCAGAGTGACAGAGTGAGACCCTGTCTCAGAACCCGCCCCCCCCCTAAAAAAACAGGATGATTTGTGATGAAGAGAGAGTAAGAGGACTGCAGATGGAATGTCAGGGAAGGCCTCATTAAAGAGCTAATGTGTAAGATGAGAACTGCAGGCTACCAAGGAGCCGTCTGGCCAAGCCCTGGGGCACAGACTCTAGTCAGAGAGAACGTGCCTGGCTGGAGGCCAGCACCTGGACGTGTGTGCCAGCCCCTGGTGCCACTCTGTGCCCTTTGTCCTACTGTGTGTGGGGGAGACTGGCCTCTGGGGACTGCCTCACCTATCCTTCCTCTAGCTCCCAATTTGTTCAGCCAGTAGGAGGCAGCAGCATATGCAGGGCAGGAGGAAAGCGAGGCTGGGGTATTTCTCCCCCATTCCTCCTGGGCCATGTTTTGGCGATGGCTTTGTTCCTGCAAGCAAGACTACATCTTGGGCTAGATGGCCTCTTGCCGCTGCAGGTTCCAATCATGCTGTTCCCCCTGCCGCTGCGGGTTCCAATCGTGCTGTTCTCCCCACCTTAATGTGGCTGGGGTAAGGGAAGGGGACCCGCATGGGGTGGGCTAGCAAGGCCATGGAAGGGGCTGGCCGTGCAGAGCTTCTGCACAGAGTGAGAAGTCTGGAGAGCTTTCAGCAGGGCATCCCCAGACTCACATACACCTTTTTGGAATGGAATTGAAGCTGCTTACTTTTTTACACCCCAAAACTTTTTATAGATTCAGTTTAGCATCTGAGAAACACTGTTTGCTATAAACTCTGTGACTGTCTCTCAGGTTTTGCCTCTCCCAAGAGAGCGTCCTCCATTTGGCTGTTACCGTTGTTGAGCATCCCAAAGAGTGAGGCTCTATTTAAAGTCACTGCCTCGAGTGGTGGCAGGGATCATCCGGGGGCTCACCCAGCGTAGGTGGCTTCTACCGTTCCATCTGCTACGATACCCGCGATCCTGCTTTTGTGGTTGGAACAGGGCTTCCTTTTTTTTTAACTCCCACCACCCACAGAAAAATAAGAGTGTAATTTTGGAAACAGGCCATTAAGCTGACAGGTAACTTTGCCTTCTCCTTTTTGGGATCCAAAAAGGGATTCTCAAAGCTCGTTTGCCCAGACAGGAGCGTGTTGATTCGTGGGAATCACGTTTTGTCATTTTCCTCTGTATTGTTTAACCAGGCTTGTGAGTGGGTCTTGCCTTTGTTCAGTAACTGACAACGTTAATTTCTCTACAGCTGCTGCGGGAGGATCTGGGCTTCTGTGTTGATTTTCTTTTTCCCTCCCTGCTTCATCTTTGGGATTATTTATCCTTTTTTCGGTTCTCTGCTAGGATCATCCTGAACATGGGGTCCTGTTTCTTGTTCGAGAGCTTCTCAACGTGATCCAGGACTACACCTGGGAGGACAACAGCGATGAGAAAATCCGCATCTACACCTGCGTCCTGCATCTCCTCTCCACCATGAGCCAGGAGACGTACCTTTACCACATAGACAAAGGTAGCAGAGCCTCCCCCACCAAACCATGCTCCGCATGGATTTCATGAAAGGCAGACAGAATGCTTTCATTTTCTCTTTTATTTTTTCCTCCCTTGTATTTTAGCTTCCATGAACTTCTAGTCCAGGGTCTCACTGTATTTACCTGATCTAAGATTTACCTGGAGCAACTCTTAAGAGTACAGATTCTTGGGCCGGGTGCAGTGGCCCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACCTGAGGTCAAGAGTTCCAGACCAGCCTGGCCAACAGAGCCAAACCCTGTCTCTACTAAAAAAACAAAAATTAGCCAGGCCTGATGGTGCACCCCTGTAATCCCAACTACTCGGGAGACTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTACAGTAAGCCAAGATGGCACCACTGTACTCCAGCCTGGGCAACAAGAGTGAAAACACCATCCCAAAAAGGAAAAAAAAGAGTACAGATTCTTCAGCCCCATCCTGCCCTTGATTGATTGATTGATTGATTGATTGATTGATTGAGACAAGGTCTCACTCTGTCCCCCAGGCTGGAGTGCAGTGATGTGATCTCGGCCCACTGCAGCCTTTACAGCCCAGGCTGAAGCAGTCCTCCCACCTCAGCTTCCCAAGTAGCTGGGAATACAGGCATGTGCCACTGCTCCTGGATAATTTTTTAAATTTTTTTTTGAAGACGGGGTTTCACCATGTTACGCTGGTCTCAAACGCCTGGGCTCAAGTAATCTACCCGTCTCAGCCTCCCAAAGTGTTGGGATTATAACCATGAGCCACCACACCTGGCCTTCCCTTCTTAATTTGCATCTTTAACAAGCACCTGAGATCATGTTGAACATCAGACCAGTCTGGAGAAACACTGTTTAAAAAAATAATTATAATAATTTCAACTTCTATTTTAGATTTAGGAGGTATACGTGCAGGTTTGTGACAGGGGTATATTGTGCAATGCTGAGGTTTGGGGTGCAAATGAGATAGTACCCAATAGGTAGTTTTTCAGCCCTTGTCCCCTCCCCTTCCTCCCCACTCTAGTGGTCTCCAATGTCTGTTGTTTCCATCTTTATGCCCATGGGTACCCAATGCTTGGGGCCCACTTACAAGTGAGAACATGGCGGTAGTTAGTTTTCTGTTTCTGCACTAGTTCACTTAGGATAATGGCCTCCAGTTGCACCCATGTTGCCACAAAGGCCATGATTTCATTCTTTTTTAGGGCTGCATAGTATTCCATTGTGTGTATGTACCACATTTTCTTTATCCAATCCACTGTTGATGAGCATCTAAGTTGATGCTATGTTTTTGCTATTGCGAATAGTGCTGCAGTGAACATACGTGTGCATGTGTCCTTTCAGTAGAACGATTTATTTTCCTTTGGGTATATACCCAGTAATGGGATTGCTGGGTCAAATGGTAGTTCTGTTTTCAATTCTTTGAGAAATCTCCAAAACTGCTTTCCACAGTGGCTGAACTAATTTGCATTTCCACTGACAGAGTGTTAAGTGTTCTCTTTTCAGAGGAACCCTCTTTTGGATCAGTGTGCTACACAATAAACTGGAACAATGGCTAAATATACACATGCATGAGCTTCGTGCCAGGCCTGTTCCTTACCACAGTCTCAGGAAGGACCCTGGTGTGGGTGTTTGCAACTGCTCCTCAGATGATGCCAAGGCTCAGCAGCCCTTGTCTGGGTGCTCTGGAGGAAGGAGGTGGCCTTGATCACCTGCTACCAGACATTTTGAACTTGCTAGTACAAGTTGGGAGCAGCCTCCTCGTGTCCTGGACTTACCACAGGACATCCCAGTTCCAGGCCTTTTCCCACTGAGCCCAAGTATCCTCCTGCCTGGCGGACCCTCAGTTCTAATTTTTGGATTCCAAAAATTGGTCTTAATGTCAAAAGTGCTTTGGCCAGTAATTGTATACTTTACAGTTAAAAAACCAACTCTACACTTGCAAGTTGCAGTGAACAC
|
Task1_train_22440
|
A variant affecting Chromosome 16, within the gene UMOD (uromodulin), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; not provided
|
GCCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGT
|
GCCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGTAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGT
|
Task1_train_22441
|
A genomic change on Chromosome 16 affects UMOD (uromodulin). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTT
|
CCCGAGCACCGGCTGTCACTCAGGTACATGAAGACCTTGTCGAAGCCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCGGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTT
|
Task1_train_22442
|
This alteration in UMOD (uromodulin) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGC
|
CCCAGACTCTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCCCTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGC
|
Task1_train_22443
|
This variant affects the gene UMOD (uromodulin) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCT
|
CTTCAGCTGGCACTTGCCCAGCGACACCTTCATGTCATTGGCCCCACATTCCAGCCTGTGCTCCAGGAGGGAGATATCTGAAACAGGTTAGGTGGGATTGAGGACGTGTGTCTATAGCTTGGGGGCCCAGCACATCCCCAGGGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCATACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCT
|
Task1_train_22444
|
The gene UMOD (uromodulin) is located on Chromosome 16, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
GGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTG
|
GGGCCAGGTCCAGCTGGCTGGGCTGACCACCATCTGGAAGTGCTCAGCATAGCCTTGAGCTGATCTGTCCCCTCCCAATGTGATGGGGACTCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACTCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTG
|
Task1_train_22445
|
A genomic change on Chromosome 16 affects UMOD (uromodulin). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
TCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTT
|
TCAAGATTGGACCTCTGACATCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGTAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTT
|
Task1_train_22446
|
This alteration in UMOD (uromodulin) on Chromosome 16 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; not provided
|
TCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATA
|
TCAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCCCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATA
|
Task1_train_22447
|
This variant affects gene UMOD (uromodulin) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATAC
|
CAATGGATACATCCACTGACCAACCACTCAGTCTTGGGTTCCCCTAAATGTGGGTTATATACCAAATGCAGGACGGTTTTGGGGGGTTTTGATGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGGAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATAC
|
Task1_train_22448
|
A variant was discovered in gene UMOD (uromodulin), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
TGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCA
|
TGTCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACCCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCA
|
Task1_train_22449
|
This is a variant in UMOD (uromodulin), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACC
|
TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCCGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACC
|
Task1_train_22450
|
A genomic change on Chromosome 16 affects UMOD (uromodulin). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACC
|
TCCCAGCATTAAATAACAATGAATACTCGTTTAAAAAAATAAAAAGGCTAGATGCGGTGGCTCATGCCTATAATCCTAGCACTTTGGGAGGCCAAGGCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCGGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACC
|
Task1_train_22451
|
A variant was discovered in gene UMOD (uromodulin), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
GCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGG
|
GCAGACAGATTACTTGAGGTCCAGAGGTCAATTTCCTTGTCTATAAAATGAGAATACGCATCTCCCACAGTAGTAATAGTAGCCAAAGGAGATGATGCAAGTTACATATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCACCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGG
|
Task1_train_22452
|
This variant affects gene UMOD (uromodulin) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
GTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTG
|
GTATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCCCAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTG
|
Task1_train_22453
|
A mutation on Chromosome 16 affecting UMOD (uromodulin) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; not provided
|
TATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGC
|
TATACATATGTAACAAACCTGCACGTTGTGCACATGTACCCTAGAACGTGAAGTATAATAAAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCATAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGC
|
Task1_train_22454
|
The variant affects gene UMOD (uromodulin), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
AAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATA
|
AAAAAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACACTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATA
|
Task1_train_22455
|
Given a variant located on Chromosome 16 and affecting UMOD (uromodulin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
AAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGG
|
AAGAAAGAAAGAAAGAAAGAAAAAGCAAGCAAGCTGCAATTACTTTCTACCCTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCCGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGG
|
Task1_train_22456
|
Consider a variant on Chromosome 16 in gene UMOD (uromodulin). Determine its clinical classification and disease relevance.
|
Pathogenic; UMOD-related disorder
|
CTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGG
|
CTTTTCACATCAAGGAGACAGTCCCAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACAGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGG
|
Task1_train_22457
|
This mutation is located in gene UMOD (uromodulin) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCA
|
CAGCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGAGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCA
|
Task1_train_22458
|
This alteration occurs within gene UMOD (uromodulin) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
GCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACA
|
GCTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGGAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACA
|
Task1_train_22459
|
This variant affects the gene UMOD (uromodulin) found on Chromosome 16. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACAT
|
CTTGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCCGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACAT
|
Task1_train_22460
|
Given a variant located on Chromosome 16 and affecting UMOD (uromodulin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
TGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTT
|
TGCCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGGCGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTT
|
Task1_train_22461
|
This gene mutation involves UMOD (uromodulin) on Chromosome 16. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTTTG
|
CCACTAATGTCTTTAATGCCATGTACTCACTAACTTCCCTCTCTCTCTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACCCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTTTG
|
Task1_train_22462
|
Given a variant located on Chromosome 16 and affecting UMOD (uromodulin), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Familial juvenile hyperuricemic nephropathy type 1
|
CTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTTTGAAGAACTCAGTCATTTGGAGCAGGAAGTAGCCAGATGGAATAGTGT
|
CTCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGTAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTTTGAAGAACTCAGTCATTTGGAGCAGGAAGTAGCCAGATGGAATAGTGT
|
Task1_train_22463
|
Gene UMOD (uromodulin) on Chromosome 16 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not provided
|
TCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCAGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTTTGAAGAACTCAGTCATTTGGAGCAGGAAGTAGCCAGATGGAATAGTGTT
|
TCTTTTTTTTGAGACGGAGTTTCTCTCTTCGGCGACAAGCCCAGGCTGGAATGCAGAGGTGCCATCTTGGCTCACTGCAACCTCCGCATCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAATTACAGGCACCTGCCACCAGACTCACCTAGTTTTTGTATTTTTAGTAGAGATGGGATTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCGCTGCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCCACTAACTTCCCTCTCAAACAGAGAGCAGGCCTCGGGCTGAGAGTTTGGGGCAGGAAACAACATCCAGCCAGAATTCTTGTTTAATTTTTTAAAAATTGAAGTATTTTTCTAATTTTTAGTATTTATTTTTTAAAATTTGTTTTATGGAAGTATTACACAACTGCTGAAATTTAGTAACCTTCTTTTCTTTTTAGTAACTTTTATTTTTACAGTTAACTTTCTGTCTAAGGTAAGCATAACTTGCCACAGACAGATGAAGTCCTGACCATCAACATTCCAAATTTGCTTAAGAGATTCAGTCCATTAGAAGAAAAACAACTTAATAAAAGTCATGGCACAGGTAACACTTGGATAAAGCAAGTGAACCAGGGTGCCAATTGTAAAGTTGGCACTTGGATGTAACTAAAATCATGACTGAAGTCTGAAAATACTATTTTCATCTTCAATAATTGTACCTATGAGAAATCTGAGGCTTGTGCCTGGCCCGGAGTACTGAGCTGATTGGTGGACTGGTCATCAGGCCTGAGCTGATTGGTGGACTGCTCACCGGGCCGGGCTTGTGTTCTGGTGCTGCAGGAATAGGGCTCAGATGGTCTTTGGCTCCCAGATGGCAGCAACGTGGGTGCCCACTGTGGTGTGGGCCTCAGAAAGAAGGCTGGGTGCGAGGAGGTCCCCAAATCTTTGGCAGCTTTGAAGTCAACTAAAGGGAGACTCAGGGAGCCTCAGAGAGCCTCTTGCCGGCTTTAATGGGTATTAGTGGATCTTCTGTTTTCACTCAGGTTGGATATATATCCCCTGCGTCATACCCATATGGCCCCAATCTCACAGGGGAGGAATGTGTCCCTCCCCCAGGCAGTGACAGGTTTCTCAACAACCCGCTTCCTCCCCACTGGCCTCACCAGTGATGTTGAAGTCCTGTTTGCACTGGCAGTGCCATCTGCCATTATTCGATTTGCAGTCCTCGTCTATACTGCACTCCTCACACGTCCCCTCCACGGAGCTGGGGTCTGCAGGGTCACAGGGACAGACAGACAATCAATAAGGACGCACCCCCGTCCTCTGCAGTGCCTTTCCAGGCCTGGGATGAGGACTGTGGGGAGACTCCGGCTGACCTGTGCAGTACGCCAGGTGACACTCGGGGGGCGCTGTCAGGTTGTAGACGTAGTAGCCGCCGGCACAGGCCTTCACCTGGACGGACGCATCCCACAGGCAGCAGTGGCCGCTCCAGTGCGCGCAGGCCTTGCGGCTCACGATGCCCTCGTCGCTGGACGGATGCGTGCCATTGAGCCACATGGGGGCGGCCGTGTTGCAGCGCAGGACTGGCACGCAGGTCTCGGCCATGCGCGCACCGCCCTGGCCCACGAAGCGGTACCAGCCGCGCAGGTCCGTGTCGCAGGCGTAGCCCTCCCCGTACTCGGTGCTGCGCCAGTACTCGTCCAGGGTGCGGTGCGCCTGGCACGGATCCGCGCACACGAGCGCGTCGCCCTCGGGCACGCAGTCCAACCCCGGCCCGCAGGAGCCCGGGGAGCACTCACAGTGCCATCCATCCCCCCGGTAGCCCGCGGGGCATACGCACAAGTAGCTGCCCACCACATTGACACATGTGGCCAGGGCGTGGCAGTGGCTAAGCCCAGGCTCAGCGCACTCATCCACGTCTGTGCAGCCGAGACCGGGCGACAGGCGGAAGCCTTCGGGGCAGACGCAGGAGAAGGAGCCTGGCGTGTTTACGCAGCTGCTGTTGGCGGAGCGGTTGTGAGCTCCAGGAATGGCGCACTCATCCAGGTCCACGCAGGTCAGGCCATCGCCGGTGAAGCCCTCCTGACAGGTGCACGTCGTAACGGCCTCATCCTCCGTGCAGGTGGCATTGCTGTGACATTCAGAGCACCATCCTGTGGACAGAAAAGCCCAGCTTCAGGGTTTGGGCAGCTGGGCCCATGGCCACCCAGAGATCCTTCCCTCATTCTCCAGGGAACTCATTATTTTTAAGACTTATTCCCTAGAGGGCTCCCTCCAAAACAAGGAAAGAAGCAAAGAAACAAAACTCCTCTGATGATGTCAAGCCTCCACCGTTCATTCTGTGTTTATTTCATTGTATTTTTTAACTTTATTTATTTTTTTGGAGAGGGGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTAGTGCGATCATAGCTCACCATAGCCTCCAATTCCTGGGTTCAAGCGTTCTACTCCCTGAGTTCAAGCCACCACCGCACCCTGCCTCAGCTTCCCAAAAAGTTGGGACCACAGGCACGTGCAATCGCGCCCAGCTCCACCATTCATTTTTTGTGTTAAGCATTGCTTTCAAGCTGTCTTCTTTTAAAATAGCCACATTCAGAAAAGTAATGCGCAGAATTCCTATACTTTGGTAGGATTTACGGTGAACCTGTTGCCCCTCCCTTTCTTTGCACATTTTATGTTTTCTGCTTCCCTGGCTGGTGAAATCTTCATCAGGACCCTGCTCAGTGTCGCCTCCTCTCTGCGGAGTCCTCCAACTCCACCTGGCTGGGCAGTTGTACTTTGTTCCTCCGTAATAAAAATAACCATTAAAAAAAAAAAGAAGCTGTTGTTTATTAAGCAATTACTATATGCCAGGCAATAGGATGTGCACTTTTCACTCACTATCTTGTTGAATACTTCCCAAGGGCCTCGTGAGGTCAGTTTTTTATGTATCCTTATTTTAAAGATGAGGAGACTGAGGTTCAGAGGGATTAAGCCCCTTACTCCTTTGGTAAGAAGTAGAACCAGGATAAAAACGCAGATGGCAGGACCACAAAATATGTGCTTTTAACCAGGACACCGCAATAGTATTCATCGTGCCCCAACGTACTCCAGGGAGAAAATGAAAGTGGGGTGACAGCAAATCTCAACCCAATGGAATGACCTCTTAAAGTTGAAAGGGAAGGTGTTTGGATCCTCCTGCATGGGTTCAAATCTCCTATGTGATAGAGTATGTTTCTGACTTCCAATAAAGGGCCTGCAGGCCTTAGAGATGTTCTAGCCCCTTGCTTTTCAATGTGTACTCCAGGGACCCCAGTATGAGCATCGCCTGGAAGCTTGTTAAAAATTCAGCATCTCAGGTCCTACTGCAGATCTGCTGAACCAGAATATGCACTTTAGCAAAATTTCTAAGTCAGTCCTGTGCATATTGAGTCTAAGAAATGGACTTAGAATGAAGACAATGCAAGTCTCAAGTGCGATAGGAGGATTGAGATCACCTCTGACAGGTGCTACATTGCTTCCCCCACACATTCACACATACACGTGCATACACACATATACAACGCACACACACTTTTCACTTACTTGCTTCTGAGGTGTCAGTGGCTGCAGTTGTGATGAACCAAGAGGCCACCACCACCATCAGCATCCAAGTCAGAGATGGCTGCCCCATCCTTTCTGCTCTTCCCGCTACTTCAGGTCTAGATAGCACCTGCCCAAAGGAAAGACGGGTTGGCCCTTTGAATTTTTCTCTCTGTCTCTGATGTCTGGTGTCCTGTGAACAGAGATGGATGGGACAAATGCATGATCTAACTCTCCTCCCCACAGCTGGAAGGAGTGCTTTGATTGTATAGTATACAACTCCAGGAGGTGTCACTTATATGGACTAAAAAATTGCATAACACTGCAGCCCTTGTTTTGCTGGGACTTTACCCCTTGTACTCCCCCTCCTTACCTCACCAACATCCCAGTCTTGGCTCCCCAATTCTCAGCACATTGCACATTTTGAAGAACTCAGTCATTTGGAGCAGGAAGTAGCCAGATGGAATAGTGTT
|
Task1_train_22464
|
This variant affects gene ACSM3, THUMPD1 (acyl-CoA synthetase medium chain family member 3| THUMP domain 1 NAT10 acetyltransferase adaptor) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Neurodevelopmental disorder
|
TATCATCAGTAAATCAACTTATTGAGAATAAAGTCTCTTCAACTTTGTACTGCATCTTGCCCCAGCATTTTAATGTTATTAGATTCTCACCAACCATGCATATTTTCCTTTCCTGAGATAAGTTCTGCTACTAAATAATTTGCTTCTTAAACCTTTTGACTAAAGGTGATTTCTGAACAAAAGCCTTACTGTTTTTGATAGTCCAAAAGCCATTTGAAAATAATGAATATCCTTTCTTGTCAAGTGGCTGTGATTTATTGTTACAATTGCTAGTTTTGTAAGTTGCATGTCACAGACAATGCACAATGGGACAGGAGAGCTTGGACTGAGTCCACATAATACCCTTGAGAAGTAGCTTTCTTTATTAAGACAGAATTTCTTTGTGTCCCTTGTTGCACTAGTATACTGAAGTATACTCAGAAGACTGAAGTTCTTCATCACCAACCTTTTCAGAAATGTCTGTAGTTCTATGCCTAAAATGGTTCTCGTCTCTCTCACATCTTGCCTTCCAAAATTGCGACACTGGACTGTCAGCTATATTACACACAAATGTTAAAAAAAAAAAAAAAAAACAGACATAAACAAGAAAATCACAAAAGTACAAAAACTTCACTAAACAATTCACTTCTAACCTACATGATCCACATTTTTGCAATGTTTACAACAAAGTGGCAGGCAGACAGCTGAGCTGTGGCATGTAAAAACTCCTTCCTTAGAATGAAAACTTCCCTCTGATTTTCTACTTCACAGGTAGTTCACTCCCTTAAGTCAGCTGGCACTGCAGAAGAGGAGCCTGGGAGAGGCCAACATCCCCCTCCTATCCTCCCCTCTTTGCAACAGCAGCACATGGGTCTGCCTCTACGTAATACCATAAAGGCTGAAAGATCCCTAAAAAAACTGTTAACAGGGCTGCGCAATCATTGCTCACTACTGTGAGAACAGCATAATGCAGCACACAAATAAAAAACTGTTTTTAGTCACAATTTAAGGTGGAGCCCCAGCAACATCTCGTAGAGCCCCAGGTGAGAAACCCACCTCCAACACCAAATGACTTCCTATGAGAAGTCATTTTCATTTGACTTGGATCCTTCTGTGGCTTGACTTGCAAGTTCAGGTTTGGCTCCTCCCTCATTTACCACCTGTGGATTAGACGTTGGTTTTGTCTGCCCCAGCTCCTCAGTATTCTCTGGTACCTGCTGGTTATTTTTTCCTTCTGCTGTGTTGTTTTGGTCTGATTTGTCCGCAGATTCCAGTTTAGCTTCTTTCCCATTTCCCTGCTTTGAGTTAAGCTGTGACGGATCCTTAGGGCTCTTCACCACCTCCTGGAGATTGTATTTTCTAAACAACATGTAATCTTTCACAACACTCAGGCAACAGACAGCTTTGATGATTTCTACTACCACTGTGTACTGTGGATTGGTGAGATCCACTTTATTTTCTGAATTGAGGGTGCACACTATTCCTGTAACAAAAACAGAAAAACACATAGCTGAGGAGGATACCATTACATCTGATAGATACAAAAAATCTTTTGTCTCTGTTTCTTGTTAAAACAAGACATACAGTAATCCACTCTTCTATGTGGACTTCAAATAATCTGAACCCTTACAATAAATAAACACAAATGAAACCCTACAACATTTAATAAGAATTTTTTTCCAAACAAAATTCAATTTCGAGTTAAAAAAGACTTTTATCTAACTACCAGAAAATCTCATATCCGACATATTGAAATCAGTTGATTTAATACTATTTTAAGAACATTTTAATATATTTGTTCTACACTCAAAAATGTAAGCCTTAAATCTTTAAAAAGAAAAAAATCCTTAAAAAACAAGTATTTACCATTGAATGCCTATGGAAAATCACTAAGAGAAACATACCTGCCAATTCTCTGATAACTTCTTCTCTATTCACATGACTGTTATTTCGAGATTTGTACACAATCTGAAATGTCCCTTTGTTTGGAGCTTTAAACCAGGGTTCCAAAAATGTTTCTGCATATTTTTTCATATCTTCTAAAAAAGCCTTGCATGTGCCTGAGATGGGTAACATTCGCAAAATAACTCGAGTCTTCTTTTTCTTGGTTTTGTACATATCCTGGAGAATATGATGCACCAATTTCTCAGGCTCTTAAGAAAAAAAAAAAGTTAAGAAGATAATTTCTCAGACATCTTAAAGATCGAACTCTAAAATGAATTTTCACTGGCAATGACATAAGTTGACAGAAGAAATTCTCATAATGAATTTTAAATGAATCTACCTAGTCATTCTTTCCAAACAGTATTTCTTCAGTGCCTAATACGTACTATAATGTATCTAATATATTTTAACTTTTCATCATTATTACTGCTTGCACTAGAAATGACTGTTTAGGTAGACACCGTTGTTAACATTTTTGTGATGTCCTGAGTTATCCAACCGTAACACCATGCTGTTGTTTTCCTGTAACAACAGAGTACATTAAACAGTACACACTTTTTTACAAAAAAAAAAAAAAAAAATTCTGTGAGTCACTTTAAAAGATGTAATTAATCCATTAGCTAAGTTAGCACACAAGTCTAAATCTCAGACCCAAGAGGAATCCCAGAACCATGCTGGGCACAACATCATGAAAGGGAGGTCCTCAGGCTGCAACTTGCCTACATACAAGTATATTTGGGGCTGCTCCGAAAATTTGTAAATTAGTTGACCACACTGAAAAACAAAAAAACTCCAGATTTCAAACTTCTTTTGAGAAATTCAAATACCTGGCCCTGCATTCCCAAAGAGCAACAACTGGCTGGAGCTGAGTAGCAGCTGCCCCTTATTTACACAGAACTGGCACTCTAGTTCTGCCTTAAGTTATATACGAAGGAAGCAGCAAAGCCAGGTTTCCACTCATAAGCCAATGCTACGTCCACCACCCCATTCTACCTCTCCACAGGCCAACTGCTAATACAGTGTACAGAAGCTGCCATCAAATGATTAACTGAGTCATGCCCAAGAAGCCATTTTGTAAGCAGTATTCCCTGAGACAGGAAGATACCCAGATGTTATGAGATCGATAATCTTAGCAAGTATTTGTCACACCTATCCCAAGTGTCCTGATGAAGACAACGTTATTTGCTCCACTTTCCACTGACTGGAATCTTCTTAACCTCATCTCTGTAGATGCCTTAATGTCACCAACTTCTTTCTTCAAGGCAGCCTCCGCATCATCATCCTCTCCCTCACTTCCAGAGGGCTGCTGATCCTTGTCTGTAAACTGTTTGCATAAAACTAATGAGCAGAAATGACACAACAGCTCACATTTAAACACTATAAGTAATTATTTATGTGAAGTCCCTGGCGGCAGGTGGCTCAGTATTGATTTTTTTTTTTTTTCTAAAGATGGAGTCTCGCTTTGCCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTTGCTGCAACCTCCGCCTCCTGGGTTCAACCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGCGCATGCCACTACACACAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGTCAGGCTGGTCTTAAACTCCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCAGCTGACTCAGTATTGATAATAAAGCTTTTTTTACGAAGCTGGGACACCACACCCTTCAAAACGTGGAGCAAGGCCGGAAGTGGTGGCTCATGCCCATAATCCCAGCACTCTGGGAGGCAGAGGCAAGCAGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCCGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCAGATATTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAAAAATGTGGAGGAAGAGGGAATTCCCGCAGACTATAGAATGTAAAATTTGAAAATGTTTTCAAAAGCATCCTGACAGTT
|
TATCATCAGTAAATCAACTTATTGAGAATAAAGTCTCTTCAACTTTGTACTGCATCTTGCCCCAGCATTTTAATGTTATTAGATTCTCACCAACCATGCATATTTTCCTTTCCTGAGATAAGTTCTGCTACTAAATAATTTGCTTCTTAAACCTTTTGACTAAAGGTGATTTCTGAACAAAAGCCTTACTGTTTTTGATAGTCCAAAAGCCATTTGAAAATAATGAATATCCTTTCTTGTCAAGTGGCTGTGATTTATTGTTACAATTGCTAGTTTTGTAAGTTGCATGTCACAGACAATGCACAATGGGACAGGAGAGCTTGGACTGAGTCCACATAATACCCTTGAGAAGTAGCTTTCTTTATTAAGACAGAATTTCTTTGTGTCCCTTGTTGCACTAGTATACTGAAGTATACTCAGAAGACTGAAGTTCTTCATCACCAACCTTTTCAGAAATGTCTGTAGTTCTATGCCTAAAATGGTTCTCGTCTCTCTCACATCTTGCCTTCCAAAATTGCGACACTGGACTGTCAGCTATATTACACACAAATGTTAAAAAAAAAAAAAAAAAACAGACATAAACAAGAAAATCACAAAAGTACAAAAACTTCACTAAACAATTCACTTCTAACCTACATGATCCACATTTTTGCAATGTTTACAACAAAGTGGCAGGCAGACAGCTGAGCTGTGGCATGTAAAAACTCCTTCCTTAGAATGAAAACTTCCCTCTGATTTTCTACTTCACAGGTAGTTCACTCCCTTAAGTCAGCTGGCACTGCAGAAGAGGAGCCTGGGAGAGGCCAACATCCCCCTCCTATCCTCCCCTCTTTGCAACAGCAGCACATGGGTCTGCCTCTACGTAATACCATAAAGGCTGAAAGATCCCTAAAAAAACTGTTAACAGGGCTGCGCAATCATTGCTCACTACTGTGAGAACAGCATAATGCAGCACACAAATAAAAAACTGTTTTTAGTCACAATTTAAGGTGGAGCCCCAGCAACATCTCGTAGAGCCCCAGGTGAGAAACCCACCTCCAACACCAAATGACTTCCTATGAGAAGTCATTTTCATTTGACTTGGATCCTTCTGTGGCTTGACTTGCAAGTTCAGGTTTGGCTCCTCCCTCATTTACCACCTGTGGATTAGACGTTGGTTTTGTCTGCCCCAGCTCCTCAGTATTCTCTGGTACCTGCTGGTTATTTTTTCCTTCTGCTGTGTTGTTTTGGTCTGATTTGTCCGCAGATTCCAGTTTAGCTTCTTTCCCATTTCCCTGCTTTGAGTTAAGCTGTGACGGATCCTTAGGGCTCTTCACCACCTCCTGGAGATTGTATTTTCTAAACAACATGTAATCTTTCACAACACTCAGGCAACAGACAGCTTTGATGATTTCTACTACCACTGTGTACTGTGGATTGGTGAGATCCACTTTATTTTCTGAATTGAGGGTGCACACTATTCCTGTAACAAAAACAGAAAAACACATAGCTGAGGAGGATACCATTACATCTGATAGATACAAAAAATCTTTTGTCTCTGTTTCTTGTTAAAACAAGACATACAGTAATCCACTCTTCTATGTGGACTTCAAATAATCTGAACCCTTACAATAAATAAACACAAATGAAACCCTACAACATTTAATAAGAATTTTTTTCCAAACAAAATTCAATTTCGAGTTAAAAAAGACTTTTATCTAACTACCAGAAAATCTCATATCCGACATATTGAAATCAGTTGATTTAATACTATTTTAAGAACATTTTAATATATTTGTTCTACACTCAAAAATGTAAGCCTTAAATCTTTAAAAAGAAAAAAATCCTTAAAAAACAAGTATTTACCATTGAATGCCTATGGAAAATCACTAAGAGAAACATACCTGCCAATTCTCTGATAACTTCTTCTCTATTCACATGACTGTTATTTCGAGATTTGTACACAATCTGAAATGTCCCTTTGTTTGGAGCTTTAAACCAGGGTTCCAAAAATGTTTCTGCATATTTTTTCATATCTTCTAAAAAAGCCTTGCATGTGCCTGAGATGGATAACATTCGCAAAATAACTCGAGTCTTCTTTTTCTTGGTTTTGTACATATCCTGGAGAATATGATGCACCAATTTCTCAGGCTCTTAAGAAAAAAAAAAAGTTAAGAAGATAATTTCTCAGACATCTTAAAGATCGAACTCTAAAATGAATTTTCACTGGCAATGACATAAGTTGACAGAAGAAATTCTCATAATGAATTTTAAATGAATCTACCTAGTCATTCTTTCCAAACAGTATTTCTTCAGTGCCTAATACGTACTATAATGTATCTAATATATTTTAACTTTTCATCATTATTACTGCTTGCACTAGAAATGACTGTTTAGGTAGACACCGTTGTTAACATTTTTGTGATGTCCTGAGTTATCCAACCGTAACACCATGCTGTTGTTTTCCTGTAACAACAGAGTACATTAAACAGTACACACTTTTTTACAAAAAAAAAAAAAAAAAATTCTGTGAGTCACTTTAAAAGATGTAATTAATCCATTAGCTAAGTTAGCACACAAGTCTAAATCTCAGACCCAAGAGGAATCCCAGAACCATGCTGGGCACAACATCATGAAAGGGAGGTCCTCAGGCTGCAACTTGCCTACATACAAGTATATTTGGGGCTGCTCCGAAAATTTGTAAATTAGTTGACCACACTGAAAAACAAAAAAACTCCAGATTTCAAACTTCTTTTGAGAAATTCAAATACCTGGCCCTGCATTCCCAAAGAGCAACAACTGGCTGGAGCTGAGTAGCAGCTGCCCCTTATTTACACAGAACTGGCACTCTAGTTCTGCCTTAAGTTATATACGAAGGAAGCAGCAAAGCCAGGTTTCCACTCATAAGCCAATGCTACGTCCACCACCCCATTCTACCTCTCCACAGGCCAACTGCTAATACAGTGTACAGAAGCTGCCATCAAATGATTAACTGAGTCATGCCCAAGAAGCCATTTTGTAAGCAGTATTCCCTGAGACAGGAAGATACCCAGATGTTATGAGATCGATAATCTTAGCAAGTATTTGTCACACCTATCCCAAGTGTCCTGATGAAGACAACGTTATTTGCTCCACTTTCCACTGACTGGAATCTTCTTAACCTCATCTCTGTAGATGCCTTAATGTCACCAACTTCTTTCTTCAAGGCAGCCTCCGCATCATCATCCTCTCCCTCACTTCCAGAGGGCTGCTGATCCTTGTCTGTAAACTGTTTGCATAAAACTAATGAGCAGAAATGACACAACAGCTCACATTTAAACACTATAAGTAATTATTTATGTGAAGTCCCTGGCGGCAGGTGGCTCAGTATTGATTTTTTTTTTTTTTCTAAAGATGGAGTCTCGCTTTGCCTCCCAGGCTGGAGTGCAGTGGTGCGATCTTGACTTGCTGCAACCTCCGCCTCCTGGGTTCAACCAATTTTCCTGCCTCAGCCTCCCAAGTAGCTGTGATTACAGGCGCATGCCACTACACACAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCGCCATGTTGGTCAGGCTGGTCTTAAACTCCTCAGGTGATCCACTCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCTACCATGCCCAGCTGACTCAGTATTGATAATAAAGCTTTTTTTACGAAGCTGGGACACCACACCCTTCAAAACGTGGAGCAAGGCCGGAAGTGGTGGCTCATGCCCATAATCCCAGCACTCTGGGAGGCAGAGGCAAGCAGATCACCTGAGGTCAGAAGTTCGAGACCAGCCTAGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCCCGATGTGGTGGCAGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGAAGGCAGATATTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAATTAAAAAAAAAAAAAAAATGTGGAGGAAGAGGGAATTCCCGCAGACTATAGAATGTAAAATTTGAAAATGTTTTCAAAAGCATCCTGACAGTT
|
Task1_train_22465
|
A variant was discovered on Chromosome 16, affecting ZP2 (zona pellucida glycoprotein 2). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Oocyte maturation defect 6
|
AGGAGTCTAAGACCAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAGATATAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGTGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGGGACAAGAGTGAGACCTCGTCTCAAAAACAAAACAGAAGGCTTAGTAACTGAGCTACCACAGCTTCAAGAAAGCAAAGGTGCAGTTTTAGCCAAGTACACACTATTCCATAAGAATGGGTGAGATCCAGTTGTAGGACAGGACACGGCAGGAGAGCTGTAAGGTTGAACACCTATGTGTACAAGTGTGTGGCTGCAACCTCAGAGCATCAGTGCTCAGATTCTAGAGTCAGATGGATATTCTAATACAAGCTCCATTGTTTAAGTATTGTTTTGGGCTGGTTATTTAGGCAGCAAGCTGGGGTTTCTTCATGAAAGACGAAGACTAGTACAACTAGTGGATGTGGAATACATAGCACTGTGCCTGGCATATGGTAGGTGTTCAGATGGATAGAGGCTAGAGACCAGTCTTTCCAGATGATCAACACCATAGTAGAGTCAGACTTTCTGGGGCTTTGGAACTCATTCCTTAAGATTCAAGAGGTGATTGGAAGGCAGCATGTGGCCAAGTGTGGTGGTTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGTAGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAGATAGCAAAAATTAGCTGGGCTTGGTGGTGTGCCCCTGTAATCTCAGCTACCCAGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGGGGCTACAGTGAGCTAAGATCATGCCGCAGCACCCCAACCTGGGTGACAGAATGAGACCCCATCTCAAAACAAAAAAAAAAAAAACAGAAGGCAGAAGAGTCCCAATTAGAAAACAAGGACTAAATCTGGATCTCACATGACTGAATGCTGCTCTAAAGCCCAAGAGGGTTTATTCCCATTACTGGCAAGTTTTGATGGATTAGCTGGGTAACCTGATAGTACAGGGAGTACCTACCCATCCACGACAACGTTCCACTGGGGGAAAGAGTCTGGATCCATGGTGGACGTCGCCCAGCAGTCATCTAAGACCAGCTTGATGTTGGGGTCATCCCTGTTTAGGACTCTCACTTCCATGTAAATTGGTTGGCGGAGGAATCTCACTAGAGGGTACTCGTTTTCCCCATAAGGTTGTTGGTAGGAATTATCTGAAATTGAATGGTATTCAAGTAGTTAATGGCTGCAACACAGATTCATAGGTCATCACTGCTCCATTAGTCTGGCAGTATCAGGATGTTCATTTTAGGGAGAAGTTTGAGATCATTTAAGCAATTTCACAGACTGCAATCTCTTACCTGGGTAGCTTTGCAGGATCAAGGTAAATGGACCCAACTTCACTGAGGCCACTGGAGGAGTAAGGCTTTCAACGTTGATGTTTAGTAGCATGTCATTCCTGCTATAAGAACACTTCACTGTCATTCTGTAAGAGTTTGGAGGGAAGGTAGGTACAGAAAATTTCAGGTTAAAAAATTGCTTGAGTTTAAACTAGAGCTTAAGAGTCAAATAGCAATTTTATCTCACCTGAACTCACTGTCTCTAGATATTTTGCTTGGAGGAAAATCCGTCCAGAGAGCATGTATTTCGTTTTCATAGACGACTTTATCATCTTCGAACTTAAATGTCAGAGAAAGTGGGTTAGCAGCCAGTTATGTCAAAGATGAGACTTAACCTCGTGCCATCTGCCAGTACTAACCTTATATCTCGTTCCACATCCATTCAGGGGTATGTGGAACCGTACCAGCCCCTGAGACTGAGCCTCAAAGACAGGCTGGCAGGATGAGTTTCCCACCCTCAGAGTACCCAGGTCAAGAGCTGGTTGTGTTTGGTAGCTGTAGACCTCGACGTCCATAAACCCATCCTGGGTGCACAGCTCCCCTGTAACTAGACAGCGGTGAAAGTTTAGAGAAAATAAGTTTGTCTGCCCTGTGATACTGTCATCTCCCAACCTGATATGCTACGAGGGAGAAATTCTAATTTAGCAGGAGGCATCAGAATCTGTCTTGAAGTCTTTATGAGGGAACCTTGATCAGCAGCTTGAATTACAAAGGGAGCTGAAGTTAGTTGATTGTTCTATGTGAGAGTAGGACTTTTCATCCAAAGGAGGGACCAGTAGATGTAGGAAGAAGTGCTATATGGTATAAGACCAGTGAGAATCCTGATGAAGGGCAGGAGTTGACTCAAGGTTAAACTTAATGTGGCTTTAAGTACAGCGCCTATGTTATTGTATCCTTTCTTTGTATACTCACAAATCCTGAGTAGTTTGGGGAGAAACTGAGGCAGGAGCTGGTTTTCCTATTTGATCTGACCTGTGCAGATCACATTAAACAGAAGCACATGGTGGAGGCAATGCTAAACAAGAGATATTCACTCTATTTAAGAATTTGTAGGAATTTTGGGGTGGGGGGGTACTTAAACTTAATTCTAATTAGAAGTTTGAATATTCTTACCTAGATGTCAGGTTCAGGCTCCTAAGCCAAAATATCTAGATTGTTTAACCATGGAGCAGTTGCCATAAAACCTACCTATGTAGGGATCTTAAAAATATCATACTTAGGACCCCATCGTAGCAGCTACACTGTTTCTAATCTGACTAGTCTTTAGTTTCTTCAGTCTATAAGCAATAGATCAGAATCTGACCTTCTATACATTTGCCCACATGTACAAGAGCCAAGGGAGAAAAAAGGTAGAACATGATTTTAATAAAAGGTCTTTACCTATAGAAACGGGTGACTCACAGAGACACTCAGGATAGATCACCATGGATACTGTCTCTGGCCGAAGGAGAAAGGTCAGCTTGAGTGAAGCTAAGTAGAACTGATGGAGTAGGCATTTTTCAGATAACTGAAATGAGAAAATGTCAATTAGCAGCCACAGTCCGTTGGGGCCCGGAACCGTCACAGGGAGGCAGGAAGCAAGTCCACTAAATACTTGCAGGACACACTCCAGACTTATCTGGGCTCCCTTTAAACCAAAACAAGAGAGACCCTATCACTTCCTCAGATCTGGATGTATCCCCAGGCAGATTTATTGCTTTAAACTCATGCCCTGGAGTACCCAGCACTGTACTCTTTGTACGAGGCACTAAAGCTTGAATTAGCAGATCAAATTCCAAAGAATAGTGGAATCCTCTGCCAAGCCAGGTCTGAGTCAAAAGGACTCTACAGATGTTATAAAATGGTATTGCATAATATGTACCCCCAACCTAAGATTATTCTCTGGTATCCCTGGCAGTTCTAGTGAAGACTAACCTCAACAGCAACAGTACGGGACCCTTTTGTTTAGATCAAGGTGTCCTGTTCGTTGACCAGGACAGATTCATCATTAGGTATTTGACAAGTAGTTGCTACTACTCAGTTGGGGCCTTAGACAGTTTTAAGACTTAGAAAGACTTAGACGATTTTTCATGACAGAAGTTAAAGAGGTTTTGTGTTAGAGAATGAACTTTAGTTACTTGATATTTCACTTATACAAGATGATCAAATGAGGCCTTTTGGAGTTTGAATCTGTTATGTTGGCAATTAGAGCTCACGGGCAAGTTATCAGCCGTATGAGGACTACCCACAAGAGTATACTTCAAGTCAGGACCCGGTGGAGTTCAGTGGTTGACAATTGAACATACTTTCGTTTTGAGCAGAGTTTTGCTGAAATGCAATTTCATGCCATTTGTTGCTTCTAGATCAATTCCATTGTCATGCAGCTGGCTCACATCAATGTTCTGGTTTTCAAAGCTCACAGACTTAAGCTTCCCAGGAAACTCTGGTATGGTGAGAGTCATGTGTGTGGCATTGCAGGTCACAGGATCTAGAAGGAATGACAACAGAATGCCCATTACCAGCCTTGATTAAGCTTCTAGGACAATGTCTCCCACACTGAGGTTGCAGCTATCTGGGACCTTACCTGGTGCACAAATAGC
|
AGGAGTCTAAGACCAGCCTGGCCAACATGGTGAAACCCCGTTTCTACTAAAGATATAAAAATTAGCTGGGCATGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTAAGGCAGGTGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATTGTGCCATTGCACTCCAGCCTGGGGGACAAGAGTGAGACCTCGTCTCAAAAACAAAACAGAAGGCTTAGTAACTGAGCTACCACAGCTTCAAGAAAGCAAAGGTGCAGTTTTAGCCAAGTACACACTATTCCATAAGAATGGGTGAGATCCAGTTGTAGGACAGGACACGGCAGGAGAGCTGTAAGGTTGAACACCTATGTGTACAAGTGTGTGGCTGCAACCTCAGAGCATCAGTGCTCAGATTCTAGAGTCAGATGGATATTCTAATACAAGCTCCATTGTTTAAGTATTGTTTTGGGCTGGTTATTTAGGCAGCAAGCTGGGGTTTCTTCATGAAAGACGAAGACTAGTACAACTAGTGGATGTGGAATACATAGCACTGTGCCTGGCATATGGTAGGTGTTCAGATGGATAGAGGCTAGAGACCAGTCTTTCCAGATGATCAACACCATAGTAGAGTCAGACTTTCTGGGGCTTTGGAACTCATTCCTTAAGATTCAAGAGGTGATTGGAAGGCAGCATGTGGCCAAGTGTGGTGGTTCACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGTAGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAGATAGCAAAAATTAGCTGGGCTTGGTGGTGTGCCCCTGTAATCTCAGCTACCCAGGAGGCTGAGGTAGGAGAATTGCTTGAACCCAGGAGGCAGGGGCTACAGTGAGCTAAGATCATGCCGCAGCACCCCAACCTGGGTGACAGAATGAGACCCCATCTCAAAACAAAAAAAAAAAAAACAGAAGGCAGAAGAGTCCCAATTAGAAAACAAGGACTAAATCTGGATCTCACATGACTGAATGCTGCTCTAAAGCCCAAGAGGGTTTATTCCCATTACTGGCAAGTTTTGATGGATTAGCTGGGTAACCTGATAGTACAGGGAGTACCTACCCATCCACGACAACGTTCCACTGGGGGAAAGAGTCTGGATCCATGGTGGACGTCGCCCAGCAGTCATCTAAGACCAGCTTGATGTTGGGGTCATCCCTGTTTAGGACTCTCACTTCCATGTAAATTGGTTGGCGGAGGAATCTCACTAGAGGGTACTCGTTTTCCCCATAAGGTTGTTGGTAGGAATTATCTGAAATTGAATGGTATTCAAGTAGTTAATGGCTGCAACACAGATTCATAGGTCATCACTGCTCCATTAGTCTGGCAGTATCAGGATGTTCATTTTAGGGAGAAGTTTGAGATCATTTAAGCAATTTCACAGACTGCAATCTCTTACCTGGGTAGCTTTGCAGGATCAAGGTAAATGGACCCAACTTCACTGAGGCCACTGGAGGAGTAAGGCTTTCAACGTTGATGTTTAGTAGCATGTCATTCCTGCTATAAGAACACTTCACTGTCATTCTGTAAGAGTTTGGAGGGAAGGTAGGTACAGAAAATTTCAGGTTAAAAAATTGCTTGAGTTTAAACTAGAGCTTAAGAGTCAAATAGCAATTTTATCTCACCTGAACTCACTGTCTCTAGATATTTTGCTTGGAGGAAAATCCGTCCAGAGAGCATGTATTTCGTTTTCATAGACGACTTTATCATCTTCGAACTTAAATGTCAGAGAAAGTGGGTTAGCAGCCAGTTATGTCAAAGATGAGACTTAACCTCGTGCCATCTGCCAGTACTAACCTTATATCTCGTTCCACATCCATTCAGGGGTATGTGGAACCGTACCAGCCCCTGAGACTGAGCCTCAAAGACAGGCTGGCAGGATGAGTTTCCCACCCTCAGAGTACCCAGGTCAAGAGCTGGTTGTGTTTGGTAGCTGTAGACCTCGACGTCCATAAACCCATCCTGGGTGGACAGCTCCCCTGTAACTAGACAGCGGTGAAAGTTTAGAGAAAATAAGTTTGTCTGCCCTGTGATACTGTCATCTCCCAACCTGATATGCTACGAGGGAGAAATTCTAATTTAGCAGGAGGCATCAGAATCTGTCTTGAAGTCTTTATGAGGGAACCTTGATCAGCAGCTTGAATTACAAAGGGAGCTGAAGTTAGTTGATTGTTCTATGTGAGAGTAGGACTTTTCATCCAAAGGAGGGACCAGTAGATGTAGGAAGAAGTGCTATATGGTATAAGACCAGTGAGAATCCTGATGAAGGGCAGGAGTTGACTCAAGGTTAAACTTAATGTGGCTTTAAGTACAGCGCCTATGTTATTGTATCCTTTCTTTGTATACTCACAAATCCTGAGTAGTTTGGGGAGAAACTGAGGCAGGAGCTGGTTTTCCTATTTGATCTGACCTGTGCAGATCACATTAAACAGAAGCACATGGTGGAGGCAATGCTAAACAAGAGATATTCACTCTATTTAAGAATTTGTAGGAATTTTGGGGTGGGGGGGTACTTAAACTTAATTCTAATTAGAAGTTTGAATATTCTTACCTAGATGTCAGGTTCAGGCTCCTAAGCCAAAATATCTAGATTGTTTAACCATGGAGCAGTTGCCATAAAACCTACCTATGTAGGGATCTTAAAAATATCATACTTAGGACCCCATCGTAGCAGCTACACTGTTTCTAATCTGACTAGTCTTTAGTTTCTTCAGTCTATAAGCAATAGATCAGAATCTGACCTTCTATACATTTGCCCACATGTACAAGAGCCAAGGGAGAAAAAAGGTAGAACATGATTTTAATAAAAGGTCTTTACCTATAGAAACGGGTGACTCACAGAGACACTCAGGATAGATCACCATGGATACTGTCTCTGGCCGAAGGAGAAAGGTCAGCTTGAGTGAAGCTAAGTAGAACTGATGGAGTAGGCATTTTTCAGATAACTGAAATGAGAAAATGTCAATTAGCAGCCACAGTCCGTTGGGGCCCGGAACCGTCACAGGGAGGCAGGAAGCAAGTCCACTAAATACTTGCAGGACACACTCCAGACTTATCTGGGCTCCCTTTAAACCAAAACAAGAGAGACCCTATCACTTCCTCAGATCTGGATGTATCCCCAGGCAGATTTATTGCTTTAAACTCATGCCCTGGAGTACCCAGCACTGTACTCTTTGTACGAGGCACTAAAGCTTGAATTAGCAGATCAAATTCCAAAGAATAGTGGAATCCTCTGCCAAGCCAGGTCTGAGTCAAAAGGACTCTACAGATGTTATAAAATGGTATTGCATAATATGTACCCCCAACCTAAGATTATTCTCTGGTATCCCTGGCAGTTCTAGTGAAGACTAACCTCAACAGCAACAGTACGGGACCCTTTTGTTTAGATCAAGGTGTCCTGTTCGTTGACCAGGACAGATTCATCATTAGGTATTTGACAAGTAGTTGCTACTACTCAGTTGGGGCCTTAGACAGTTTTAAGACTTAGAAAGACTTAGACGATTTTTCATGACAGAAGTTAAAGAGGTTTTGTGTTAGAGAATGAACTTTAGTTACTTGATATTTCACTTATACAAGATGATCAAATGAGGCCTTTTGGAGTTTGAATCTGTTATGTTGGCAATTAGAGCTCACGGGCAAGTTATCAGCCGTATGAGGACTACCCACAAGAGTATACTTCAAGTCAGGACCCGGTGGAGTTCAGTGGTTGACAATTGAACATACTTTCGTTTTGAGCAGAGTTTTGCTGAAATGCAATTTCATGCCATTTGTTGCTTCTAGATCAATTCCATTGTCATGCAGCTGGCTCACATCAATGTTCTGGTTTTCAAAGCTCACAGACTTAAGCTTCCCAGGAAACTCTGGTATGGTGAGAGTCATGTGTGTGGCATTGCAGGTCACAGGATCTAGAAGGAATGACAACAGAATGCCCATTACCAGCCTTGATTAAGCTTCTAGGACAATGTCTCCCACACTGAGGTTGCAGCTATCTGGGACCTTACCTGGTGCACAAATAGC
|
Task1_train_22466
|
Located on Chromosome 16, this mutation impacts CRYM (crystallin mu). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Autosomal dominant nonsyndromic hearing loss 40
|
AGAAAAGATATATGAATATTCTCATCATTCCATGCTCTTCTCTATATATCCTTTAGGGTAGTGACCATCAGGATTCCTCAGAAAGACTCCATAGTCACTTGAGATATGCAGAATCAGATCATGTGGGTAATGTGGGTATTTTGTTTCAGCACAAAGACCCCTGTCCAGACAGTCTGGCAAATATGATAAACTTTTGGCTAAACCATCTGGAGCATGAGTCCTTCCCAGGAGGAGTATGGTCAGGAAAACAGAGCCATGCTTTGCTGCTGACTTATCTGAAAACCAGCCTTGGAGTAGCAAAAAGCGAAGGGGTGGGGTGAGGCTAGGGTCGGAGTGGGATTTGGACAGGGCCTTTGGCAGGACAAGGACAACACGGTTCTGCTAGTGATTCAGGGGGCCTGGAGAAAGTATCTCTGCACCTCAGTTTCCCCATCCGTAAGTTGAAGATCGACTAGCTGATCCTTAATGGCCCTTTTAACATGGATACTGTAGTGGACATCTTTAGATTTTGCCTTTCAACTACCCAGTCCTCTTTTTGTTAAGAGACACCTTCCCTCCATCAGCTCATGTGGGCAGATGCGCAGATGACACTTCTGACTTCAAGGGTGGGCATGTGATCCAGGCCTGGATAACCAGAGCATCTGATCCCCCTGGACAACGTGATGGTTCAGGGATAGGTACAAGGCTTGAGCCTGGCCAGGGTATTCCATCTCTTTAAAAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACCTCACCCCGTCTATTCCATGTCTTTCAGCCACAATGTTAGGCTCAGGAATAGACATGTGACCTAGATGGTCCAGTAACTCTCAGTTCTGGAACATCTAACTGTAAAGGAAGAGAATATTTATGCTCAGTTGCTAAAGAGGACAGAATACAATTCAGGAGCTGCTGACCAATGTCCTGCCACTACCAGGGAGAACTTGATAATGGAGCCAACGGGGAAGAAGACCAGGCCCTGGTGACAGTTGGAGCCCCTGAATACAGCTGTAGCTGAAACCAGTTACCTGTGTGTTCCTAATTACGAGAGCCAATAAATCTCATTCTCCATTCATTCAGCTTAAGGTAGTTTGAGTTGTAGTCTCTACCACTTATGACCAAAGGAGCCCTGATCTATACAGAAATTCCATTTTTCCTCTAAGCATTAAGGAGTCAGGCACAAAAGACTACATATAGTAGAATTTCACTTGTAAGAAATGACCAGGCTTGGCCGGGAGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGGCACCTGTAATCTCAGCTACTCGTGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATCGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAAAAAAAAAACACTACTGAATTGTATAGTTTAAACTAGTGGATCTTAGAGTATGTGAGTTGTAACTACTAAATAAATACATAAAAAAGAAGTTTCATTATAGCCAGTGTAGCTCCCCCAGGGAGTAAATGGGAGCATCTGATCCCTCTCAGTTTCCTTGTGATAGTAATAGAAGTTACCGAAGCAAACACTGCACAATTGGAATGTGCTTTATTTCAGGGAAATATAAAGGGAAATGAATGCTATTATAACTTGGTAGAACAGAAGAAATGGCTACCTAGCTTTGCTTTCCAACTACAAACATAAATGAGGATCTCAGCATTTAAGGTAAAACATGATAAGCACAAAAGGAGAGTTCACTGGGGACTGGACTCCCTCATTTACTCTAGAAATTATGAGAACCAGCAGCAATATTCCTCAAGCATCCATCTCAACATCAAGTTCCTTTGTTTTATTTACCAGATGACCAGGAATCATAGATGAGTTTGGCTGCAACTGTGTCTTCCACTGCCATTCCTAGAATAGACAGAAATTTGGTTCGCCTTTGGTCAAAACAACTTTTCTTGAAACAACCCAGGCCCCATGGCTGGAAGTTTCCTGATACATGTCCATGTTGCCAATGCCTATTGGAATAACAGGGACTGATACCCAGAGATGAGCTCAGGCTTCAATTGTCTGCAAAGGGGCAGAGAATATGATAGTAAGAAACACCCACCAACAAATTGTGCATCTTTCTAAATCTAGCTCAGGGCTGAGCAAATTTTTTTTTTTAATTTTTTTTTTTTTCGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCGCGATTTTGGCTCACTGCAAACTCTGCCTCCCAGGATCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTAGTTTCAAACTCCTGACCTCAGGCGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCACGCCTGGCCTGAACAAACTTTTCAAAAAGGGTCAGACAGTAAATCCTTTAGGCTTTGTGGGCCACAGGGTCTCTATTACAATTATTCAACTCTGCCTTTAGAGTAGAAAACACAGCCAACAGGTAAACAAAAGAGCCTGGCTGTGGGCTGTGTTCCAGTGAAATTATTGATGGGACTGAAGCTTGAATTTTGTATCATTTTCAGACATCATGAAATATTTTCTCCCCCCATTCATTTGAAAATCTAAAAACCATTTCTAGCTCATAGGCCACACAAAAGCAGGCAGCAGAGCAGGTCTGGCCCCAGGACTGTAGTTTTCTGACGCTTGGTCCAGTTTGAATGCTGCATCCTTTGATATCTCCCCTTTGTCTTGTAATTTTGGTAGATACCTTAACCTCTGCACCCAGCACAGATAATTAGGTGCTTGATACGCATCTGTTAGATGAAACAATGCACCAATAAACTGATCCCCAAAAGTAAGAAAGCAAAAATTGCCAAAAAGGACAGAACAAGTTTCTGCAGCATTTTGGCTCCTTAAGTAAGGGCTGGCTGACCTCTGATCTGCCATGACCTTTGAAGTTTTCAGACAAAACTGGATCCATGTGATGTCTTTGAACCAGGCTCCAGATAAAATTGTATTGCCTTTGTCTTCCAGTGCATGAGAGATTTTAAAGACATTTACCAACCTGCAAGGCATGGATACTTAACCAATGGCATGGGCTCTGGGTGGCCAGAGCGCTCCTGATGCTCTGCCAGGCATTTACTCTTTTGCTGCTTGATCACGAAGTATGGAAGGTCATGAGAGGGGGACAGAGGGCACTCTCGAGGGGCTCAGGATAGCAACTGTTTACCAACCAGTTTGGGAGTATTTCAGTGTTTTAGGTGTATCAGCTCTGTTCCCATGTACTTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCACGATGTCAGCTCACTACAACCTCCACCTTCCGGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTGCAGATGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTTAGCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCTCAGCCTGTTCCCATGTACTTCTGTTTCCTTCAATCTCATAGGGTGGAAGAGGACCTGGGGCAAGGGACAGACTGGCCACTGGGAGCCCACCCTTTGTTGGGCTTCTATAAGGTACCCCATACAACTCAGGTGGTAGGGGGCTCCCCATGGAAGCCCTCCTCAAAGCAGCAAGTGGGAGAGTAGGGAAGGAGGGAATGAACAGGGCTTAGGCTATACTTTCCATCTGACTCTTTCAGGT
|
AGAAAAGATATATGAATATTCTCATCATTCCATGCTCTTCTCTATATATCCTTTAGGGTAGTGACCATCAGGATTCCTCAGAAAGACTCCATAGTCACTTGAGATATGCAGAATCAGATCATGTGGGTAATGTGGGTATTTTGTTTCAGCACAAAGACCCCTGTCCAGACAGTCTGGCAAATATGATAAACTTTTGGCTAAACCATCTGGAGCATGAGTCCTTCCCAGGAGGAGTATGGTCAGGAAAACAGAGCCATGCTTTGCTGCTGACTTATCTGAAAACCAGCCTTGGAGTAGCAAAAAGCGAAGGGGTGGGGTGAGGCTAGGGTCGGAGTGGGATTTGGACAGGGCCTTTGGCAGGACAAGGACAACACGGTTCTGCTAGTGATTCAGGGGGCCTGGAGAAAGTATCTCTGCACCTCAGTTTCCCCATCCGTAAGTTGAAGATCGACTAGCTGATCCTTAATGGCCCTTTTAACATGGATACTGTAGTGGACATCTTTAGATTTTGCCTTTCAACTACCCAGTCCTCTTTTTGTTAAGAGACACCTTCCCTCCATCAGCTCATGTGGGCAGATGCGCAGATGACACTTCTGACTTCAAGGGTGGGCATGTGATCCAGGCCTGGATAACCAGAGCATCTGATCCCCCTGGACAACGTGATGGTTCAGGGATAGGTACAAGGCTTGAGCCTGGCCAGGGTATTCCATCTCTTTAAAAGATGGGGTCTTGCTATGTTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCAATCCTCCTGCTTCAGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACCTCACCCCGTCTATTCCATGTCTTTCAGCCACAATGTTAGGCTCAGGAATAGACATGTGACCTAGATGGTCCAGTAACTCTCAGTTCTGGAACATCTAACTGTAAAGGAAGAGAATATTTATGCTCAGTTGCTAAAGAGGACAGAATACAATTCAGGAGCTGCTGACCAATGTCCTGCCACTACCAGGGAGAACTTGATAATGGAGCCAACGGGGAAGAAGACCAGGCCCTGGTGACAGTTGGAGCCCCTGAATACAGCTGTAGCTGAAACCAGTTACCTGTGTGTTCCTAATTACGAGAGCCAATAAATCTCATTCTCCATTCATTCAGCTTAAGGTAGTTTGAGTTGTAGTCTCTACCACTTATGACCAAAGGAGCCCTGATCTATACAGAAATTCCATTTTTCCTCTAAGCATTAAGGAGTCAGGCACAAAAGACTACATATAGTAGAATTTCACTTGTAAGAAATGACCAGGCTTGGCCGGGAGCCGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCTGAGTGTGGTGGCGTGGCACCTGTAATCTCAGCTACTCGTGAGGCTAAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCATGCCATCGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCCAAAAAAAAAAAAAAAAAAACACTACTGAATTGTATAGTTTAAACTAGTGGATCTTAGAGTATGTGAGTTGTAACTACTAAATAAATACATAAAAAAGAAGTTTCATTATAGCCAGTGTAGCTCCCCCAGGGAGTAAATGGGAGCATCTGATCCCTCTCAGTTTCCTTGTGATAGTAATAGAAGTTACCGAAGCAAACACTGCACAATTGGAATGTGCTTTATTTCAGGGAAATATAAAGGGAAATGAATGCTATTATAACTTGGTAGAACAGAAGAAATGGCTACCTAGCTTTGCTTTCCAACTACAAACATAAATGAGGATCTCAGCATTTAAGGTAAAACATGATAAGCACAAAAGGAGAGTTCACTGGGGACTGGACTCCCTCATTTACTCTAGAAATTATGAGAACCAGCAGCAATATTCCTCAAGCATCCATCTCAACATCAAGTTCCTTTGTTTTATGTACCAGATGACCAGGAATCATAGATGAGTTTGGCTGCAACTGTGTCTTCCACTGCCATTCCTAGAATAGACAGAAATTTGGTTCGCCTTTGGTCAAAACAACTTTTCTTGAAACAACCCAGGCCCCATGGCTGGAAGTTTCCTGATACATGTCCATGTTGCCAATGCCTATTGGAATAACAGGGACTGATACCCAGAGATGAGCTCAGGCTTCAATTGTCTGCAAAGGGGCAGAGAATATGATAGTAAGAAACACCCACCAACAAATTGTGCATCTTTCTAAATCTAGCTCAGGGCTGAGCAAATTTTTTTTTTTAATTTTTTTTTTTTTCGAGATGGAGTCTCGCTCTGTTGCCCAGGCTGAAGTGCAGTGGCGCGATTTTGGCTCACTGCAAACTCTGCCTCCCAGGATCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCATGCCACCATGCCTGGCTAATTTTTTTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGACCAGGCTAGTTTCAAACTCCTGACCTCAGGCGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGCTTACAGGCATGAGCCACCACGCCTGGCCTGAACAAACTTTTCAAAAAGGGTCAGACAGTAAATCCTTTAGGCTTTGTGGGCCACAGGGTCTCTATTACAATTATTCAACTCTGCCTTTAGAGTAGAAAACACAGCCAACAGGTAAACAAAAGAGCCTGGCTGTGGGCTGTGTTCCAGTGAAATTATTGATGGGACTGAAGCTTGAATTTTGTATCATTTTCAGACATCATGAAATATTTTCTCCCCCCATTCATTTGAAAATCTAAAAACCATTTCTAGCTCATAGGCCACACAAAAGCAGGCAGCAGAGCAGGTCTGGCCCCAGGACTGTAGTTTTCTGACGCTTGGTCCAGTTTGAATGCTGCATCCTTTGATATCTCCCCTTTGTCTTGTAATTTTGGTAGATACCTTAACCTCTGCACCCAGCACAGATAATTAGGTGCTTGATACGCATCTGTTAGATGAAACAATGCACCAATAAACTGATCCCCAAAAGTAAGAAAGCAAAAATTGCCAAAAAGGACAGAACAAGTTTCTGCAGCATTTTGGCTCCTTAAGTAAGGGCTGGCTGACCTCTGATCTGCCATGACCTTTGAAGTTTTCAGACAAAACTGGATCCATGTGATGTCTTTGAACCAGGCTCCAGATAAAATTGTATTGCCTTTGTCTTCCAGTGCATGAGAGATTTTAAAGACATTTACCAACCTGCAAGGCATGGATACTTAACCAATGGCATGGGCTCTGGGTGGCCAGAGCGCTCCTGATGCTCTGCCAGGCATTTACTCTTTTGCTGCTTGATCACGAAGTATGGAAGGTCATGAGAGGGGGACAGAGGGCACTCTCGAGGGGCTCAGGATAGCAACTGTTTACCAACCAGTTTGGGAGTATTTCAGTGTTTTAGGTGTATCAGCTCTGTTCCCATGTACTTTATTTATTTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCACGATGTCAGCTCACTACAACCTCCACCTTCCGGGTTCAAGTGATTCTCCTGCCTCAACCTCCCAAGTAGCTGGGATTGCAGATGTGCACCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTTAGCTCAAGTGATCTGCCCACCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCGAGCTCAGCCTGTTCCCATGTACTTCTGTTTCCTTCAATCTCATAGGGTGGAAGAGGACCTGGGGCAAGGGACAGACTGGCCACTGGGAGCCCACCCTTTGTTGGGCTTCTATAAGGTACCCCATACAACTCAGGTGGTAGGGGGCTCCCCATGGAAGCCCTCCTCAAAGCAGCAAGTGGGAGAGTAGGGAAGGAGGGAATGAACAGGGCTTAGGCTATACTTTCCATCTGACTCTTTCAGGT
|
Task1_train_22467
|
This variant affects gene OTOA (otoancorin) located on Chromosome 16. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Autosomal recessive nonsyndromic hearing loss 22
|
CATTGTTATTAACTGTAGTCAGCATGTACAATAGATCTCCAGAACCTATTTTCCTATTTAACTGAAACATTGTGTCCTTTGTCCAAGTCTCTCCAACTCCCTTCCCACCTCCAGCCCCTGGTACCAACCATTCTAAGGCTCTGCTTCCATGAGTATGACGTTTGTTTATTTGTTTTTCAGATTCATAATATAAATGAGGTCATACAGTATTTGTCTTTCTGTGCCTAGCTTATTGCACTTAGCATAAGATCCTCCAAGTTCATCCATGGGGTCCCATATGATAGAATTTCCTTCTTTTTCAAAGCTGAAGAGCATTCCATTGTGTATCCACCAAATTAAAAAAAAAATCCATTCATCCACTGACGTGTTGGACACTTAGGATGATTCCATGTCTTGGCTGTTGTGAATAGTTATTCTCAACGTGGTTATTAACGTTCAGCCCTCACTTCCCCTGAGTCTTCTTTACTCGAAGTTAAGCAGATCTCTTTTCCTCATGAGACACACTTTCAAATCTTTTCCCTGGACCTGGCAGCTCTCCTGTGGGCATGTCTGAATATGTCAATATCGCTCTGAGAGGGTGGAGCCAGGCTGACTGTGGTCAACTAGGTAGTCTTCATTCTAACTCTAAGAGCATTCATTAATGAATGAGTGCTTGGTTTCCACCAGGATGTATGCAAATCAGTTGGTATACCACTTCTCATTTAACTTTCACAATCATCCTCTTTCTTTCACTCATGTTTATTATGATGTGCTACGATGAACAAAGAAAACCTCCCATTTATTAGAGGCTCAGAGAGGGAGAGGCACCCTGTCTCTGTACAGTATGGGAGTACAGAGTGTGCACTGCAGAACTGTGTATAGCGGCCTCACAGAGAAGTTAAGTAACTTGGTGGAGAGCAAACATCTCACAGAGCTGGGCTTCAAACTGCAGTAGGCCTGAATCAATGCTCTTAATGATTAGAAACATTGCTCTCAGTTATACCAGGGTTCCAATCTCACTTCTGCCCTTCCATTGTTTTCCTCCAGTCTTTTTTGTTTTCCTTCTGAAATCTTTGCATCATCTGGGTGGGTACCAGAAGGCATCCTAGAAACAGATCTCTGCCTCAGAGAATCCCTCAGGGTGAGATCAGCTCTAGAATTTAGTGATTGTAATGTGGAAAATGGGGAGTTTTCTGTGGCTACCGGCACCTTTCTTTCCTTATTCCCTTTATTCATCCCAGGTGGAGAGATGGCATAGGTGGATGGATCTACATTTAAGTCCCAGCTCCACCGACTTGCCTTGGACAAATCAAATCTCAGTTTCCCCATCTGTGAAATGGGGCTAATGAGAGCACCTGCCTTGTAGGGTTGCTGTAATGAGATAATGCAGGTAAACGGCTCAGTGCAAGACCTGATAAGTGGTAGCTGCTATTAATATAATCAAGACCCCATTGGTTTGGACTGGGGAGGGGGTGTCGTGTCCACCAGCTCTCAGCGCTCTGTTATGGAACCAAACTGGGTCTGTTTGCCCATGCGCAATGGAAAACCAAACACTGAAGCACTAGGTTTTTGTAGAGAGAAACGGTTACTGTGAATCAACTGCCAAGGAGACAGAAGACAGTGCTCAAATCTGTGTCTCTGAGCTGGGGACTGGGGCAGGTTTTATAGGCGGAGGGTAATGAGACTTGATCTGATTGGGTCTTGCTACAAGGTGATGCTGGGAGGTGTGATCTGATTGGATCATGCCATGAGGTGATGCCAGGACTCATTCTGATTGGATCGTGGACCATGCCATGTGGTGTCCACTTCATAATTCAGCCCCCATTCCTTGGTCTCGTCTGAGCAGTTAGGTTCCGCCTGTGGTTGCACATTTGGTTCATCTGAGGATGTTCAGGTTATGTGACCTTCAACCTGGGAGTCCGTGGCAACTGAAAAACAACTCACCATTTTATTACACAAAATTGAACCAGAATGGGCTGGTTCTGCGGTTACACCTCCACCACCATCCCTCCTCTTCTCACACAGGCTGGGGCTGCTGGTTTGTTTCTACAATGACCTGGAATTGCTGGATGCCACTGTGGCTCAAGTCCTGCTTTACCAGATGATCAAGTGCAGCCACCTGAGGGGCTTCCAGGCTGGCGTCCAGAAGGTACAGCTGGGGTGCAAGGCCCTGAGGCCTCTGCCTCAGTGTCACTAGCCAGAGAAATGGGGAGAACAGCCTAGCTTAGCCTTTGGGAGAAAACACACAGCATTAGTCGGGATTTAAGTCCAGTCACAGCAGATGGCATCTCAAATACTGAGGTAAGTGTAACATCGAAGCCCAGACAGAAAATAGCAAAGGAACAGACCCTGGGGAGATCAAAATTTAATCAGAAAGCTGTCTCAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCATTTGAGGCCAGGAGTTTGATACCAGCCTGGTCAACATCATGAGACCCTTGTCTCTGCAAAAAATACAAAAAAATGGCTGGGCACGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGTTTGAGACCAGCATGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAACAGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGGAGGCAGAGGTTGTGGCGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGCCATGTGCCTATAGTGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAGTGCCAGCCTGCAGTGAGCTATGATAGTGACTTTGCACTCTAGTTGGATGACAGAGCAAGACCCTATCTAAAAAAAAGAACAGAAAAGAAAAGAAAGGGACAGCTACTTCGAACTTAAATATGCATACAGATCACCTGGGGATCTTAAATGCAGATTCTGATTCAGGAGCTCTTGGTTGAGGCCCAGGACTCCCATCTTCCTCTTCTTCCTCCTTCTTCCCTTGGCCTCCCAAAGTGTTTGGATTACAGGTGTGAGCCATTGCGCCCAGCTGACGCTGCACTTCCAACAAGCTTCCAGGTGATTCTGGAACCGCTGCTCTGGTGAGCACACCTGGAGCGGCAGGAGATAAAGCAGTGGTTCTCAAACCTGCCTCTAGATTAGTAACATCCCTGCCAGGTGCCACCCTCAGAGAATCTGATGTTATTGTTCTGGGGTGTGGCCTGAGGTATGGCCTGATTTTAATGCTTCTCAGGTGATTTCAATGCAGCCAGGATTGAGAACACTGGATTGCAGGGTGGTTATGAGTTCCCAAGACCAGATGAGCAAACACGCTCTCTCTCATTTTCCTTCCTCTCCATCTCTCTCTTCTTCCTTCCAGTCAAGTCTCAATTCTACCCCCTTCCATTCCACTTTTTGTGGCCCTTTTCAATTTGCTTAAAATCGAAACGATGACATGAAAATAATATTAAATGAAATTTTGATAAAGCCATCAATAATTTCACAGCAGTTTCCCACACATCACCATAAAGTCCCCAAACACATTTGACATTTGAGAGTGTGGTCATCTATTTTGGTCAGCGCATCTTTTTTTTTTTTTTTATAAGATTCATTTTTTTTTTTTTTTGAGTTTCATTCTGTCACCCAGGCTGGAATGCAGTGGCATAATCTCAGCTCACTGCAACCTCCACCTTCCGGGTTCAAGTGGCACAATTTCAGCTCATTGCAACCTTCGCCTTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCATGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTTACCATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTCAGCCACCGAGCCTAGCCTGTGAATGCATATTTTTGTTTCCAAGGAAAAGAATCCGTCCTAAGCAAGCTCAAGCAAAAATAAGAAGATAAATGTATTTTAAGGCCCAGGGGTCT
|
CATTGTTATTAACTGTAGTCAGCATGTACAATAGATCTCCAGAACCTATTTTCCTATTTAACTGAAACATTGTGTCCTTTGTCCAAGTCTCTCCAACTCCCTTCCCACCTCCAGCCCCTGGTACCAACCATTCTAAGGCTCTGCTTCCATGAGTATGACGTTTGTTTATTTGTTTTTCAGATTCATAATATAAATGAGGTCATACAGTATTTGTCTTTCTGTGCCTAGCTTATTGCACTTAGCATAAGATCCTCCAAGTTCATCCATGGGGTCCCATATGATAGAATTTCCTTCTTTTTCAAAGCTGAAGAGCATTCCATTGTGTATCCACCAAATTAAAAAAAAAATCCATTCATCCACTGACGTGTTGGACACTTAGGATGATTCCATGTCTTGGCTGTTGTGAATAGTTATTCTCAACGTGGTTATTAACGTTCAGCCCTCACTTCCCCTGAGTCTTCTTTACTCGAAGTTAAGCAGATCTCTTTTCCTCATGAGACACACTTTCAAATCTTTTCCCTGGACCTGGCAGCTCTCCTGTGGGCATGTCTGAATATGTCAATATCGCTCTGAGAGGGTGGAGCCAGGCTGACTGTGGTCAACTAGGTAGTCTTCATTCTAACTCTAAGAGCATTCATTAATGAATGAGTGCTTGGTTTCCACCAGGATGTATGCAAATCAGTTGGTATACCACTTCTCATTTAACTTTCACAATCATCCTCTTTCTTTCACTCATGTTTATTATGATGTGCTACGATGAACAAAGAAAACCTCCCATTTATTAGAGGCTCAGAGAGGGAGAGGCACCCTGTCTCTGTACAGTATGGGAGTACAGAGTGTGCACTGCAGAACTGTGTATAGCGGCCTCACAGAGAAGTTAAGTAACTTGGTGGAGAGCAAACATCTCACAGAGCTGGGCTTCAAACTGCAGTAGGCCTGAATCAATGCTCTTAATGATTAGAAACATTGCTCTCAGTTATACCAGGGTTCCAATCTCACTTCTGCCCTTCCATTGTTTTCCTCCAGTCTTTTTTGTTTTCCTTCTGAAATCTTTGCATCATCTGGGTGGGTACCAGAAGGCATCCTAGAAACAGATCTCTGCCTCAGAGAATCCCTCAGGGTGAGATCAGCTCTAGAATTTAGTGATTGTAATGTGGAAAATGGGGAGTTTTCTGTGGCTACCGGCACCTTTCTTTCCTTATTCCCTTTATTCATCCCAGGTGGAGAGATGGCATAGGTGGATGGATCTACATTTAAGTCCCAGCTCCACCGACTTGCCTTGGACAAATCAAATCTCAGTTTCCCCATCTGTGAAATGGGGCTAATGAGAGCACCTGCCTTGTAGGGTTGCTGTAATGAGATAATGCAGGTAAACGGCTCAGTGCAAGACCTGATAAGTGGTAGCTGCTATTAATATAATCAAGACCCCATTGGTTTGGACTGGGGAGGGGGTGTCGTGTCCACCAGCTCTCAGCGCTCTGTTATGGAACCAAACTGGGTCTGTTTGCCCATGCGCAATGGAAAACCAAACACTGAAGCACTAGGTTTTTGTAGAGAGAAACGGTTACTGTGAATCAACTGCCAAGGAGACAGAAGACAGTGCTCAAATCTGTGTCTCTGAGCTGGGGACTGGGGCAGGTTTTATAGGCGGAGGGTAATGAGACTTGATCTGATTGGGTCTTGCTACAAGGTGATGCTGGGAGGTGTGATCTGATTGGATCATGCCATGAGGTGATGCCAGGACTCATTCTGATTGGATCGTGGACCATGCCATGTGGTGTCCACTTCATAATTCAGCCCCCATTCCTTGGTCTCGTCTGAGCAGTTAGGTTCCGCCTGTGGTTGCACATTTGGTTCATCTGAGGATGTTCAGGTTATGTGACCTTCAACCTGGGAGTCCGTGGCAACTGAAAAACAACTCACCATTTTATTACACAAAATTGAACCAGAATGGGCTGGTTCTGCGGTTACACCTCCACCACCATCCCTCCTCTTCTCACACAGGCTGGGGCTGCTGGTTTGTTTCTACAATGACCTGGAATTGCTGGTTGCCACTGTGGCTCAAGTCCTGCTTTACCAGATGATCAAGTGCAGCCACCTGAGGGGCTTCCAGGCTGGCGTCCAGAAGGTACAGCTGGGGTGCAAGGCCCTGAGGCCTCTGCCTCAGTGTCACTAGCCAGAGAAATGGGGAGAACAGCCTAGCTTAGCCTTTGGGAGAAAACACACAGCATTAGTCGGGATTTAAGTCCAGTCACAGCAGATGGCATCTCAAATACTGAGGTAAGTGTAACATCGAAGCCCAGACAGAAAATAGCAAAGGAACAGACCCTGGGGAGATCAAAATTTAATCAGAAAGCTGTCTCAGCCAGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCATTTGAGGCCAGGAGTTTGATACCAGCCTGGTCAACATCATGAGACCCTTGTCTCTGCAAAAAATACAAAAAAATGGCTGGGCACGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACCTGAGGTCAGTTTGAGACCAGCATGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAACAGGCGTGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAGCCTGGGAGGCAGAGGTTGTGGCGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAGAAAAAAAAAAAAGCCATGTGCCTATAGTGCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCGCTTGAGCCCAGGAGTGCCAGCCTGCAGTGAGCTATGATAGTGACTTTGCACTCTAGTTGGATGACAGAGCAAGACCCTATCTAAAAAAAAGAACAGAAAAGAAAAGAAAGGGACAGCTACTTCGAACTTAAATATGCATACAGATCACCTGGGGATCTTAAATGCAGATTCTGATTCAGGAGCTCTTGGTTGAGGCCCAGGACTCCCATCTTCCTCTTCTTCCTCCTTCTTCCCTTGGCCTCCCAAAGTGTTTGGATTACAGGTGTGAGCCATTGCGCCCAGCTGACGCTGCACTTCCAACAAGCTTCCAGGTGATTCTGGAACCGCTGCTCTGGTGAGCACACCTGGAGCGGCAGGAGATAAAGCAGTGGTTCTCAAACCTGCCTCTAGATTAGTAACATCCCTGCCAGGTGCCACCCTCAGAGAATCTGATGTTATTGTTCTGGGGTGTGGCCTGAGGTATGGCCTGATTTTAATGCTTCTCAGGTGATTTCAATGCAGCCAGGATTGAGAACACTGGATTGCAGGGTGGTTATGAGTTCCCAAGACCAGATGAGCAAACACGCTCTCTCTCATTTTCCTTCCTCTCCATCTCTCTCTTCTTCCTTCCAGTCAAGTCTCAATTCTACCCCCTTCCATTCCACTTTTTGTGGCCCTTTTCAATTTGCTTAAAATCGAAACGATGACATGAAAATAATATTAAATGAAATTTTGATAAAGCCATCAATAATTTCACAGCAGTTTCCCACACATCACCATAAAGTCCCCAAACACATTTGACATTTGAGAGTGTGGTCATCTATTTTGGTCAGCGCATCTTTTTTTTTTTTTTTATAAGATTCATTTTTTTTTTTTTTTGAGTTTCATTCTGTCACCCAGGCTGGAATGCAGTGGCATAATCTCAGCTCACTGCAACCTCCACCTTCCGGGTTCAAGTGGCACAATTTCAGCTCATTGCAACCTTCGCCTTGCCTCAGCCTCTGGAGTAGCTGGGACTACAGGTGCATGCCACCATGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGGTTTTACCATGTTGACTAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCTGCCTTGGCCTCCCAAAGTACTGGGATTACAGGCGTCAGCCACCGAGCCTAGCCTGTGAATGCATATTTTTGTTTCCAAGGAAAAGAATCCGTCCTAAGCAAGCTCAAGCAAAAATAAGAAGATAAATGTATTTTAAGGCCCAGGGGTCT
|
Task1_train_22468
|
A variant has been detected on Chromosome 16 in PDZD9, UQCRC2 (PDZ domain containing 9| ubiquinol-cytochrome c reductase core protein 2). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 5
|
TCAACAAAAAAGGTTGTGGATGGGGTGATCTGACACTTTTTCAAAAAATGCCAAAGCTTTAGAACTACACAGAACCATGAAACTTTTATAAGGTAACTGAAAGATAAGAAAATACAGTGATTCTTTACATCATTTAAAAAATAAGCATCAAGAACTCTATAAATCACTAATAAATAGAGGTTTAAGAATGGCTTGGGTAAACTGGTGGGTTAGTAAGTCCATAATAAGTTATGCAGCTAGGCGGGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGACCAAGGTGGGCAGATCACTTAAGATCAGGAGTTCAAGACCAGCTTGGCCAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAACAAAAACTAGCTGGACATGGTGGCACGCACCTGTAATTCCAGCTATTTGGGAGGCTAAGGCAGGAGAATGGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGAGCGACAGAGAGACACTCTGTCTCAAAAAAAAAAAAAAAATGTTATGCAGGTAAATCCTCCCATGGAGGTGGTTATTGCTCCTTCCACCCCCGAACACCCTCTGTCGCTTGGGTACCCTAAGATACCATGCTTTTATATAAAGCACTGTTCTTGTGAGAAATACGTGTAACCTGTGTTTTTTATGTTTAGAGATTTTATTCCCTCAAAGTTGCCCCCAAAGTTAAAGCCACAGCTGCGCCTGCAGGAGCACCGCCACAACCTCAGGACCTTGAGGTTAGTCCCACTAACTTGCTCGCTGGAAGCTATACATGCCTTACTCTCCTTGGTAATACGAAGACATTCATTATATCTCTACTTTATTTTAAATACAGTTTACCAAGTTACCAAATGGCTTGGTGATTGCTTCTTTGGAAAACTATTCTCCTGTATCAAGAATTGGTTTGTTCATTAAAGCAGGCAGTAGATATGAGGACTTCAGCAATTTAGGAACCACCCATTTGCTGCGTCTTACATCCAGTCTGGTGAGTATCTTCACTTCCTCAAGTGTTTGGAAATGCTGTGGTATCTTGGTCCTGTGAAAAAGAAAAACTAAGATCAATGTCTTTATATTTTGATTCCTTGACCTGCCATAACAAATTACCACGGACTGGGTAGCTTAAACCAAATAAGTTTATCCTGTTACAGTTCTAGAGGCTAGAAGTCCAAGTCAAGGTGTCTAAGCCAAGCCAAGATATCAGCAGGGCTGTGATCCCTCTAAAGGTTCTAGGAAGGCACAAATCCTCCCCTGCCTGTTCCTAGCTTCCAGCAGTTGCCCACAACCCTTCATGTTCCTTGACCTGCAACTGCATCACTGCAGTCTCTGCCTTTGTTGTCACATGGCCTTCCTTCTGTCTGTGTCCACATTTCCTCCTGATAAGGATACCAGTTACATTAGATTTAGTGCCCACTATAATTCAATATGATGTCATCTTAAGTACTTAAATCTGCAGAGACCTTATTACCAAATAAAGTAACATGCAAATATTCTGGCTGGACATAAATTTGGGGGGGAACACTGTTAAACCCAGTACTGTCCCCTAATGTAAAATGAGAAACCACAAGATATTTGCCACAGAGAAGCACTAAATTAGTATCCATATGAATGTTGATGTTAGAGCATAAGAAATCAGTAAACAAATTTTTAACAGGAAGTGCCGCAAATTGAAAGAAAATTAACTCTTTTTTTCCCATATACAAGTCTCTTTCAGAATAGACTAATGAATCCAGTAAGCTTGTATTTGACAGTGGAAATTTTACATGAATGTACTTAATGTAAAAATGTATACTTAAGCTTTTTGTTGAGCCTTGTTTTATAATTCTTAACTAAAAAGGATGCAGGAATTTAGTAAAATTCTTTTTAAATCTGCTCACAACAGATTTTGATATAGTGTGATGTTTGGCAAACTTGGCATTGAAAAGCTACAAAGATAATCATTCTTTCTTTTTCAAGACGACAAAAGGAGCTTCATCTTTCAAGATAACCCGTGGAATTGAAGCAGTTGGTGGCAAATTAAGGTTTGTTAAATAAGTAATAGAAAATAGTGAAAATGCCAGAAAATATTCAATTTTAAGGGAACTTTTCTCTGTTATCAAGGAGGTTGAGGATTTCTTAAGCAACATAAGAAGGAAAAGACTGATGAATTTGAGTATATCAAACTGTAAAACATCTTTATGTCTTAAAGTAAAAATTTAAGTAACTGTCTGGGAGTAGATATCTGCAATATATAGGCATACCTCAGAGATGTTGCAGGTTCTGTTCCAGACCACCACAATGAAGGGAATATTGCAGCAAAGCAAGTCATAGGAATTTTGTGGTTTCCCAGTGCATATAAAAGTTATGTTTACACTATACTGTGGTCTACTAAGTGTACAATGACATTTTGTCTTGGAAAAAAAGTACATAACCTTAATTTTAAAATATTTTATTGCTTTAAAAATGTTAACAGTTATCTGAATCTTCAGCAAGTCATAATCTTTGCTGGTGGAGGGTCTTGCCTCCACGTTAATGGCTGATGACTGATCAAGGTGGTGGTTGCTGAAGGTGGTGGTGACTGATAATTTCTTAAAATCAGACAACAGTGAAGTTTGCTGCATTGATTGACTCTTCCTTTTGTGAAAGACTTCTCTGTAGCATGAGATGTTGTTTTTAGCCGTTTACCCACAGAACTTCTTTCAAAATTAGTCAGTCATCTCAAACCTTACCACTTTTTTATCAACCAAGATTATGTAATATTCTTTTTTATCATTTCGACAGTGTTCACAGCATCTTCAACCAGGAGCAGATTCTATCTCAAGAAACCACTTTGTTTGCTCATCCATAAGAAGCATCTCCTCATCTGTTCAAGCTTTATCATAAGATTGCAGCCATTCAGTCACATCTTCAGGCCCCACTTCTAGTTCTCTTGCTACTCCCACCATAGTTGCAGTTTCTTCCCCCTCTGAAGTCTTGCCTCTCAGAGTCATCCATAAGGGTTGGAATTGGCTTCTTCCAAACTCACGTTAATGTTGATACTTTGACATCCTCCCATGAGTCACAAATGTTCTTAATGGTGTCTAGAATGGTGAATTCTTTCCAGAAAGTTTTTTAATTTACTTTGCCCAGATCCATCAGCGTCTTCACTATCTGTGGTAGCTGTAGCCTTACAAAATGTATTTCTTAAATAATAAGACTTGAAAATAAAAATTACTCCTTGATCCATGGGGTGCAGAAGGGATGTTCTATTAGCAGGCATGAAAACAGTGTCAATCTCCTTGTACATCTGCATCAGAGCTCTTGGCATTGTTGCAGTAATAATTTGAAAGGAATCTTTTTTCTGAGCAATGGGCTTAAAATATTCAGTCAACCATGCTATAAACAGATGTACTATCATCCAGGCTTTTTTGTTCATTTACAGAGCATAGGCAGAGTAGATTTAGCATAATTCCTAAGGGCTCTAGGATTTTGAGAATGGTAAATGACCTCATCCTAAAGTCACCAGCTGCATTAGTCCCCAACAAGAGTCAGCTTGTCGTTTGAAGCTTTGACGCCAGGCATTGACTTCTCTAGCTACGAATGTCCTGGACGGCATCTTCCAATGTAAGGCTGTTTTGTCAGCATTGAAAATCTGTGGTTTAGTGTAGCCACCTTCATCGATGATCTTATGTAGATCTTCTGGATAACGTGCTGCAGCTTCTATATTAGCATTTGCTGCTTCACTGTGTACTATTATATTAAGAAGATGGCTTCTTTCCTTAAAGCTCATGAACTAACCACGGCTAGCTTCAGACTTTTCTTCTGCATCTCACCTCTCTCAGCCTTCATATAATTGAAGAGAGTTAGGGCATTGCTCTGGATTAAGCTTTGACTTAAGGGAATACAGTTTGATCTAATCCAGACCAGTAAAACTCTGTATTATCAGCAATAAGTCTGTCTTGCTTTCATATCATTTATGTGTTCAGTGGAGTAGCACTATTAGTTTTCTTCAAGAACTGCACTGGTGCAAGAGGCCTAGCTTTTGACCTGTATCCGTTTTTAACATGCCTTCCTGACTTCCTTAGAAGCTTAATCCTTTCT
|
TCAACAAAAAAGGTTGTGGATGGGGTGATCTGACACTTTTTCAAAAAATGCCAAAGCTTTAGAACTACACAGAACCATGAAACTTTTATAAGGTAACTGAAAGATAAGAAAATACAGTGATTCTTTACATCATTTAAAAAATAAGCATCAAGAACTCTATAAATCACTAATAAATAGAGGTTTAAGAATGGCTTGGGTAAACTGGTGGGTTAGTAAGTCCATAATAAGTTATGCAGCTAGGCGGGGTGCAGTGGCTCACGCCTGTAATTCCAACACTTTGGGAGACCAAGGTGGGCAGATCACTTAAGATCAGGAGTTCAAGACCAGCTTGGCCAACACAGTGAAACCCCATCTCTACTAAAAAATACAAAACAAAAACTAGCTGGACATGGTGGCACGCACCTGTAATTCCAGCTATTTGGGAGGCTAAGGCAGGAGAATGGCTTGAACCCAGGAGGTAGAGGTTGCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGAGCGACAGAGAGACACTCTGTCTCAAAAAAAAAAAAAAAATGTTATGCAGGTAAATCCTCCCATGGAGGTGGTTATTGCTCCTTCCACCCCCGAACACCCTCTGTCGCTTGGGTACCCTAAGATACCATGCTTTTATATAAAGCACTGTTCTTGTGAGAAATACGTGTAACCTGTGTTTTTTATGTTTAGAGATTTTATTCCCTCAAAGTTGCCCCCAAAGTTAAAGCCACAGCTGCGCCTGCAGGAGCACCGCCACAACCTCAGGACCTTGAGGTTAGTCCCACTAACTTGCTCGCTGGAAGCTATACATGCCTTACTCTCCTTGGTAATACGAAGACATTCATTATATCTCTACTTTATTTTAAATACAGTTTACCAAGTTACCAAATGGCTTGGTGATTGCTTCTTTGGAAAACTATTCTCCTGTATCAAGAATTGGTTTGTTCATTAAAGCAGGCAGTAGATATGAGGACTTCAGCAATTTAGGAACCACCCATTTGCTGCGTCTTACATCCAGTCTGGTGAGTATCTTCACTTCCTCAAGTGTTTGGAAATGCTGTGGTATCTTGGTCCTGTGAAAAAGAAAAACTAAGATCAATGTCTTTATATTTTGATTCCTTGACCTGCCATAACAAATTACCACGGACTGGGTAGCTTAAACCAAATAAGTTTATCCTGTTACAGTTCTAGAGGCTAGAAGTCCAAGTCAAGGTGTCTAAGCCAAGCCAAGATATCAGCAGGGCTGTGATCCCTCTAAAGGTTCTAGGAAGGCACAAATCCTCCCCTGCCTGTTCCTAGCTTCCAGCAGTTGCCCACAACCCTTCATGTTCCTTGACCTGCAACTGCATCACTGCAGTCTCTGCCTTTGTTGTCACATGGCCTTCCTTCTGTCTGTGTCCACATTTCCTCCTGATAAGGATACCAGTTACATTAGATTTAGTGCCCACTATAATTCAATATGATGTCATCTTAAGTACTTAAATCTGCAGAGACCTTATTACCAAATAAAGTAACATGCAAATATTCTGGCTGGACATAAATTTGGGGGGGAACACTGTTAAACCCAGTACTGTCCCCTAATGTAAAATGAGAAACCACAAGATATTTGCCACAGAGAAGCACTAAATTAGTATCCATATGAATGTTGATGTTAGAGCATAAGAAATCAGTAAACAAATTTTTAACAGGAAGTGCCGCAAATTGAAAGAAAATTAACTCTTTTTTTCCCATATACAAGTCTCTTTCAGAATAGACTAATGAATCCAGTAAGCTTGTATTTGACAGTGGAAATTTTACATGAATGTACTTAATGTAAAAATGTATACTTAAGCTTTTTGTTGAGCCTTGTTTTATAATTCTTAACTAAAAAGGATGCAGGAATTTAGTAAAATTCTTTTTAAATCTGCTCACAACAGATTTTGATATAGTGTGATGTTTGGCAAACTTGGCATTGAAAAGCTACAAAGATAATCATTCTTTCTTTTTCAAGACGACAAAAGGAGCTTCATCTTTCAAGATAACCCGTGGAATTGAAGCAGTTGGTGACAAATTAAGGTTTGTTAAATAAGTAATAGAAAATAGTGAAAATGCCAGAAAATATTCAATTTTAAGGGAACTTTTCTCTGTTATCAAGGAGGTTGAGGATTTCTTAAGCAACATAAGAAGGAAAAGACTGATGAATTTGAGTATATCAAACTGTAAAACATCTTTATGTCTTAAAGTAAAAATTTAAGTAACTGTCTGGGAGTAGATATCTGCAATATATAGGCATACCTCAGAGATGTTGCAGGTTCTGTTCCAGACCACCACAATGAAGGGAATATTGCAGCAAAGCAAGTCATAGGAATTTTGTGGTTTCCCAGTGCATATAAAAGTTATGTTTACACTATACTGTGGTCTACTAAGTGTACAATGACATTTTGTCTTGGAAAAAAAGTACATAACCTTAATTTTAAAATATTTTATTGCTTTAAAAATGTTAACAGTTATCTGAATCTTCAGCAAGTCATAATCTTTGCTGGTGGAGGGTCTTGCCTCCACGTTAATGGCTGATGACTGATCAAGGTGGTGGTTGCTGAAGGTGGTGGTGACTGATAATTTCTTAAAATCAGACAACAGTGAAGTTTGCTGCATTGATTGACTCTTCCTTTTGTGAAAGACTTCTCTGTAGCATGAGATGTTGTTTTTAGCCGTTTACCCACAGAACTTCTTTCAAAATTAGTCAGTCATCTCAAACCTTACCACTTTTTTATCAACCAAGATTATGTAATATTCTTTTTTATCATTTCGACAGTGTTCACAGCATCTTCAACCAGGAGCAGATTCTATCTCAAGAAACCACTTTGTTTGCTCATCCATAAGAAGCATCTCCTCATCTGTTCAAGCTTTATCATAAGATTGCAGCCATTCAGTCACATCTTCAGGCCCCACTTCTAGTTCTCTTGCTACTCCCACCATAGTTGCAGTTTCTTCCCCCTCTGAAGTCTTGCCTCTCAGAGTCATCCATAAGGGTTGGAATTGGCTTCTTCCAAACTCACGTTAATGTTGATACTTTGACATCCTCCCATGAGTCACAAATGTTCTTAATGGTGTCTAGAATGGTGAATTCTTTCCAGAAAGTTTTTTAATTTACTTTGCCCAGATCCATCAGCGTCTTCACTATCTGTGGTAGCTGTAGCCTTACAAAATGTATTTCTTAAATAATAAGACTTGAAAATAAAAATTACTCCTTGATCCATGGGGTGCAGAAGGGATGTTCTATTAGCAGGCATGAAAACAGTGTCAATCTCCTTGTACATCTGCATCAGAGCTCTTGGCATTGTTGCAGTAATAATTTGAAAGGAATCTTTTTTCTGAGCAATGGGCTTAAAATATTCAGTCAACCATGCTATAAACAGATGTACTATCATCCAGGCTTTTTTGTTCATTTACAGAGCATAGGCAGAGTAGATTTAGCATAATTCCTAAGGGCTCTAGGATTTTGAGAATGGTAAATGACCTCATCCTAAAGTCACCAGCTGCATTAGTCCCCAACAAGAGTCAGCTTGTCGTTTGAAGCTTTGACGCCAGGCATTGACTTCTCTAGCTACGAATGTCCTGGACGGCATCTTCCAATGTAAGGCTGTTTTGTCAGCATTGAAAATCTGTGGTTTAGTGTAGCCACCTTCATCGATGATCTTATGTAGATCTTCTGGATAACGTGCTGCAGCTTCTATATTAGCATTTGCTGCTTCACTGTGTACTATTATATTAAGAAGATGGCTTCTTTCCTTAAAGCTCATGAACTAACCACGGCTAGCTTCAGACTTTTCTTCTGCATCTCACCTCTCTCAGCCTTCATATAATTGAAGAGAGTTAGGGCATTGCTCTGGATTAAGCTTTGACTTAAGGGAATACAGTTTGATCTAATCCAGACCAGTAAAACTCTGTATTATCAGCAATAAGTCTGTCTTGCTTTCATATCATTTATGTGTTCAGTGGAGTAGCACTATTAGTTTTCTTCAAGAACTGCACTGGTGCAAGAGGCCTAGCTTTTGACCTGTATCCGTTTTTAACATGCCTTCCTGACTTCCTTAGAAGCTTAATCCTTTCT
|
Task1_train_22469
|
This genomic variant is located on Chromosome 16, within the PDZD9, UQCRC2 (PDZ domain containing 9| ubiquinol-cytochrome c reductase core protein 2) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 5
|
CATGTTTGATGGTAAGTAAATTGTTTGTAAGATCCTAGAAGTTTTTCCTGTTTCCTTCCCAATGTTTTGTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGGGTGTTGCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAGCCTGAACCTTCTGGACTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCGCACCCTGCTAATTTTTATTTTTATTTTTTTATAGAGATGAGGTCTCACTCTATTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGACCCCTAGTGATTTTTAAGAGTTGTTTTGCTTACCCCAAATCCTACACCAGTTTATTGCTGCTGCTATTATTGCTTACTATTGTATTGCTATTATTGTTTAGCCATCTCCTCTTTATTGAGTCTTTCCAAAGTAAGTAACTTAATTTTTTTAATAGGAATCTTTTTTGCATTCATATTTTATGTTTATATAATGTCTAATTATATAATCTTGACAAGTACAACTGGTAATACAAGTCTGTAAGCAAGCGCCGCTGACTCTTGGGAGTCATACAACTTCTGGTGGGAGCAGAAATGTGCAGGAAGAGCAGAAATAGCTCAACTCAGTGGTTCAGCATGGGACAGGCTCCCCTCCACATGCAGGCCTGGGGACTGATGTTATTTCATGATGATGCTTGGTGTCACAGAGGAGCATTATCTTTGTTGCTCAGGATTTCTACTGAAGAAATAGATAGAATAGTACAATTTTAGAAAAGATGACCTATGTGTCCAGAGTGGCTTCTTCCCCACTGGCGGCAGTGAGGCACCAGCCTGCATCTATTCTGCCTGAACAGTTACTGTGTAGTCTCCTGGCTGGTGTCAGCCTCCAGGTTTACGTCTTGAGTCCATCTCCCACACGGCCATTACAGTGATCCTTCTGACGTGAAAGTAAGCCTTCTTATTATCTATGGGATAAAGTCCAAACAGCATATACGTATATGGCCTTGCGTGATCTTACCCCAGCCCACTTCTCTTACTTTATGCTCTACCCTCTTCTCCTTCCAGCTGCAATTCCCATTTGAATCAAATTATTGTTATACTTTATGCCTTTGTTTTGTCTGCTTCCTGTGCCTAAAATGCTGTTCCCAAATGATTTCCCCTGGGAAACACCAGCTCATTCTGTAAGATGGATCCCACATATTACTTGTATTAATTGTTTTCCAATTCCCACTGCCCTTGCCTTGTACCTCTACTGCACTTTTGACACACTGCCGACATTGCACCCATAATACTTTATTTCACAGTTTTTCCTCTTAAAATTTGAGGGCAGGCATTGTATGTTCCACATCTCTGTATTTCTAGCACCTAGCACAGTGCCTCGCATAGGCAAGTTGCCAGGTAATGAGCAACTGAAGGAAATACTGCAGGCAAAAAGGCATTGAAGCAAGAAAGCAGGGAAAGCACCAAGCACCACAGAGGAGTAAGTCCCAGTGGAAGCTCCCATTGGTCCCCTGAAAGCTACCTGACAATCTCCTTATTACCTAGAGAGGAAACCTAGGAGTAAGTAAAATTCAGATTAAATGACTTGTCCAAGGTCACATGGCAAGATGGCGGCAGAACCATAACTAGATGGGGACTTCCCAAAACCCAGGCCAGTATACCTTCCAAGTGATACCAGCTAGGTTAAAGTTAGAAAAGTGGTTTAGGTGGACTCCAGTATATAGAAGCTGCTGCCATGTAATCTTTTTTATTTTTTTCTCAGCACATTCTACTGGCAGAAACTGGCAGTTACTAGAGGTTAAATAATAATAAATTTTAAGTCCTCTTAACATATGAATGCCAGAAGATGACCAAATTTGTATAGGCTTGTTGCTTTCTAGGTTTTAAAAATGTTGTCTTTACTGAAAGTGCATTTCCCTAAATGCTTCTTCACTTATCTCACAGATGTCATTGAAAATTTGCATGCAGCAGCTTACCGGAATGCCTTGGCTAATCCCTTGTATTGTCCTGACTATAGGATTGGAAAAGTGACATCAGAGGAGGTACCAATAAAACATATTTTGAAATGTGCTTGTTTTTCACATTAAATTGAACATCTCCCATTTCAGGTTTGTTTGTTAATTTTTCCTTTTATCTTCTAACTTTAAGAAATTCAGCGTGCTAGCTTTTTCATCCACCTGCTTTTTAACTAAAATTTTATCTGAACAATTTTTGTGTCTCCTTTAAGAAATGTTTTCATGACTAAAGGGACATGATCATTACAGAAAAATTAAAAAGTAAAATCAAACAAAATGAAGGGAAAGAAAACATCTCACATACCTAAAGGCACTCAGTGTTAATACCTGGTATATTTTCTTCTAAACCGTTTTCTGTGTGTATGTATCTTTTTTGTTTGTTTGTTTTAAATACGGGGTCTTGCTGTGTTGCCTAGGCTGGTCTTGAACTCTTAAGCTCAAGCAGTCCTTCTGCCTATGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACCCAGCCTGTGTATCTTTTTTAAACAGTATTTAAATGTTTAAGTATCATAATAGGGGCTGGGCCCAGTGGCTCATGCGTGTAATCTCAGCACTTTGGGAGGCCAAGACAGAGGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAAAAAATATATATATATGTGTGTGTGTATACATATATATAAAATAGGTCCTTTGACTAAAACTCTTTGGTCTCTCTGAATTTGTAAATAAGACTTGAGCCCACTTCCTTAGCTCCTGTTCCATCCTCGCTCACTCATTCACGTTCTTCAGCACACCAGCCTCCGTTTGCTGGCTATAGGGGTTTGTCACATGCCACAGCCATATGTGCATCTTAGAACTTTGTTTCCAAAACATGAAACATTGAATGCTAAATCTACAAGTGTAGATATGTGCGTATAATCTTAATTTCCTATTCCTACCACCCAGACCCAAAAACAAATTTTATCAAAAGACATTAAGAGAAAAATTTGTAATTATCAACACCTTCAAAGTATATCTGACTCAAAAATTCAAGGTTTTTATTCTCGTTTTATTCTTAGTTAGCTGTTACAGAAAACTAAACTGTATCCCTTGCTCTTTTTGACTTATCAATTAACAGTTTGATGCCTTTCATTCATATGGCACTTTTATTTAGAAATTTTAACTTACATCATCCAACTTGAACAGGCAGCCGTTTTCATAAGACTGGACTCTAATGAGTTTTGAAATTTTTCAGAAATCAAATTCACCCTCATGAAGATGTGTCATTAAGTTAGCTAAAACTTAGCAAAAGTTTATCTACAAGGATGGCTATTGTAATACTAGTTTATAATTGTGAAAAATTAGAAACAAGTTAATATCCAGCATTAGGGAACTAGTTAAATAACTTATAGAATGGAACAGTATTCAACCATTCAAAAATATTAGTTGATACATAAAACTCCACAGCATGTTGTCACATAAAGCAATTTATGGATTAGGACATACCAAAAGGTCCCTTTTTTTTAATAAAAGGTATGTATGTATGCATTATAGACAAATATCAAGATGTTAACTGTGATAACTTGGTTATCTCAAAGTTAATAGTATTTTTTAAATGTGTCCCTAGGCTAAAGGAAACTCTAAAGAAATTGGCGCTAGAATACTTGGAGCAATGGCAGCATCAATAGAAAAACATCAATAGAAAAAGAGTATGACTTTCCAAGGTTACTCCATAGGTACAGACACCATTCATTTTAGGGCACGGATTATGATAAATTGATTAAAAGTTCAGTTTCATTACTTTAGCCCAGTGATTCTCAAAACGTTATCACTTTCCTTCCTGAGGAGCCTTTCTAGCCATTTTTTTCTAAACCTCTTACTTTTAATACCACAGATAGAGTTTATGTGCTGTATATTTGTACTTTTTACATAGAAGTCGTAAGTTTTTTTTTTTTCTTAGTTACCCCAAACCAATTTTCACCCATCTGGAAAG
|
CATGTTTGATGGTAAGTAAATTGTTTGTAAGATCCTAGAAGTTTTTCCTGTTTCCTTCCCAATGTTTTGTTTTTGTTTGTTTGTTTGTTTGTTTTTGAGACAGGGTGTTGCTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCACTGCAGCCTGAACCTTCTGGACTCAGGTGATCCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCGCACCCTGCTAATTTTTATTTTTATTTTTTTATAGAGATGAGGTCTCACTCTATTGCCCAGGCTGGTCTCGAACTCCTGGGCTGAAGTGATCCTCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCTGACCCCTAGTGATTTTTAAGAGTTGTTTTGCTTACCCCAAATCCTACACCAGTTTATTGCTGCTGCTATTATTGCTTACTATTGTATTGCTATTATTGTTTAGCCATCTCCTCTTTATTGAGTCTTTCCAAAGTAAGTAACTTAATTTTTTTAATAGGAATCTTTTTTGCATTCATATTTTATGTTTATATAATGTCTAATTATATAATCTTGACAAGTACAACTGGTAATACAAGTCTGTAAGCAAGCGCCGCTGACTCTTGGGAGTCATACAACTTCTGGTGGGAGCAGAAATGTGCAGGAAGAGCAGAAATAGCTCAACTCAGTGGTTCAGCATGGGACAGGCTCCCCTCCACATGCAGGCCTGGGGACTGATGTTATTTCATGATGATGCTTGGTGTCACAGAGGAGCATTATCTTTGTTGCTCAGGATTTCTACTGAAGAAATAGATAGAATAGTACAATTTTAGAAAAGATGACCTATGTGTCCAGAGTGGCTTCTTCCCCACTGGCGGCAGTGAGGCACCAGCCTGCATCTATTCTGCCTGAACAGTTACTGTGTAGTCTCCTGGCTGGTGTCAGCCTCCAGGTTTACGTCTTGAGTCCATCTCCCACACGGCCATTACAGTGATCCTTCTGACGTGAAAGTAAGCCTTCTTATTATCTATGGGATAAAGTCCAAACAGCATATACGTATATGGCCTTGCGTGATCTTACCCCAGCCCACTTCTCTTACTTTATGCTCTACCCTCTTCTCCTTCCAGCTGCAATTCCCATTTGAATCAAATTATTGTTATACTTTATGCCTTTGTTTTGTCTGCTTCCTGTGCCTAAAATGCTGTTCCCAAATGATTTCCCCTGGGAAACACCAGCTCATTCTGTAAGATGGATCCCACATATTACTTGTATTAATTGTTTTCCAATTCCCACTGCCCTTGCCTTGTACCTCTACTGCACTTTTGACACACTGCCGACATTGCACCCATAATACTTTATTTCACAGTTTTTCCTCTTAAAATTTGAGGGCAGGCATTGTATGTTCCACATCTCTGTATTTCTAGCACCTAGCACAGTGCCTCGCATAGGCAAGTTGCCAGGTAATGAGCAACTGAAGGAAATACTGCAGGCAAAAAGGCATTGAAGCAAGAAAGCAGGGAAAGCACCAAGCACCACAGAGGAGTAAGTCCCAGTGGAAGCTCCCATTGGTCCCCTGAAAGCTACCTGACAATCTCCTTATTACCTAGAGAGGAAACCTAGGAGTAAGTAAAATTCAGATTAAATGACTTGTCCAAGGTCACATGGCAAGATGGCGGCAGAACCATAACTAGATGGGGACTTCCCAAAACCCAGGCCAGTATACCTTCCAAGTGATACCAGCTAGGTTAAAGTTAGAAAAGTGGTTTAGGTGGACTCCAGTATATAGAAGCTGCTGCCATGTAATCTTTTTTATTTTTTTCTCAGCACATTCTACTGGCAGAAACTGGCAGTTACTAGAGGTTAAATAATAATAAATTTTAAGTCCTCTTAACATATGAATGCCAGAAGATGACCAAATTTGTATAGGCTTGTTGCTTTCTAGGTTTTAAAAATGTTGTCTTTACTGAAAGTGCATTTCCCTAAATGCTTCTTCACTTATCTCACAGATGTCATTGAAAATTTGCATGCAGCAGCTTACTGGAATGCCTTGGCTAATCCCTTGTATTGTCCTGACTATAGGATTGGAAAAGTGACATCAGAGGAGGTACCAATAAAACATATTTTGAAATGTGCTTGTTTTTCACATTAAATTGAACATCTCCCATTTCAGGTTTGTTTGTTAATTTTTCCTTTTATCTTCTAACTTTAAGAAATTCAGCGTGCTAGCTTTTTCATCCACCTGCTTTTTAACTAAAATTTTATCTGAACAATTTTTGTGTCTCCTTTAAGAAATGTTTTCATGACTAAAGGGACATGATCATTACAGAAAAATTAAAAAGTAAAATCAAACAAAATGAAGGGAAAGAAAACATCTCACATACCTAAAGGCACTCAGTGTTAATACCTGGTATATTTTCTTCTAAACCGTTTTCTGTGTGTATGTATCTTTTTTGTTTGTTTGTTTTAAATACGGGGTCTTGCTGTGTTGCCTAGGCTGGTCTTGAACTCTTAAGCTCAAGCAGTCCTTCTGCCTATGCCTCTCAAAGTGCTGGGATTACAGGCATGAGCCATTGCACCCAGCCTGTGTATCTTTTTTAAACAGTATTTAAATGTTTAAGTATCATAATAGGGGCTGGGCCCAGTGGCTCATGCGTGTAATCTCAGCACTTTGGGAGGCCAAGACAGAGGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAGACCCTGTCTCTACAAAAAAAAAATATATATATATGTGTGTGTGTATACATATATATAAAATAGGTCCTTTGACTAAAACTCTTTGGTCTCTCTGAATTTGTAAATAAGACTTGAGCCCACTTCCTTAGCTCCTGTTCCATCCTCGCTCACTCATTCACGTTCTTCAGCACACCAGCCTCCGTTTGCTGGCTATAGGGGTTTGTCACATGCCACAGCCATATGTGCATCTTAGAACTTTGTTTCCAAAACATGAAACATTGAATGCTAAATCTACAAGTGTAGATATGTGCGTATAATCTTAATTTCCTATTCCTACCACCCAGACCCAAAAACAAATTTTATCAAAAGACATTAAGAGAAAAATTTGTAATTATCAACACCTTCAAAGTATATCTGACTCAAAAATTCAAGGTTTTTATTCTCGTTTTATTCTTAGTTAGCTGTTACAGAAAACTAAACTGTATCCCTTGCTCTTTTTGACTTATCAATTAACAGTTTGATGCCTTTCATTCATATGGCACTTTTATTTAGAAATTTTAACTTACATCATCCAACTTGAACAGGCAGCCGTTTTCATAAGACTGGACTCTAATGAGTTTTGAAATTTTTCAGAAATCAAATTCACCCTCATGAAGATGTGTCATTAAGTTAGCTAAAACTTAGCAAAAGTTTATCTACAAGGATGGCTATTGTAATACTAGTTTATAATTGTGAAAAATTAGAAACAAGTTAATATCCAGCATTAGGGAACTAGTTAAATAACTTATAGAATGGAACAGTATTCAACCATTCAAAAATATTAGTTGATACATAAAACTCCACAGCATGTTGTCACATAAAGCAATTTATGGATTAGGACATACCAAAAGGTCCCTTTTTTTTAATAAAAGGTATGTATGTATGCATTATAGACAAATATCAAGATGTTAACTGTGATAACTTGGTTATCTCAAAGTTAATAGTATTTTTTAAATGTGTCCCTAGGCTAAAGGAAACTCTAAAGAAATTGGCGCTAGAATACTTGGAGCAATGGCAGCATCAATAGAAAAACATCAATAGAAAAAGAGTATGACTTTCCAAGGTTACTCCATAGGTACAGACACCATTCATTTTAGGGCACGGATTATGATAAATTGATTAAAAGTTCAGTTTCATTACTTTAGCCCAGTGATTCTCAAAACGTTATCACTTTCCTTCCTGAGGAGCCTTTCTAGCCATTTTTTTCTAAACCTCTTACTTTTAATACCACAGATAGAGTTTATGTGCTGTATATTTGTACTTTTTACATAGAAGTCGTAAGTTTTTTTTTTTTCTTAGTTACCCCAAACCAATTTTCACCCATCTGGAAAG
|
Task1_train_22470
|
This sequence variant lies in PDZD9, UQCRC2 (PDZ domain containing 9| ubiquinol-cytochrome c reductase core protein 2) on Chromosome 16. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 5
|
GTTTGATGCCTTTCATTCATATGGCACTTTTATTTAGAAATTTTAACTTACATCATCCAACTTGAACAGGCAGCCGTTTTCATAAGACTGGACTCTAATGAGTTTTGAAATTTTTCAGAAATCAAATTCACCCTCATGAAGATGTGTCATTAAGTTAGCTAAAACTTAGCAAAAGTTTATCTACAAGGATGGCTATTGTAATACTAGTTTATAATTGTGAAAAATTAGAAACAAGTTAATATCCAGCATTAGGGAACTAGTTAAATAACTTATAGAATGGAACAGTATTCAACCATTCAAAAATATTAGTTGATACATAAAACTCCACAGCATGTTGTCACATAAAGCAATTTATGGATTAGGACATACCAAAAGGTCCCTTTTTTTTAATAAAAGGTATGTATGTATGCATTATAGACAAATATCAAGATGTTAACTGTGATAACTTGGTTATCTCAAAGTTAATAGTATTTTTTAAATGTGTCCCTAGGCTAAAGGAAACTCTAAAGAAATTGGCGCTAGAATACTTGGAGCAATGGCAGCATCAATAGAAAAACATCAATAGAAAAAGAGTATGACTTTCCAAGGTTACTCCATAGGTACAGACACCATTCATTTTAGGGCACGGATTATGATAAATTGATTAAAAGTTCAGTTTCATTACTTTAGCCCAGTGATTCTCAAAACGTTATCACTTTCCTTCCTGAGGAGCCTTTCTAGCCATTTTTTTCTAAACCTCTTACTTTTAATACCACAGATAGAGTTTATGTGCTGTATATTTGTACTTTTTACATAGAAGTCGTAAGTTTTTTTTTTTTCTTAGTTACCCCAAACCAATTTTCACCCATCTGGAAAGGATAGCATTTCTGTTGAAAGTACATGTTTTAGCCCTACTTTTGTATATTAAGCCTAAGGTGGTAATATAAACCAGTGATAACCAAGTCTCACCAATCTTCAGATCGCCTGAGTGGTTGATTGGATGGATGGGTAGTTGGTCGGTTTTAAATAAGGATTCTAGGATTCCACATTTAATATTTTATATCAGTCTGTAGGGTAAGTCCCAAGAATGGGGGACAGTGACCGTTTTTGTTTTTCAAGCTGAGTAATTGTGATCTTACAGTTTCGACACCCTGGTATAGACAATGACTTCATGGTCAGAAAAGCTTTATAGAGATTGGCTTCAAAGATGGACGAGAAGGGTGTTGTGGTAAAACTCTGTTAGCCCTGTTATAGAATGTTAATAGTGCTTCATTACTACTTATATAAACACAAAAGAAACCTGACATACTACGTAAGCTACATTATAATAAAAATCATAGTCCACGTTTTCAAGTTTAGGCCAGTGTATGCTCTAATTTCTTTTTATTCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCGCCCAGGCCAGAGTGCAATGACACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAACAATTCTCGTGCCTCAGCCACCCATGTAGCTGGGATTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGTCAGGATTTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCGTGGCCTCAAATGATCCGCCAGCCTTGGCCTCCCAGAGTGCTGGGATTACAGACATGAGCTACTGCACCCAGCCTCTTTTTATTCCTTTTATAAATAACAGCTTTGTTGAGATGTAATTCACCATACTATACAACCTATTTAAAGTGTACACAATTCAGTGGTTTTCATTATATTCACAGAGTTGTGCAACCATGACCACAATTAGGTTCTAGTTCTTTTAAGCAATAGTTTTTATAATAAAATCCCAGGGTAATTCACCTCAGTTAGTACCTTGTAGTTCATTACAGCAACTTATAAGGCCTTATAAGTATTTATTTTCTTCCAAACTGTACTTTTATGTTTTTACAGCTTTTTATATTTATGCTAATATAACCTAATAAGTGTTTTTAACTTCCTCAGTTACATTACTTCGTTCAGAACCATTTCACAAGTGCAAGAATGGCTTTGATTGGACTTGGTAAGTTTAGAGTATTGCCTGCCTGTCAGTTTGCTTCCTTAAGAGCAGTTCCTTAAACTGTAATTACGTGAACATAGGATTGAACAAAATTTGAAAACTTCGGCCTTCTATTTATGTCAGACAGGCAATATATCATAGGATTTTAATTGCTAGTCATTTGTTTTGGAAAGCAGAATCCAACATTTAAATTTGTAAACCACTGGCTTTAAATTCTTTACAGTATTTGTAAAACCTGTGACAAAGGTGAATTTCTCAAAGCAAAGAGCTTTTACAAACTTTTTTAAAAGGAAGTACAGCTTACTAGAAAAACAGGCAAAGGGCATGAACAGACAGTTCATGGGAGAAATATGTTTGTATATGTGTAGCCAACTATCTTTGTTTTAAATGATCAGCCTCACTAATAATTAAGAAAATTTTAATCTGTGATGTTGGCAAAATTAAAAGATGGACTCTGCCCAGAATTAACCAGGGTATGGAGAAATAGGCACTCTCACAAATTGTTAGTAGGAATATAAACTAGTACAACATTTTGGGAGATCTTTTTGAACATATCTGTTAAAATTCTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTCGGGCATGGTGACACATGCCTGTAATCCCAGCTATCGGGGGGCTGAGGAGGAGAATCGCTTGAACCCAGGAGGCAGTGATTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCAAGGGCGACAGAGTGAGACTCTGTCTCAAAAAAATACAATTCCAAATGTTTACACTCATAGACCCAGTGACTTTTAAGAATTTGTCTTACAGAAACATTAGGTCAAGTTTACAAAGTAGTTGCATGAGAATATCATTTGTAATATTTTTTGTTTTGTTTTGCAAATTACAGCTTAAGATATAATTTACATGCTATAAAATTCACCCTTTTGAAGTGAATAGTTCTGTGGTTTTTAACAGATTCAACTATTACCACTACCTAATTTCAGGGTGTGTTCATCATCCCCCCAAAAGCCCCATACCCATTAGCAGTCACTCCCCATTCTCATCTTCCCCCTGCCTGTGGCATCCACTAATCTACTTTGTTTTTGTTTTTTTTTTTAAAGAGATGGAGGTCTCATTCTGTTGCCCAAGCTGGAGCACAGTGGCACAATCATAGCTCACTGCCTTGAACTCCTAGGCTCAGGTGATCCTCCCACCTCAGCCTCCTAAGTAGCAATAATCTACTTTGTCTCTATAGATTTGACTATTCTGGACATTTCCTATAAATGGAGTCATACGATATGTGGCCTTTTGTAACTGGCTTTTCTTACTTAGCATAATGTTTTCAAGGTCCGTCCATATTGTAGCATGTGTCAATTCAATGTCTTATTCCCTTTTATGGCTCAAGAATACTCCATTACCACATTTTGTTTATTCATTGATTGGCATTTGGGTTGTTTCTACCTTTTGGCTGTCGTAAATATAAACATTCACGTGTACATTTTTCTTAGGAAACCTGTTTTTAGTTCTTTTGGTTATGTCTAAGAACAGAATTGCCAGGACATATGGTAACTCTGTTTAACCATTTGGGGAACTGCCAGACTGTTTTCCAAAGTAGCTGCACCATTTTACATTCCCACCAGCAATGCACAAAGGTTTTGATTTCTCCACATCCTCACCAACACTTATCGTCTGTCTTTCTGATTATGAACAACCTACTGGGTGGGAAGTGGTCATTGTAGTTTTGATTTGTATTTCCCTAATGACAAATGACATTGAACATATTTTCATGTGCTTTTTGTCCATTTGTATAACTTTTTTTGTTTGTTTGTTTTTTTGAGACAGAGGCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCCGGCCTCAGCCTCCCGAGTAGCTGGGATTACA
|
GTTTGATGCCTTTCATTCATATGGCACTTTTATTTAGAAATTTTAACTTACATCATCCAACTTGAACAGGCAGCCGTTTTCATAAGACTGGACTCTAATGAGTTTTGAAATTTTTCAGAAATCAAATTCACCCTCATGAAGATGTGTCATTAAGTTAGCTAAAACTTAGCAAAAGTTTATCTACAAGGATGGCTATTGTAATACTAGTTTATAATTGTGAAAAATTAGAAACAAGTTAATATCCAGCATTAGGGAACTAGTTAAATAACTTATAGAATGGAACAGTATTCAACCATTCAAAAATATTAGTTGATACATAAAACTCCACAGCATGTTGTCACATAAAGCAATTTATGGATTAGGACATACCAAAAGGTCCCTTTTTTTTAATAAAAGGTATGTATGTATGCATTATAGACAAATATCAAGATGTTAACTGTGATAACTTGGTTATCTCAAAGTTAATAGTATTTTTTAAATGTGTCCCTAGGCTAAAGGAAACTCTAAAGAAATTGGCGCTAGAATACTTGGAGCAATGGCAGCATCAATAGAAAAACATCAATAGAAAAAGAGTATGACTTTCCAAGGTTACTCCATAGGTACAGACACCATTCATTTTAGGGCACGGATTATGATAAATTGATTAAAAGTTCAGTTTCATTACTTTAGCCCAGTGATTCTCAAAACGTTATCACTTTCCTTCCTGAGGAGCCTTTCTAGCCATTTTTTTCTAAACCTCTTACTTTTAATACCACAGATAGAGTTTATGTGCTGTATATTTGTACTTTTTACATAGAAGTCGTAAGTTTTTTTTTTTTCTTAGTTACCCCAAACCAATTTTCACCCATCTGGAAAGGATAGCATTTCTGTTGAAAGTACATGTTTTAGCCCTACTTTTGTATATTAAGCCTAAGGTGGTAATATAAACCAGTGATAACCAAGTCTCACCAATCTTCAGATCGCCTGAGTGGTTGATTGGATGGATGGGTAGTTGGTCGGTTTTAAATAAGGATTCTAGGATTCCACATTTAATATTTTATATCAGTCTGTAGGGTAAGTCCCAAGAATGGGGGACAGTGACCGTTTTTGTTTTTCAAGCTGAGTAATTGTGATCTTACAGTTTCGACACCCTGGTATAGACAATGACTTCATGGTCAGAAAAGCTTTATAGAGATTGGCTTCAAAGATGGACGAGAAGGGTGTTGTGGTAAAACTCTGTTAGCCCTGTTATAGAATGTTAATAGTGCTTCATTACTACTTATATAAACACAAAAGAAACCTGACATACTACGTAAGCTACATTATAATAAAAATCATAGTCCACGTTTTCAAGTTTAGGCCAGTGTATGCTCTAATTTCTTTTTATTCCTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTGTGTCGCCCAGGCCAGAGTGCAATGACACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGATTCAAACAATTCTCGTGCCTCAGCCACCCATGTAGCTGGGATTACAGGCGTGCACCACCATGCCTGGCTAATTTTTGCATTTTTAGTAGAGTCAGGATTTCGCTGTGTTGCCCAGGCTGGTCTCAAACTCGTGGCCTCAAATGATCCGCCAGCCTTGGCCTCCCAGAGTGCTGGGATTACAGACATGAGCTACTGCACCCAGCCTCTTTTTATTCCTTTTATAAATAACAGCTTTGTTGAGATGTAATTCACCATACTATACAACCTATTTAAAGTGTACACAATTCAGTGGTTTTCATTATATTCACAGAGTTGTGCAACCATGACCACAATTAGGTTCTAGTTCTTTTAAGCAATAGTTTTTATAATAAAATCCCAGGGTAATTCACCTCAGTTAGTACCTTGTAGTTCATTACAGCAACTTATAAGGCCTTATAAGTATTTATTTTCTTCCAAACTGTACTTTTATGTTTTTACAGCTTTTTATATTTATGCTAATATAACCTAATAAGTGTTTTTAACTTCCTCAGTTACATTACTTCGTTCAGAACCATTTCACAAGTGCAAGAATGGCTTTGATTGCACTTGGTAAGTTTAGAGTATTGCCTGCCTGTCAGTTTGCTTCCTTAAGAGCAGTTCCTTAAACTGTAATTACGTGAACATAGGATTGAACAAAATTTGAAAACTTCGGCCTTCTATTTATGTCAGACAGGCAATATATCATAGGATTTTAATTGCTAGTCATTTGTTTTGGAAAGCAGAATCCAACATTTAAATTTGTAAACCACTGGCTTTAAATTCTTTACAGTATTTGTAAAACCTGTGACAAAGGTGAATTTCTCAAAGCAAAGAGCTTTTACAAACTTTTTTAAAAGGAAGTACAGCTTACTAGAAAAACAGGCAAAGGGCATGAACAGACAGTTCATGGGAGAAATATGTTTGTATATGTGTAGCCAACTATCTTTGTTTTAAATGATCAGCCTCACTAATAATTAAGAAAATTTTAATCTGTGATGTTGGCAAAATTAAAAGATGGACTCTGCCCAGAATTAACCAGGGTATGGAGAAATAGGCACTCTCACAAATTGTTAGTAGGAATATAAACTAGTACAACATTTTGGGAGATCTTTTTGAACATATCTGTTAAAATTCTAGGCTGGGCATGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTAGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGTCGGGCATGGTGACACATGCCTGTAATCCCAGCTATCGGGGGGCTGAGGAGGAGAATCGCTTGAACCCAGGAGGCAGTGATTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCAAGGGCGACAGAGTGAGACTCTGTCTCAAAAAAATACAATTCCAAATGTTTACACTCATAGACCCAGTGACTTTTAAGAATTTGTCTTACAGAAACATTAGGTCAAGTTTACAAAGTAGTTGCATGAGAATATCATTTGTAATATTTTTTGTTTTGTTTTGCAAATTACAGCTTAAGATATAATTTACATGCTATAAAATTCACCCTTTTGAAGTGAATAGTTCTGTGGTTTTTAACAGATTCAACTATTACCACTACCTAATTTCAGGGTGTGTTCATCATCCCCCCAAAAGCCCCATACCCATTAGCAGTCACTCCCCATTCTCATCTTCCCCCTGCCTGTGGCATCCACTAATCTACTTTGTTTTTGTTTTTTTTTTTAAAGAGATGGAGGTCTCATTCTGTTGCCCAAGCTGGAGCACAGTGGCACAATCATAGCTCACTGCCTTGAACTCCTAGGCTCAGGTGATCCTCCCACCTCAGCCTCCTAAGTAGCAATAATCTACTTTGTCTCTATAGATTTGACTATTCTGGACATTTCCTATAAATGGAGTCATACGATATGTGGCCTTTTGTAACTGGCTTTTCTTACTTAGCATAATGTTTTCAAGGTCCGTCCATATTGTAGCATGTGTCAATTCAATGTCTTATTCCCTTTTATGGCTCAAGAATACTCCATTACCACATTTTGTTTATTCATTGATTGGCATTTGGGTTGTTTCTACCTTTTGGCTGTCGTAAATATAAACATTCACGTGTACATTTTTCTTAGGAAACCTGTTTTTAGTTCTTTTGGTTATGTCTAAGAACAGAATTGCCAGGACATATGGTAACTCTGTTTAACCATTTGGGGAACTGCCAGACTGTTTTCCAAAGTAGCTGCACCATTTTACATTCCCACCAGCAATGCACAAAGGTTTTGATTTCTCCACATCCTCACCAACACTTATCGTCTGTCTTTCTGATTATGAACAACCTACTGGGTGGGAAGTGGTCATTGTAGTTTTGATTTGTATTTCCCTAATGACAAATGACATTGAACATATTTTCATGTGCTTTTTGTCCATTTGTATAACTTTTTTTGTTTGTTTGTTTTTTTGAGACAGAGGCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACTTCCCAGGTTCAAGCAATTCTCCGGCCTCAGCCTCCCGAGTAGCTGGGATTACA
|
Task1_train_22471
|
This variant lies on Chromosome 16 and affects the gene SCNN1B (sodium channel epithelial 1 subunit beta). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Liddle syndrome 1
|
CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTATTGTTTTTTTGATACAGAGTCTCACTCTGTTGCCCAGGCAGGAGTACAGTGGTGCAATCACAGCTCACTACAGCCTCAACCTCCCCAGGCTCAGGTGATCAATCCACATCAGCCTCCCAAGTAGCTGGGACTACAGACACTCACCACTACTCCTGGCTTTTTATTTTATTTTATTTTTTATTTTTTGTAGAGATAGGGTCTCAATTCGTTGGCCAGGCTGATCTCAAACTCCTGGGCTCAGTTGGGTGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAAGCCAAGGTGTGGGGATCACCCGAGGTCAAGAGTTCAAGAGCAGCCTGGCCAACATGATGAAACCCCATCTGCACTAAAAATACACAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTGAGATTCTCCTCAGCCTGGAGTGAGATCACACCACTGTACTCCAGCCTGAGCAACATAGTGAGACTCTGTCTCAAAAACAAACAAACAAACAAAACTCCTGGGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCGCTCCCAACCTCCTCTTATTTTTAATAAATAAAAAAAGAACAACATAGAAACATCAAGAGATATTTTTTAAAGCTGCTTACTTTGGAGACTTGAGAACATGCACTTCGACTGAACAGAGTTTGATGAACTCCAGCACACCAGTCATCAGAAGAGGCAAGGAGGAATTCTCCCCTGAGCCTTCTGGTGGGCCCAGGAGTTCCTCGGCTTGTGTCTGAAGGCCCCTGCCTCAGTCTTCAATGAGCTTCTCCTCTGTATCTGTCTCTCTTCTGTGTCTTCTAAGGATGCTTGTCATTTGATTTCGGGCCCACCTGGATAATCCAAGATGACCTCATCTCGAGATCCTTAGCACATCTGCAAGGACCCTTTCTCCAAATAAGGTCACACTCATAGGTTCCGGGGCTGAGGACATGGATGTGCCTCTTTTGAGGTGTATACGAGACAGATGAAAACATCTGAGAAAGTTCTTTTTCATTTTTGTTGTTGTTGTTTGTTGTTGTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCAAGCAGCCTCGAACTCCTGGGCTCAAGCGTTCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTGCAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGAGGGTCTCACCATGTTGCCCAACCTGGTCTCAAACTCCTGGCCTCAAGCGGTCCTCCCGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCAGAAAGTTCTTTTTCATAACTCATGGCCAAACCAGAGAGCCTGAGCCCCAACTCCAGAGAAACTCTCTTCCCCTGCTTTCCCAAGGGAGCCTGGGAATCTCCCCTCTGGTTTGGACCAGAGGATGGACAGAATGACCTGTTGCTCGCCTCTCCCTTTCGGAGCCCCTCCAAGGAGGAAATGAAAGGTGGACGGCAGACAGTCGGGGGAGGCATTGCCTGTGGTGGAACCTGCCCTGCAGCTGATGCTGTTTCTTTTAGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACAGAGAAGGCACTTCCTTCGGCCAACCCTGGAACTGAATTCGGTGAGTTTTGGTTTATCGTGGGGCCAGAGCCATGAGGCTTTAACCACCCCCACAATGTGGGACTGAAAGACCATCAGCTGTTGCAGGGTGGGACTGAGGGGGGACCAAGGCATCAAGAGGAGTGGCTGCTACCGAGGCTCTACTGTGTGCCAGGGGAGGCCAGGCCAGGCGCTTCCTCAGCCATTCCCGCCCACAATGTTCAGAATCCGTGGGGTAGCAACTGGTGTTCCCATTTTACTGATGAGCAAAGTGAGGACTTGGAAGCAGCACAGCTTCGTGGTCAAGAGCTCAAGCTTCAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGAGGATTGTTCAAGCCCAAGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAACCCCATCTCTTAAAAAAAAAATACAAAAATTAGCGAGGCATGATGGCACGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATCGCTTGAGCTGGGAAGGTCAAGGCAGCAGTGAGCCATGATCACACCACTGCAGCTCCACCATTTACTTGGGTGGTGTTCCTGAGCTCCAGAGCAACCTTCTCAAAGCCTTAGTTTCCCCAATCATAGATTAGTATATAGTAGCAGAGCAGAGCATTTAGTATAGTAAATCGTATCTACCGTGTGAGCCATGATGATGAGTAAATAGTATAAGCCTTGTGAGTCATTACGATGTAATGTGGTAAATCGTTTCACCTGCCTAGGAAGTAGGGAATGCTCCATATATGCTGAGTATTCTGAGCAGTTTTTAAACAACTTGTCCAGGATCATGCAGTTAATACATGGACCAAAAGACATTGCATGTTCTTACCTGTAAGTGGGAGCTAAATGATGTGCACACGTGGATATAGAGTGTGGAAGGAGAGACATCAGAGACTTAGAGGGTGGGAGGGTAGGAGGCAGGTGAGGGACAAGAAATTAATGAGTACAGTATATATGATTCCAGTGAAGGTTACACTAAAAGCCTAGACTTCACCACTGTATAATAATTCCATGTAACAAAACTGCGCTTGAACCCCTTACATTTATACAAATTAGAAAAAGAAAAGAAATACATAACAGTCTCTTAGTCTCTCTGCCTCTCTGGTGTACAGTTTGTTTGTTTGTTTTCTTGAGACAGGGTCTCACTCTGTCACCCAAACTGGAGTGCAGTGGCACGGTCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGGAGCTAGGATTGCAGGTGGCTAATTTTTTGTAGAGATAAGGTTTCATCCTGTTGCCCAGGTTGGTCTTGACCTCCTGGGCTCAAGCAATCTGCCCTCCTTGGCCTCTCAAAGTACTGGGATTACAGATGTGATCCACTGCGCCCAGCTGTACAGTTCTTAAAGAAAGACAGAGACACACAGAGAGAAGCTGAAGGAGTCCATGGAAGTGAGGAAGTGGGGCATGGTGGATGACGGATCCCCCTCCCTCGGGGCTCATGTGTTGCACTGACCCCTAGAGAGGGGCTGGTGGACTCAGGCTGGCTGTGGTTTTGCGGCTTGTGAGCCGGGCACAGGTGGGAGTGGATCCCTCCTCCCATCTCTAGGTTCTGACCTCTGCAACCACCAAGAGGCAGGCTCTCATTCAGCGACCATCGGGGCCGCTGGCCAAGAGGGCAGGTGAGCTGAGTGCCTTTCACTTAGCCCCCATGCTGCTGAGAGCACTGCCACAGAGGTGCCAGTCAACTTACTCCCAGAGGCAGATGGTTATAGTCAGGGAGCCAGCTGCTGTATCAGAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTG
|
CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTATTGTTTTTTTGATACAGAGTCTCACTCTGTTGCCCAGGCAGGAGTACAGTGGTGCAATCACAGCTCACTACAGCCTCAACCTCCCCAGGCTCAGGTGATCAATCCACATCAGCCTCCCAAGTAGCTGGGACTACAGACACTCACCACTACTCCTGGCTTTTTATTTTATTTTATTTTTTATTTTTTGTAGAGATAGGGTCTCAATTCGTTGGCCAGGCTGATCTCAAACTCCTGGGCTCAGTTGGGTGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAAGCCAAGGTGTGGGGATCACCCGAGGTCAAGAGTTCAAGAGCAGCCTGGCCAACATGATGAAACCCCATCTGCACTAAAAATACACAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTGAGATTCTCCTCAGCCTGGAGTGAGATCACACCACTGTACTCCAGCCTGAGCAACATAGTGAGACTCTGTCTCAAAAACAAACAAACAAACAAAACTCCTGGGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCGCTCCCAACCTCCTCTTATTTTTAATAAATAAAAAAAGAACAACATAGAAACATCAAGAGATATTTTTTAAAGCTGCTTACTTTGGAGACTTGAGAACATGCACTTCGACTGAACAGAGTTTGATGAACTCCAGCACACCAGTCATCAGAAGAGGCAAGGAGGAATTCTCCCCTGAGCCTTCTGGTGGGCCCAGGAGTTCCTCGGCTTGTGTCTGAAGGCCCCTGCCTCAGTCTTCAATGAGCTTCTCCTCTGTATCTGTCTCTCTTCTGTGTCTTCTAAGGATGCTTGTCATTTGATTTCGGGCCCACCTGGATAATCCAAGATGACCTCATCTCGAGATCCTTAGCACATCTGCAAGGACCCTTTCTCCAAATAAGGTCACACTCATAGGTTCCGGGGCTGAGGACATGGATGTGCCTCTTTTGAGGTGTATACGAGACAGATGAAAACATCTGAGAAAGTTCTTTTTCATTTTTGTTGTTGTTGTTTGTTGTTGTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCAAGCAGCCTCGAACTCCTGGGCTCAAGCGTTCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTGCAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGAGGGTCTCACCATGTTGCCCAACCTGGTCTCAAACTCCTGGCCTCAAGCGGTCCTCCCGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCAGAAAGTTCTTTTTCATAACTCATGGCCAAACCAGAGAGCCTGAGCCCCAACTCCAGAGAAACTCTCTTCCCCTGCTTTCCCAAGGGAGCCTGGGAATCTCCCCTCTGGTTTGGACCAGAGGATGGACAGAATGACCTGTTGCTCGCCTCTCCCTTTCGGAGCCCCTCCAAGGAGGAAATGAAAGGTGGACGGCAGACAGTCGGGGGAGGCATTGCCTGTGGTGGAACCTGCCCTGCAGCTGATGCTGTTTCTTTTAGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACAGAGAAGGCACTTCCTTCGGCCAGCCCTGGAACTGAATTCGGTGAGTTTTGGTTTATCGTGGGGCCAGAGCCATGAGGCTTTAACCACCCCCACAATGTGGGACTGAAAGACCATCAGCTGTTGCAGGGTGGGACTGAGGGGGGACCAAGGCATCAAGAGGAGTGGCTGCTACCGAGGCTCTACTGTGTGCCAGGGGAGGCCAGGCCAGGCGCTTCCTCAGCCATTCCCGCCCACAATGTTCAGAATCCGTGGGGTAGCAACTGGTGTTCCCATTTTACTGATGAGCAAAGTGAGGACTTGGAAGCAGCACAGCTTCGTGGTCAAGAGCTCAAGCTTCAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGAGGATTGTTCAAGCCCAAGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAACCCCATCTCTTAAAAAAAAAATACAAAAATTAGCGAGGCATGATGGCACGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATCGCTTGAGCTGGGAAGGTCAAGGCAGCAGTGAGCCATGATCACACCACTGCAGCTCCACCATTTACTTGGGTGGTGTTCCTGAGCTCCAGAGCAACCTTCTCAAAGCCTTAGTTTCCCCAATCATAGATTAGTATATAGTAGCAGAGCAGAGCATTTAGTATAGTAAATCGTATCTACCGTGTGAGCCATGATGATGAGTAAATAGTATAAGCCTTGTGAGTCATTACGATGTAATGTGGTAAATCGTTTCACCTGCCTAGGAAGTAGGGAATGCTCCATATATGCTGAGTATTCTGAGCAGTTTTTAAACAACTTGTCCAGGATCATGCAGTTAATACATGGACCAAAAGACATTGCATGTTCTTACCTGTAAGTGGGAGCTAAATGATGTGCACACGTGGATATAGAGTGTGGAAGGAGAGACATCAGAGACTTAGAGGGTGGGAGGGTAGGAGGCAGGTGAGGGACAAGAAATTAATGAGTACAGTATATATGATTCCAGTGAAGGTTACACTAAAAGCCTAGACTTCACCACTGTATAATAATTCCATGTAACAAAACTGCGCTTGAACCCCTTACATTTATACAAATTAGAAAAAGAAAAGAAATACATAACAGTCTCTTAGTCTCTCTGCCTCTCTGGTGTACAGTTTGTTTGTTTGTTTTCTTGAGACAGGGTCTCACTCTGTCACCCAAACTGGAGTGCAGTGGCACGGTCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGGAGCTAGGATTGCAGGTGGCTAATTTTTTGTAGAGATAAGGTTTCATCCTGTTGCCCAGGTTGGTCTTGACCTCCTGGGCTCAAGCAATCTGCCCTCCTTGGCCTCTCAAAGTACTGGGATTACAGATGTGATCCACTGCGCCCAGCTGTACAGTTCTTAAAGAAAGACAGAGACACACAGAGAGAAGCTGAAGGAGTCCATGGAAGTGAGGAAGTGGGGCATGGTGGATGACGGATCCCCCTCCCTCGGGGCTCATGTGTTGCACTGACCCCTAGAGAGGGGCTGGTGGACTCAGGCTGGCTGTGGTTTTGCGGCTTGTGAGCCGGGCACAGGTGGGAGTGGATCCCTCCTCCCATCTCTAGGTTCTGACCTCTGCAACCACCAAGAGGCAGGCTCTCATTCAGCGACCATCGGGGCCGCTGGCCAAGAGGGCAGGTGAGCTGAGTGCCTTTCACTTAGCCCCCATGCTGCTGAGAGCACTGCCACAGAGGTGCCAGTCAACTTACTCCCAGAGGCAGATGGTTATAGTCAGGGAGCCAGCTGCTGTATCAGAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTG
|
Task1_train_22472
|
Mutation context: Chromosome 16, Gene SCNN1B (sodium channel epithelial 1 subunit beta). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Bronchiectasis with or without elevated sweat chloride 1
|
CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTATTGTTTTTTTGATACAGAGTCTCACTCTGTTGCCCAGGCAGGAGTACAGTGGTGCAATCACAGCTCACTACAGCCTCAACCTCCCCAGGCTCAGGTGATCAATCCACATCAGCCTCCCAAGTAGCTGGGACTACAGACACTCACCACTACTCCTGGCTTTTTATTTTATTTTATTTTTTATTTTTTGTAGAGATAGGGTCTCAATTCGTTGGCCAGGCTGATCTCAAACTCCTGGGCTCAGTTGGGTGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAAGCCAAGGTGTGGGGATCACCCGAGGTCAAGAGTTCAAGAGCAGCCTGGCCAACATGATGAAACCCCATCTGCACTAAAAATACACAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTGAGATTCTCCTCAGCCTGGAGTGAGATCACACCACTGTACTCCAGCCTGAGCAACATAGTGAGACTCTGTCTCAAAAACAAACAAACAAACAAAACTCCTGGGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCGCTCCCAACCTCCTCTTATTTTTAATAAATAAAAAAAGAACAACATAGAAACATCAAGAGATATTTTTTAAAGCTGCTTACTTTGGAGACTTGAGAACATGCACTTCGACTGAACAGAGTTTGATGAACTCCAGCACACCAGTCATCAGAAGAGGCAAGGAGGAATTCTCCCCTGAGCCTTCTGGTGGGCCCAGGAGTTCCTCGGCTTGTGTCTGAAGGCCCCTGCCTCAGTCTTCAATGAGCTTCTCCTCTGTATCTGTCTCTCTTCTGTGTCTTCTAAGGATGCTTGTCATTTGATTTCGGGCCCACCTGGATAATCCAAGATGACCTCATCTCGAGATCCTTAGCACATCTGCAAGGACCCTTTCTCCAAATAAGGTCACACTCATAGGTTCCGGGGCTGAGGACATGGATGTGCCTCTTTTGAGGTGTATACGAGACAGATGAAAACATCTGAGAAAGTTCTTTTTCATTTTTGTTGTTGTTGTTTGTTGTTGTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCAAGCAGCCTCGAACTCCTGGGCTCAAGCGTTCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTGCAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGAGGGTCTCACCATGTTGCCCAACCTGGTCTCAAACTCCTGGCCTCAAGCGGTCCTCCCGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCAGAAAGTTCTTTTTCATAACTCATGGCCAAACCAGAGAGCCTGAGCCCCAACTCCAGAGAAACTCTCTTCCCCTGCTTTCCCAAGGGAGCCTGGGAATCTCCCCTCTGGTTTGGACCAGAGGATGGACAGAATGACCTGTTGCTCGCCTCTCCCTTTCGGAGCCCCTCCAAGGAGGAAATGAAAGGTGGACGGCAGACAGTCGGGGGAGGCATTGCCTGTGGTGGAACCTGCCCTGCAGCTGATGCTGTTTCTTTTAGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACAGAGAAGGCACTTCCTTCGGCCAACCCTGGAACTGAATTCGGTGAGTTTTGGTTTATCGTGGGGCCAGAGCCATGAGGCTTTAACCACCCCCACAATGTGGGACTGAAAGACCATCAGCTGTTGCAGGGTGGGACTGAGGGGGGACCAAGGCATCAAGAGGAGTGGCTGCTACCGAGGCTCTACTGTGTGCCAGGGGAGGCCAGGCCAGGCGCTTCCTCAGCCATTCCCGCCCACAATGTTCAGAATCCGTGGGGTAGCAACTGGTGTTCCCATTTTACTGATGAGCAAAGTGAGGACTTGGAAGCAGCACAGCTTCGTGGTCAAGAGCTCAAGCTTCAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGAGGATTGTTCAAGCCCAAGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAACCCCATCTCTTAAAAAAAAAATACAAAAATTAGCGAGGCATGATGGCACGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATCGCTTGAGCTGGGAAGGTCAAGGCAGCAGTGAGCCATGATCACACCACTGCAGCTCCACCATTTACTTGGGTGGTGTTCCTGAGCTCCAGAGCAACCTTCTCAAAGCCTTAGTTTCCCCAATCATAGATTAGTATATAGTAGCAGAGCAGAGCATTTAGTATAGTAAATCGTATCTACCGTGTGAGCCATGATGATGAGTAAATAGTATAAGCCTTGTGAGTCATTACGATGTAATGTGGTAAATCGTTTCACCTGCCTAGGAAGTAGGGAATGCTCCATATATGCTGAGTATTCTGAGCAGTTTTTAAACAACTTGTCCAGGATCATGCAGTTAATACATGGACCAAAAGACATTGCATGTTCTTACCTGTAAGTGGGAGCTAAATGATGTGCACACGTGGATATAGAGTGTGGAAGGAGAGACATCAGAGACTTAGAGGGTGGGAGGGTAGGAGGCAGGTGAGGGACAAGAAATTAATGAGTACAGTATATATGATTCCAGTGAAGGTTACACTAAAAGCCTAGACTTCACCACTGTATAATAATTCCATGTAACAAAACTGCGCTTGAACCCCTTACATTTATACAAATTAGAAAAAGAAAAGAAATACATAACAGTCTCTTAGTCTCTCTGCCTCTCTGGTGTACAGTTTGTTTGTTTGTTTTCTTGAGACAGGGTCTCACTCTGTCACCCAAACTGGAGTGCAGTGGCACGGTCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGGAGCTAGGATTGCAGGTGGCTAATTTTTTGTAGAGATAAGGTTTCATCCTGTTGCCCAGGTTGGTCTTGACCTCCTGGGCTCAAGCAATCTGCCCTCCTTGGCCTCTCAAAGTACTGGGATTACAGATGTGATCCACTGCGCCCAGCTGTACAGTTCTTAAAGAAAGACAGAGACACACAGAGAGAAGCTGAAGGAGTCCATGGAAGTGAGGAAGTGGGGCATGGTGGATGACGGATCCCCCTCCCTCGGGGCTCATGTGTTGCACTGACCCCTAGAGAGGGGCTGGTGGACTCAGGCTGGCTGTGGTTTTGCGGCTTGTGAGCCGGGCACAGGTGGGAGTGGATCCCTCCTCCCATCTCTAGGTTCTGACCTCTGCAACCACCAAGAGGCAGGCTCTCATTCAGCGACCATCGGGGCCGCTGGCCAAGAGGGCAGGTGAGCTGAGTGCCTTTCACTTAGCCCCCATGCTGCTGAGAGCACTGCCACAGAGGTGCCAGTCAACTTACTCCCAGAGGCAGATGGTTATAGTCAGGGAGCCAGCTGCTGTATCAGAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTG
|
CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTATTGTTTTTTTGATACAGAGTCTCACTCTGTTGCCCAGGCAGGAGTACAGTGGTGCAATCACAGCTCACTACAGCCTCAACCTCCCCAGGCTCAGGTGATCAATCCACATCAGCCTCCCAAGTAGCTGGGACTACAGACACTCACCACTACTCCTGGCTTTTTATTTTATTTTATTTTTTATTTTTTGTAGAGATAGGGTCTCAATTCGTTGGCCAGGCTGATCTCAAACTCCTGGGCTCAGTTGGGTGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAAGCCAAGGTGTGGGGATCACCCGAGGTCAAGAGTTCAAGAGCAGCCTGGCCAACATGATGAAACCCCATCTGCACTAAAAATACACAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTGAGATTCTCCTCAGCCTGGAGTGAGATCACACCACTGTACTCCAGCCTGAGCAACATAGTGAGACTCTGTCTCAAAAACAAACAAACAAACAAAACTCCTGGGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCGCTCCCAACCTCCTCTTATTTTTAATAAATAAAAAAAGAACAACATAGAAACATCAAGAGATATTTTTTAAAGCTGCTTACTTTGGAGACTTGAGAACATGCACTTCGACTGAACAGAGTTTGATGAACTCCAGCACACCAGTCATCAGAAGAGGCAAGGAGGAATTCTCCCCTGAGCCTTCTGGTGGGCCCAGGAGTTCCTCGGCTTGTGTCTGAAGGCCCCTGCCTCAGTCTTCAATGAGCTTCTCCTCTGTATCTGTCTCTCTTCTGTGTCTTCTAAGGATGCTTGTCATTTGATTTCGGGCCCACCTGGATAATCCAAGATGACCTCATCTCGAGATCCTTAGCACATCTGCAAGGACCCTTTCTCCAAATAAGGTCACACTCATAGGTTCCGGGGCTGAGGACATGGATGTGCCTCTTTTGAGGTGTATACGAGACAGATGAAAACATCTGAGAAAGTTCTTTTTCATTTTTGTTGTTGTTGTTTGTTGTTGTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCAAGCAGCCTCGAACTCCTGGGCTCAAGCGTTCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTGCAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGAGGGTCTCACCATGTTGCCCAACCTGGTCTCAAACTCCTGGCCTCAAGCGGTCCTCCCGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCAGAAAGTTCTTTTTCATAACTCATGGCCAAACCAGAGAGCCTGAGCCCCAACTCCAGAGAAACTCTCTTCCCCTGCTTTCCCAAGGGAGCCTGGGAATCTCCCCTCTGGTTTGGACCAGAGGATGGACAGAATGACCTGTTGCTCGCCTCTCCCTTTCGGAGCCCCTCCAAGGAGGAAATGAAAGGTGGACGGCAGACAGTCGGGGGAGGCATTGCCTGTGGTGGAACCTGCCCTGCAGCTGATGCTGTTTCTTTTAGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACAGAGAAGGCACTTCCTTCGGCCAGCCCTGGAACTGAATTCGGTGAGTTTTGGTTTATCGTGGGGCCAGAGCCATGAGGCTTTAACCACCCCCACAATGTGGGACTGAAAGACCATCAGCTGTTGCAGGGTGGGACTGAGGGGGGACCAAGGCATCAAGAGGAGTGGCTGCTACCGAGGCTCTACTGTGTGCCAGGGGAGGCCAGGCCAGGCGCTTCCTCAGCCATTCCCGCCCACAATGTTCAGAATCCGTGGGGTAGCAACTGGTGTTCCCATTTTACTGATGAGCAAAGTGAGGACTTGGAAGCAGCACAGCTTCGTGGTCAAGAGCTCAAGCTTCAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGAGGATTGTTCAAGCCCAAGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAACCCCATCTCTTAAAAAAAAAATACAAAAATTAGCGAGGCATGATGGCACGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATCGCTTGAGCTGGGAAGGTCAAGGCAGCAGTGAGCCATGATCACACCACTGCAGCTCCACCATTTACTTGGGTGGTGTTCCTGAGCTCCAGAGCAACCTTCTCAAAGCCTTAGTTTCCCCAATCATAGATTAGTATATAGTAGCAGAGCAGAGCATTTAGTATAGTAAATCGTATCTACCGTGTGAGCCATGATGATGAGTAAATAGTATAAGCCTTGTGAGTCATTACGATGTAATGTGGTAAATCGTTTCACCTGCCTAGGAAGTAGGGAATGCTCCATATATGCTGAGTATTCTGAGCAGTTTTTAAACAACTTGTCCAGGATCATGCAGTTAATACATGGACCAAAAGACATTGCATGTTCTTACCTGTAAGTGGGAGCTAAATGATGTGCACACGTGGATATAGAGTGTGGAAGGAGAGACATCAGAGACTTAGAGGGTGGGAGGGTAGGAGGCAGGTGAGGGACAAGAAATTAATGAGTACAGTATATATGATTCCAGTGAAGGTTACACTAAAAGCCTAGACTTCACCACTGTATAATAATTCCATGTAACAAAACTGCGCTTGAACCCCTTACATTTATACAAATTAGAAAAAGAAAAGAAATACATAACAGTCTCTTAGTCTCTCTGCCTCTCTGGTGTACAGTTTGTTTGTTTGTTTTCTTGAGACAGGGTCTCACTCTGTCACCCAAACTGGAGTGCAGTGGCACGGTCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGGAGCTAGGATTGCAGGTGGCTAATTTTTTGTAGAGATAAGGTTTCATCCTGTTGCCCAGGTTGGTCTTGACCTCCTGGGCTCAAGCAATCTGCCCTCCTTGGCCTCTCAAAGTACTGGGATTACAGATGTGATCCACTGCGCCCAGCTGTACAGTTCTTAAAGAAAGACAGAGACACACAGAGAGAAGCTGAAGGAGTCCATGGAAGTGAGGAAGTGGGGCATGGTGGATGACGGATCCCCCTCCCTCGGGGCTCATGTGTTGCACTGACCCCTAGAGAGGGGCTGGTGGACTCAGGCTGGCTGTGGTTTTGCGGCTTGTGAGCCGGGCACAGGTGGGAGTGGATCCCTCCTCCCATCTCTAGGTTCTGACCTCTGCAACCACCAAGAGGCAGGCTCTCATTCAGCGACCATCGGGGCCGCTGGCCAAGAGGGCAGGTGAGCTGAGTGCCTTTCACTTAGCCCCCATGCTGCTGAGAGCACTGCCACAGAGGTGCCAGTCAACTTACTCCCAGAGGCAGATGGTTATAGTCAGGGAGCCAGCTGCTGTATCAGAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTG
|
Task1_train_22473
|
Assess the clinical impact of this variant on gene SCNN1B (sodium channel epithelial 1 subunit beta), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive
|
CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTATTGTTTTTTTGATACAGAGTCTCACTCTGTTGCCCAGGCAGGAGTACAGTGGTGCAATCACAGCTCACTACAGCCTCAACCTCCCCAGGCTCAGGTGATCAATCCACATCAGCCTCCCAAGTAGCTGGGACTACAGACACTCACCACTACTCCTGGCTTTTTATTTTATTTTATTTTTTATTTTTTGTAGAGATAGGGTCTCAATTCGTTGGCCAGGCTGATCTCAAACTCCTGGGCTCAGTTGGGTGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAAGCCAAGGTGTGGGGATCACCCGAGGTCAAGAGTTCAAGAGCAGCCTGGCCAACATGATGAAACCCCATCTGCACTAAAAATACACAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTGAGATTCTCCTCAGCCTGGAGTGAGATCACACCACTGTACTCCAGCCTGAGCAACATAGTGAGACTCTGTCTCAAAAACAAACAAACAAACAAAACTCCTGGGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCGCTCCCAACCTCCTCTTATTTTTAATAAATAAAAAAAGAACAACATAGAAACATCAAGAGATATTTTTTAAAGCTGCTTACTTTGGAGACTTGAGAACATGCACTTCGACTGAACAGAGTTTGATGAACTCCAGCACACCAGTCATCAGAAGAGGCAAGGAGGAATTCTCCCCTGAGCCTTCTGGTGGGCCCAGGAGTTCCTCGGCTTGTGTCTGAAGGCCCCTGCCTCAGTCTTCAATGAGCTTCTCCTCTGTATCTGTCTCTCTTCTGTGTCTTCTAAGGATGCTTGTCATTTGATTTCGGGCCCACCTGGATAATCCAAGATGACCTCATCTCGAGATCCTTAGCACATCTGCAAGGACCCTTTCTCCAAATAAGGTCACACTCATAGGTTCCGGGGCTGAGGACATGGATGTGCCTCTTTTGAGGTGTATACGAGACAGATGAAAACATCTGAGAAAGTTCTTTTTCATTTTTGTTGTTGTTGTTTGTTGTTGTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCAAGCAGCCTCGAACTCCTGGGCTCAAGCGTTCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTGCAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGAGGGTCTCACCATGTTGCCCAACCTGGTCTCAAACTCCTGGCCTCAAGCGGTCCTCCCGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCAGAAAGTTCTTTTTCATAACTCATGGCCAAACCAGAGAGCCTGAGCCCCAACTCCAGAGAAACTCTCTTCCCCTGCTTTCCCAAGGGAGCCTGGGAATCTCCCCTCTGGTTTGGACCAGAGGATGGACAGAATGACCTGTTGCTCGCCTCTCCCTTTCGGAGCCCCTCCAAGGAGGAAATGAAAGGTGGACGGCAGACAGTCGGGGGAGGCATTGCCTGTGGTGGAACCTGCCCTGCAGCTGATGCTGTTTCTTTTAGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACAGAGAAGGCACTTCCTTCGGCCAACCCTGGAACTGAATTCGGTGAGTTTTGGTTTATCGTGGGGCCAGAGCCATGAGGCTTTAACCACCCCCACAATGTGGGACTGAAAGACCATCAGCTGTTGCAGGGTGGGACTGAGGGGGGACCAAGGCATCAAGAGGAGTGGCTGCTACCGAGGCTCTACTGTGTGCCAGGGGAGGCCAGGCCAGGCGCTTCCTCAGCCATTCCCGCCCACAATGTTCAGAATCCGTGGGGTAGCAACTGGTGTTCCCATTTTACTGATGAGCAAAGTGAGGACTTGGAAGCAGCACAGCTTCGTGGTCAAGAGCTCAAGCTTCAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGAGGATTGTTCAAGCCCAAGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAACCCCATCTCTTAAAAAAAAAATACAAAAATTAGCGAGGCATGATGGCACGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATCGCTTGAGCTGGGAAGGTCAAGGCAGCAGTGAGCCATGATCACACCACTGCAGCTCCACCATTTACTTGGGTGGTGTTCCTGAGCTCCAGAGCAACCTTCTCAAAGCCTTAGTTTCCCCAATCATAGATTAGTATATAGTAGCAGAGCAGAGCATTTAGTATAGTAAATCGTATCTACCGTGTGAGCCATGATGATGAGTAAATAGTATAAGCCTTGTGAGTCATTACGATGTAATGTGGTAAATCGTTTCACCTGCCTAGGAAGTAGGGAATGCTCCATATATGCTGAGTATTCTGAGCAGTTTTTAAACAACTTGTCCAGGATCATGCAGTTAATACATGGACCAAAAGACATTGCATGTTCTTACCTGTAAGTGGGAGCTAAATGATGTGCACACGTGGATATAGAGTGTGGAAGGAGAGACATCAGAGACTTAGAGGGTGGGAGGGTAGGAGGCAGGTGAGGGACAAGAAATTAATGAGTACAGTATATATGATTCCAGTGAAGGTTACACTAAAAGCCTAGACTTCACCACTGTATAATAATTCCATGTAACAAAACTGCGCTTGAACCCCTTACATTTATACAAATTAGAAAAAGAAAAGAAATACATAACAGTCTCTTAGTCTCTCTGCCTCTCTGGTGTACAGTTTGTTTGTTTGTTTTCTTGAGACAGGGTCTCACTCTGTCACCCAAACTGGAGTGCAGTGGCACGGTCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGGAGCTAGGATTGCAGGTGGCTAATTTTTTGTAGAGATAAGGTTTCATCCTGTTGCCCAGGTTGGTCTTGACCTCCTGGGCTCAAGCAATCTGCCCTCCTTGGCCTCTCAAAGTACTGGGATTACAGATGTGATCCACTGCGCCCAGCTGTACAGTTCTTAAAGAAAGACAGAGACACACAGAGAGAAGCTGAAGGAGTCCATGGAAGTGAGGAAGTGGGGCATGGTGGATGACGGATCCCCCTCCCTCGGGGCTCATGTGTTGCACTGACCCCTAGAGAGGGGCTGGTGGACTCAGGCTGGCTGTGGTTTTGCGGCTTGTGAGCCGGGCACAGGTGGGAGTGGATCCCTCCTCCCATCTCTAGGTTCTGACCTCTGCAACCACCAAGAGGCAGGCTCTCATTCAGCGACCATCGGGGCCGCTGGCCAAGAGGGCAGGTGAGCTGAGTGCCTTTCACTTAGCCCCCATGCTGCTGAGAGCACTGCCACAGAGGTGCCAGTCAACTTACTCCCAGAGGCAGATGGTTATAGTCAGGGAGCCAGCTGCTGTATCAGAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTG
|
CACAGCCTGTCCTGGACCCAAGTCATTCTGCAAGTCAACTAGCTGAGACAAAAGATACAGGAAATGGCTTTCTTATCTGAAAACACGGGAAAATAACACCTGCCCTTGTGGGGTTATTTTGAGAATTAAATGAGATCACGAATACAGAAAGATTCAGCACAGGCCTGGCCCATAAAAGTCACTCAGTGAATGTTTGCTGTGGAGCATAAGGCTTCAAAGACAATACTGCATGGCAGGTGACGTTTTATGTGTGTGCATTATTTGATGTACTTACTCTCATTCCTTCCTGTTTTTATTTTTAATTTTTTACAAATTATTATTGTTTTTTTGATACAGAGTCTCACTCTGTTGCCCAGGCAGGAGTACAGTGGTGCAATCACAGCTCACTACAGCCTCAACCTCCCCAGGCTCAGGTGATCAATCCACATCAGCCTCCCAAGTAGCTGGGACTACAGACACTCACCACTACTCCTGGCTTTTTATTTTATTTTATTTTTTATTTTTTGTAGAGATAGGGTCTCAATTCGTTGGCCAGGCTGATCTCAAACTCCTGGGCTCAGTTGGGTGCAGTGGCTCACGCCTGTAATCGCAGCACTTTGGGAAGCCAAGGTGTGGGGATCACCCGAGGTCAAGAGTTCAAGAGCAGCCTGGCCAACATGATGAAACCCCATCTGCACTAAAAATACACAAATTAGCCGGGTGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTGAGATTCTCCTCAGCCTGGAGTGAGATCACACCACTGTACTCCAGCCTGAGCAACATAGTGAGACTCTGTCTCAAAAACAAACAAACAAACAAAACTCCTGGGCTCAAGTGATCCTCCCACTTTGGCCTCCCAAAGTGCTGGAATTACAGGCATAAGCCACCGCTCCCAACCTCCTCTTATTTTTAATAAATAAAAAAAGAACAACATAGAAACATCAAGAGATATTTTTTAAAGCTGCTTACTTTGGAGACTTGAGAACATGCACTTCGACTGAACAGAGTTTGATGAACTCCAGCACACCAGTCATCAGAAGAGGCAAGGAGGAATTCTCCCCTGAGCCTTCTGGTGGGCCCAGGAGTTCCTCGGCTTGTGTCTGAAGGCCCCTGCCTCAGTCTTCAATGAGCTTCTCCTCTGTATCTGTCTCTCTTCTGTGTCTTCTAAGGATGCTTGTCATTTGATTTCGGGCCCACCTGGATAATCCAAGATGACCTCATCTCGAGATCCTTAGCACATCTGCAAGGACCCTTTCTCCAAATAAGGTCACACTCATAGGTTCCGGGGCTGAGGACATGGATGTGCCTCTTTTGAGGTGTATACGAGACAGATGAAAACATCTGAGAAAGTTCTTTTTCATTTTTGTTGTTGTTGTTTGTTGTTGTTTTAGAGACAGGGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCATAGCTCAAGCAGCCTCGAACTCCTGGGCTCAAGCGTTCCTCCCACCTCAGCCTCCCAAGTAACTGGGACTGCAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTTTTGTAGAGATGAGGGTCTCACCATGTTGCCCAACCTGGTCTCAAACTCCTGGCCTCAAGCGGTCCTCCCGCCTCAGCCTTCCAAAGTGCTAGGATTACAGGCGTGAGCCACCACGCCCGGCCAGAAAGTTCTTTTTCATAACTCATGGCCAAACCAGAGAGCCTGAGCCCCAACTCCAGAGAAACTCTCTTCCCCTGCTTTCCCAAGGGAGCCTGGGAATCTCCCCTCTGGTTTGGACCAGAGGATGGACAGAATGACCTGTTGCTCGCCTCTCCCTTTCGGAGCCCCTCCAAGGAGGAAATGAAAGGTGGACGGCAGACAGTCGGGGGAGGCATTGCCTGTGGTGGAACCTGCCCTGCAGCTGATGCTGTTTCTTTTAGGAACTTCACGTCCATCTTCTACCCTCACTATGGCAACTGTTACATCTTCAACTGGGGCATGACAGAGAAGGCACTTCCTTCGGCCAGCCCTGGAACTGAATTCGGTGAGTTTTGGTTTATCGTGGGGCCAGAGCCATGAGGCTTTAACCACCCCCACAATGTGGGACTGAAAGACCATCAGCTGTTGCAGGGTGGGACTGAGGGGGGACCAAGGCATCAAGAGGAGTGGCTGCTACCGAGGCTCTACTGTGTGCCAGGGGAGGCCAGGCCAGGCGCTTCCTCAGCCATTCCCGCCCACAATGTTCAGAATCCGTGGGGTAGCAACTGGTGTTCCCATTTTACTGATGAGCAAAGTGAGGACTTGGAAGCAGCACAGCTTCGTGGTCAAGAGCTCAAGCTTCAGCCAGGCGTGGTGGCTCATGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGAGGATTGTTCAAGCCCAAGAGTTCGAGACCAGCCTGGGCAACAAGGTGAAACCCCATCTCTTAAAAAAAAAATACAAAAATTAGCGAGGCATGATGGCACGTACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAAGATCGCTTGAGCTGGGAAGGTCAAGGCAGCAGTGAGCCATGATCACACCACTGCAGCTCCACCATTTACTTGGGTGGTGTTCCTGAGCTCCAGAGCAACCTTCTCAAAGCCTTAGTTTCCCCAATCATAGATTAGTATATAGTAGCAGAGCAGAGCATTTAGTATAGTAAATCGTATCTACCGTGTGAGCCATGATGATGAGTAAATAGTATAAGCCTTGTGAGTCATTACGATGTAATGTGGTAAATCGTTTCACCTGCCTAGGAAGTAGGGAATGCTCCATATATGCTGAGTATTCTGAGCAGTTTTTAAACAACTTGTCCAGGATCATGCAGTTAATACATGGACCAAAAGACATTGCATGTTCTTACCTGTAAGTGGGAGCTAAATGATGTGCACACGTGGATATAGAGTGTGGAAGGAGAGACATCAGAGACTTAGAGGGTGGGAGGGTAGGAGGCAGGTGAGGGACAAGAAATTAATGAGTACAGTATATATGATTCCAGTGAAGGTTACACTAAAAGCCTAGACTTCACCACTGTATAATAATTCCATGTAACAAAACTGCGCTTGAACCCCTTACATTTATACAAATTAGAAAAAGAAAAGAAATACATAACAGTCTCTTAGTCTCTCTGCCTCTCTGGTGTACAGTTTGTTTGTTTGTTTTCTTGAGACAGGGTCTCACTCTGTCACCCAAACTGGAGTGCAGTGGCACGGTCATGGCTCACTGCAGCCTCAACCTCCTGGGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGGAGCTAGGATTGCAGGTGGCTAATTTTTTGTAGAGATAAGGTTTCATCCTGTTGCCCAGGTTGGTCTTGACCTCCTGGGCTCAAGCAATCTGCCCTCCTTGGCCTCTCAAAGTACTGGGATTACAGATGTGATCCACTGCGCCCAGCTGTACAGTTCTTAAAGAAAGACAGAGACACACAGAGAGAAGCTGAAGGAGTCCATGGAAGTGAGGAAGTGGGGCATGGTGGATGACGGATCCCCCTCCCTCGGGGCTCATGTGTTGCACTGACCCCTAGAGAGGGGCTGGTGGACTCAGGCTGGCTGTGGTTTTGCGGCTTGTGAGCCGGGCACAGGTGGGAGTGGATCCCTCCTCCCATCTCTAGGTTCTGACCTCTGCAACCACCAAGAGGCAGGCTCTCATTCAGCGACCATCGGGGCCGCTGGCCAAGAGGGCAGGTGAGCTGAGTGCCTTTCACTTAGCCCCCATGCTGCTGAGAGCACTGCCACAGAGGTGCCAGTCAACTTACTCCCAGAGGCAGATGGTTATAGTCAGGGAGCCAGCTGCTGTATCAGAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTG
|
Task1_train_22474
|
This is a variant in SCNN1B (sodium channel epithelial 1 subunit beta), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; Liddle syndrome 1
|
GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATTTTTTTTTCTCTATTTTGATATGGAGTTTTGCTCTGTCGTCCTGGCTGCAGTGCAGTGGCGCAATCTCGGCTCACTACAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGTGGCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGGAGCTCATGTTTAATGAGGCCCTTAGCACATCACCCCGCAGGTAGCAAGTGCTCAACTAGCCCTTATTGTCCTAACCAGAGGGACTCAACTCCACGTAGCTCAGGACCGTGGTGCGTGGGAGACTGGGTCCAGTCCCTTCCCTTGAGAACAGTCAAGAGGGGAAGGAAGACAGACAATAAAAGAGCAATCACACAAATGAGGCAGGTACTCAGAAGGAAAGTTCCGGGGCTAGGAAAGTGTACAACCAAGACCCTGACACCTCGTCTGAGCCATCAGAGAACGTTTCTGGAGGAAGTGATGCTGGTTGAGATCTGAGGGAAGAGCATGTGTTTCTAGGGGAAGGGAAGGGGCAGAGACAGCATTCCAGAGCTAGGGAATAGCACTCCAGATTGAGGAACAGCATTCCAGGTGAGAGAACAGAATTCCAGAGCAAGGAACAGCACTCCAGGTGAGGGAACAGCACTCCAGAGTGAGGAACAGCATTCCAGAGTGAGGGAACAGCATTTGCAAAGGCATAGCAGGAGGAAGGCGTGCAGAAGCTCGGAGGCATTGAACGGGGACAGCGAGGGCACCTGTGGTGTGAGGTGGGGTGGCATGGGTGGGCCGTGGCCATGCTATGCCTCCTTGATCTACCTCCTGATCAGAAAAGAGATCACGGGAGGCAAGAGACACCTAGGGAGGAGGCTACGTAAGAGCCTGCCTTAGAGATGATGGGGGCTTTGCAGAAGGCAAGCAGTATTTGAGGACTGAGTTTTTGCAAAGTGGAGCCAGCCTCCTTGGCGGTCCCTGGAGGTCCCCTGGCCGGAGGGAGCTTGGAGAAGTGGGTAGTGGGGTCTCCTTTCTGCCTCAGGAGAAAGTTCAGGCAGCCCTCACCCCACCCTCCCCACAGGCCTGAAGTTGATCCTGGACATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGGGTCAGGCTGATGCTTCACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACAGAGACGTCCATCGGGGTACTCGTGGTATGGCCGGAGCCCAAGGGCAGTCCTAGAGGGTCTGAGGGTGGGAGCCCACCTGTCCAGGGCCAACTGCCCTTGGCCTGGGAGGAGGGGATCTGGGCCCCCCAGCCCTGGCCTTCCTTCCTTTTGGCTGGAATCCCCCCAGGGTGGCCCAAGCTTTAGGGGAAGGTGAGCCCTCTGGCGCCCCCTCTGGCGCCCCCCCTGGCACCTGCAGGGGTCCACAGCCCTCTGTCCCCAAATGCTTGATAGAAGGGAGGTGCAGAAAGGGCTTCCTGGGGTGACCAGTGTCCCCCTCAAGCAACCCCTCTAAACACAGGACAAGCTTCAGCGCATGGGGGAGCCCTACAGCCCGTGCACCGTGAATGGTTCTGAGGTCCCCGTCCAAAACTTCTACAGTGACTACAACACGACCTACTCCATCCAGGTGGGAAGGTGGTGCACGCCTCATGCCCCGGGGCCCCTGTCCGGGTTTATGGGGCCAAGGCCTCAGTACTCCGGGAGAGCTGGCCCCAGCAAGTCTGGCTCTGCTGGGCCTTTGTAGGTTGCCACGGGGCACCCCGGGCCTGTGGGACCAGTCACTTTCCTGGGCTCTCTCACCAGGGCCTAGGGTTGGCCACTTCTCATCCCCACATTGGCAGGTGTACCCCTGGGGAAGCCCAGGGGATTATGGGGATCTTACTCTGGGGTTTCCCAAGATGAAAACAAAAAATAGCAGCTAACACCATCAAGCTTCCATTGTGTGTGAAATGCTGTGCGAAGGGCTGGAACACATTCCATCGTCATTTAATCTTTCAACTGCCTCCTGCCATGAATCTACAATATAGTAATGACAGCAGCATTTATTGATAAACTAATAATAGCAGGGTTACCATGTGTTAGGCAGTCACTGTTGTAAGTAATTTACATGTATATTACATCATTTAACTTTCACAACAACCCTAAGATGTAGATACTATTATCATTCCCATTCTGGGAATGAGGAAATTGGGATTGACAGACCCCAGTTCAAATGCATCATCAATTTACCTGAGAAGTCCCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGCGTGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGCCCACCGCTACACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCCGGACTTTATTATTATTTTTTTAAAAGAGATTGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTGCGAAGCGGGTACATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAATTAGCCAGGCGTCGTGGCACACGCCTGTAGTCCCAGCTGTGCAGGGGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGATATCACGCCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTCTTGTCTCAAAAAAGTAAAATAATAAAATAAAAAAGAGAGACAGGGTCTTGCTCTGTTACCCAGGCTGAAGTGCTGTGGTGCCATCATAGTTCACTGCAGCCTCGAACTCTTGGATTCAAGCAATCCGCCTGCCTCAGCCTCCCTAGTAGCCAGGACCACAGGCATGAGCCACTGTCCCTGGCTAATTTCTTAATTTTTAAAATTTTTTGCAGAGACAGAGTCTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACTCTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCACTGGAAGTCCCTCTTTGCATCTGCCTTCAATCCCCCTTGCTGTAGCTGGAGGCTTCCTTCTCATCCTGATCTCCAGAGTTAACCCAGACCTGCCACTAGTCCTGGCCCCCTTGGAGAGGGCAGACTGAATCCTTGCAAAGGTGACAAAAATGACCACTCGCTGATACTTCCTCTCCAGCCCAGTCTGCCTTGCCATATCAGTGCACTGAGTCATAACAAGAGGGCAGCCCAGTGCCTGCCTCAGTGTCTGGGTGCCCGAGCATGGCATGGTTTGCCCTTTCCCCGTAGGAAATGACCCTCCTGGTGCCCACCTGCCCACCCATTGCCTGGCTGGTTTGGCCACCTCGCGTCTGGAGGGACTTCTGCCCATTATGGAGAACTCTAGCCGTCATCTGAGCCTCTGGAGGGACAGACAGACAGACAGGACAGTACAGGGAGGTGGGAAACACGGAGAAGAAG
|
GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATTTTTTTTTCTCTATTTTGATATGGAGTTTTGCTCTGTCGTCCTGGCTGCAGTGCAGTGGCGCAATCTCGGCTCACTACAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGTGGCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGGAGCTCATGTTTAATGAGGCCCTTAGCACATCACCCCGCAGGTAGCAAGTGCTCAACTAGCCCTTATTGTCCTAACCAGAGGGACTCAACTCCACGTAGCTCAGGACCGTGGTGCGTGGGAGACTGGGTCCAGTCCCTTCCCTTGAGAACAGTCAAGAGGGGAAGGAAGACAGACAATAAAAGAGCAATCACACAAATGAGGCAGGTACTCAGAAGGAAAGTTCCGGGGCTAGGAAAGTGTACAACCAAGACCCTGACACCTCGTCTGAGCCATCAGAGAACGTTTCTGGAGGAAGTGATGCTGGTTGAGATCTGAGGGAAGAGCATGTGTTTCTAGGGGAAGGGAAGGGGCAGAGACAGCATTCCAGAGCTAGGGAATAGCACTCCAGATTGAGGAACAGCATTCCAGGTGAGAGAACAGAATTCCAGAGCAAGGAACAGCACTCCAGGTGAGGGAACAGCACTCCAGAGTGAGGAACAGCATTCCAGAGTGAGGGAACAGCATTTGCAAAGGCATAGCAGGAGGAAGGCGTGCAGAAGCTCGGAGGCATTGAACGGGGACAGCGAGGGCACCTGTGGTGTGAGGTGGGGTGGCATGGGTGGGCCGTGGCCATGCTATGCCTCCTTGATCTACCTCCTGATCAGAAAAGAGATCACGGGAGGCAAGAGACACCTAGGGAGGAGGCTACGTAAGAGCCTGCCTTAGAGATGATGGGGGCTTTGCAGAAGGCAAGCAGTATTTGAGGACTGAGTTTTTGCAAAGTGGAGCCAGCCTCCTTGGCGGTCCCTGGAGGTCCCCTGGCCGGAGGGAGCTTGGAGAAGTGGGTAGTGGGGTCTCCTTTCTGCCTCAGGAGAAAGTTCAGGCAGCCCTCACCCCACCCTCCCCACAGGCCTGAAGTTGATCCTGGACATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGGGTCAGGCTGATGCTTCACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACAGAGACGTCCATCGGGGTACTCGTGGTATGGCCGGAGCCCAAGGGCAGTCCTAGAGGGTCTGAGGGTGGGAGCCCACCTGTCCAGGGCCAACTGCCCTTGGCCTGGGAGGAGGGGATCTGGGCCCCCCAGCCCTGGCCTTCCTTCCTTTTGGCTGGAATCCCCCCAGGGTGGCCCAAGCTTTAGGGGAAGGTGAGCCCTCTGGCGCCCCCTCTGGCGCCCCCCCTGGCACCTGCAGGGGTCCACAGCCCTCTGTCCCCAAATGCTTGATAGAAGGGAGGTGCAGAAAGGGCTTCCTGGGGTGACCAGTGTCCCCCTCAAGCAACCCCTCTAAACACAGGACAAGCTTCAGCGCATGGGGGAGCCCTACAGCCCGTGCACCGTGAATGGTTCTGAGGTCACCGTCCAAAACTTCTACAGTGACTACAACACGACCTACTCCATCCAGGTGGGAAGGTGGTGCACGCCTCATGCCCCGGGGCCCCTGTCCGGGTTTATGGGGCCAAGGCCTCAGTACTCCGGGAGAGCTGGCCCCAGCAAGTCTGGCTCTGCTGGGCCTTTGTAGGTTGCCACGGGGCACCCCGGGCCTGTGGGACCAGTCACTTTCCTGGGCTCTCTCACCAGGGCCTAGGGTTGGCCACTTCTCATCCCCACATTGGCAGGTGTACCCCTGGGGAAGCCCAGGGGATTATGGGGATCTTACTCTGGGGTTTCCCAAGATGAAAACAAAAAATAGCAGCTAACACCATCAAGCTTCCATTGTGTGTGAAATGCTGTGCGAAGGGCTGGAACACATTCCATCGTCATTTAATCTTTCAACTGCCTCCTGCCATGAATCTACAATATAGTAATGACAGCAGCATTTATTGATAAACTAATAATAGCAGGGTTACCATGTGTTAGGCAGTCACTGTTGTAAGTAATTTACATGTATATTACATCATTTAACTTTCACAACAACCCTAAGATGTAGATACTATTATCATTCCCATTCTGGGAATGAGGAAATTGGGATTGACAGACCCCAGTTCAAATGCATCATCAATTTACCTGAGAAGTCCCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGCGTGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGCCCACCGCTACACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCCGGACTTTATTATTATTTTTTTAAAAGAGATTGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTGCGAAGCGGGTACATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAATTAGCCAGGCGTCGTGGCACACGCCTGTAGTCCCAGCTGTGCAGGGGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGATATCACGCCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTCTTGTCTCAAAAAAGTAAAATAATAAAATAAAAAAGAGAGACAGGGTCTTGCTCTGTTACCCAGGCTGAAGTGCTGTGGTGCCATCATAGTTCACTGCAGCCTCGAACTCTTGGATTCAAGCAATCCGCCTGCCTCAGCCTCCCTAGTAGCCAGGACCACAGGCATGAGCCACTGTCCCTGGCTAATTTCTTAATTTTTAAAATTTTTTGCAGAGACAGAGTCTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACTCTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCACTGGAAGTCCCTCTTTGCATCTGCCTTCAATCCCCCTTGCTGTAGCTGGAGGCTTCCTTCTCATCCTGATCTCCAGAGTTAACCCAGACCTGCCACTAGTCCTGGCCCCCTTGGAGAGGGCAGACTGAATCCTTGCAAAGGTGACAAAAATGACCACTCGCTGATACTTCCTCTCCAGCCCAGTCTGCCTTGCCATATCAGTGCACTGAGTCATAACAAGAGGGCAGCCCAGTGCCTGCCTCAGTGTCTGGGTGCCCGAGCATGGCATGGTTTGCCCTTTCCCCGTAGGAAATGACCCTCCTGGTGCCCACCTGCCCACCCATTGCCTGGCTGGTTTGGCCACCTCGCGTCTGGAGGGACTTCTGCCCATTATGGAGAACTCTAGCCGTCATCTGAGCCTCTGGAGGGACAGACAGACAGACAGGACAGTACAGGGAGGTGGGAAACACGGAGAAGAAG
|
Task1_train_22475
|
This variant impacts the gene SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is the change likely to result in a pathogenic outcome?
|
Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive
|
GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATTTTTTTTTCTCTATTTTGATATGGAGTTTTGCTCTGTCGTCCTGGCTGCAGTGCAGTGGCGCAATCTCGGCTCACTACAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGTGGCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGGAGCTCATGTTTAATGAGGCCCTTAGCACATCACCCCGCAGGTAGCAAGTGCTCAACTAGCCCTTATTGTCCTAACCAGAGGGACTCAACTCCACGTAGCTCAGGACCGTGGTGCGTGGGAGACTGGGTCCAGTCCCTTCCCTTGAGAACAGTCAAGAGGGGAAGGAAGACAGACAATAAAAGAGCAATCACACAAATGAGGCAGGTACTCAGAAGGAAAGTTCCGGGGCTAGGAAAGTGTACAACCAAGACCCTGACACCTCGTCTGAGCCATCAGAGAACGTTTCTGGAGGAAGTGATGCTGGTTGAGATCTGAGGGAAGAGCATGTGTTTCTAGGGGAAGGGAAGGGGCAGAGACAGCATTCCAGAGCTAGGGAATAGCACTCCAGATTGAGGAACAGCATTCCAGGTGAGAGAACAGAATTCCAGAGCAAGGAACAGCACTCCAGGTGAGGGAACAGCACTCCAGAGTGAGGAACAGCATTCCAGAGTGAGGGAACAGCATTTGCAAAGGCATAGCAGGAGGAAGGCGTGCAGAAGCTCGGAGGCATTGAACGGGGACAGCGAGGGCACCTGTGGTGTGAGGTGGGGTGGCATGGGTGGGCCGTGGCCATGCTATGCCTCCTTGATCTACCTCCTGATCAGAAAAGAGATCACGGGAGGCAAGAGACACCTAGGGAGGAGGCTACGTAAGAGCCTGCCTTAGAGATGATGGGGGCTTTGCAGAAGGCAAGCAGTATTTGAGGACTGAGTTTTTGCAAAGTGGAGCCAGCCTCCTTGGCGGTCCCTGGAGGTCCCCTGGCCGGAGGGAGCTTGGAGAAGTGGGTAGTGGGGTCTCCTTTCTGCCTCAGGAGAAAGTTCAGGCAGCCCTCACCCCACCCTCCCCACAGGCCTGAAGTTGATCCTGGACATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGGGTCAGGCTGATGCTTCACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACAGAGACGTCCATCGGGGTACTCGTGGTATGGCCGGAGCCCAAGGGCAGTCCTAGAGGGTCTGAGGGTGGGAGCCCACCTGTCCAGGGCCAACTGCCCTTGGCCTGGGAGGAGGGGATCTGGGCCCCCCAGCCCTGGCCTTCCTTCCTTTTGGCTGGAATCCCCCCAGGGTGGCCCAAGCTTTAGGGGAAGGTGAGCCCTCTGGCGCCCCCTCTGGCGCCCCCCCTGGCACCTGCAGGGGTCCACAGCCCTCTGTCCCCAAATGCTTGATAGAAGGGAGGTGCAGAAAGGGCTTCCTGGGGTGACCAGTGTCCCCCTCAAGCAACCCCTCTAAACACAGGACAAGCTTCAGCGCATGGGGGAGCCCTACAGCCCGTGCACCGTGAATGGTTCTGAGGTCCCCGTCCAAAACTTCTACAGTGACTACAACACGACCTACTCCATCCAGGTGGGAAGGTGGTGCACGCCTCATGCCCCGGGGCCCCTGTCCGGGTTTATGGGGCCAAGGCCTCAGTACTCCGGGAGAGCTGGCCCCAGCAAGTCTGGCTCTGCTGGGCCTTTGTAGGTTGCCACGGGGCACCCCGGGCCTGTGGGACCAGTCACTTTCCTGGGCTCTCTCACCAGGGCCTAGGGTTGGCCACTTCTCATCCCCACATTGGCAGGTGTACCCCTGGGGAAGCCCAGGGGATTATGGGGATCTTACTCTGGGGTTTCCCAAGATGAAAACAAAAAATAGCAGCTAACACCATCAAGCTTCCATTGTGTGTGAAATGCTGTGCGAAGGGCTGGAACACATTCCATCGTCATTTAATCTTTCAACTGCCTCCTGCCATGAATCTACAATATAGTAATGACAGCAGCATTTATTGATAAACTAATAATAGCAGGGTTACCATGTGTTAGGCAGTCACTGTTGTAAGTAATTTACATGTATATTACATCATTTAACTTTCACAACAACCCTAAGATGTAGATACTATTATCATTCCCATTCTGGGAATGAGGAAATTGGGATTGACAGACCCCAGTTCAAATGCATCATCAATTTACCTGAGAAGTCCCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGCGTGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGCCCACCGCTACACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCCGGACTTTATTATTATTTTTTTAAAAGAGATTGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTGCGAAGCGGGTACATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAATTAGCCAGGCGTCGTGGCACACGCCTGTAGTCCCAGCTGTGCAGGGGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGATATCACGCCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTCTTGTCTCAAAAAAGTAAAATAATAAAATAAAAAAGAGAGACAGGGTCTTGCTCTGTTACCCAGGCTGAAGTGCTGTGGTGCCATCATAGTTCACTGCAGCCTCGAACTCTTGGATTCAAGCAATCCGCCTGCCTCAGCCTCCCTAGTAGCCAGGACCACAGGCATGAGCCACTGTCCCTGGCTAATTTCTTAATTTTTAAAATTTTTTGCAGAGACAGAGTCTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACTCTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCACTGGAAGTCCCTCTTTGCATCTGCCTTCAATCCCCCTTGCTGTAGCTGGAGGCTTCCTTCTCATCCTGATCTCCAGAGTTAACCCAGACCTGCCACTAGTCCTGGCCCCCTTGGAGAGGGCAGACTGAATCCTTGCAAAGGTGACAAAAATGACCACTCGCTGATACTTCCTCTCCAGCCCAGTCTGCCTTGCCATATCAGTGCACTGAGTCATAACAAGAGGGCAGCCCAGTGCCTGCCTCAGTGTCTGGGTGCCCGAGCATGGCATGGTTTGCCCTTTCCCCGTAGGAAATGACCCTCCTGGTGCCCACCTGCCCACCCATTGCCTGGCTGGTTTGGCCACCTCGCGTCTGGAGGGACTTCTGCCCATTATGGAGAACTCTAGCCGTCATCTGAGCCTCTGGAGGGACAGACAGACAGACAGGACAGTACAGGGAGGTGGGAAACACGGAGAAGAAG
|
GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATTTTTTTTTCTCTATTTTGATATGGAGTTTTGCTCTGTCGTCCTGGCTGCAGTGCAGTGGCGCAATCTCGGCTCACTACAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGTGGCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGGAGCTCATGTTTAATGAGGCCCTTAGCACATCACCCCGCAGGTAGCAAGTGCTCAACTAGCCCTTATTGTCCTAACCAGAGGGACTCAACTCCACGTAGCTCAGGACCGTGGTGCGTGGGAGACTGGGTCCAGTCCCTTCCCTTGAGAACAGTCAAGAGGGGAAGGAAGACAGACAATAAAAGAGCAATCACACAAATGAGGCAGGTACTCAGAAGGAAAGTTCCGGGGCTAGGAAAGTGTACAACCAAGACCCTGACACCTCGTCTGAGCCATCAGAGAACGTTTCTGGAGGAAGTGATGCTGGTTGAGATCTGAGGGAAGAGCATGTGTTTCTAGGGGAAGGGAAGGGGCAGAGACAGCATTCCAGAGCTAGGGAATAGCACTCCAGATTGAGGAACAGCATTCCAGGTGAGAGAACAGAATTCCAGAGCAAGGAACAGCACTCCAGGTGAGGGAACAGCACTCCAGAGTGAGGAACAGCATTCCAGAGTGAGGGAACAGCATTTGCAAAGGCATAGCAGGAGGAAGGCGTGCAGAAGCTCGGAGGCATTGAACGGGGACAGCGAGGGCACCTGTGGTGTGAGGTGGGGTGGCATGGGTGGGCCGTGGCCATGCTATGCCTCCTTGATCTACCTCCTGATCAGAAAAGAGATCACGGGAGGCAAGAGACACCTAGGGAGGAGGCTACGTAAGAGCCTGCCTTAGAGATGATGGGGGCTTTGCAGAAGGCAAGCAGTATTTGAGGACTGAGTTTTTGCAAAGTGGAGCCAGCCTCCTTGGCGGTCCCTGGAGGTCCCCTGGCCGGAGGGAGCTTGGAGAAGTGGGTAGTGGGGTCTCCTTTCTGCCTCAGGAGAAAGTTCAGGCAGCCCTCACCCCACCCTCCCCACAGGCCTGAAGTTGATCCTGGACATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGGGTCAGGCTGATGCTTCACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACAGAGACGTCCATCGGGGTACTCGTGGTATGGCCGGAGCCCAAGGGCAGTCCTAGAGGGTCTGAGGGTGGGAGCCCACCTGTCCAGGGCCAACTGCCCTTGGCCTGGGAGGAGGGGATCTGGGCCCCCCAGCCCTGGCCTTCCTTCCTTTTGGCTGGAATCCCCCCAGGGTGGCCCAAGCTTTAGGGGAAGGTGAGCCCTCTGGCGCCCCCTCTGGCGCCCCCCCTGGCACCTGCAGGGGTCCACAGCCCTCTGTCCCCAAATGCTTGATAGAAGGGAGGTGCAGAAAGGGCTTCCTGGGGTGACCAGTGTCCCCCTCAAGCAACCCCTCTAAACACAGGACAAGCTTCAGCGCATGGGGGAGCCCTACAGCCCGTGCACCGTGAATGGTTCTGAGGTCACCGTCCAAAACTTCTACAGTGACTACAACACGACCTACTCCATCCAGGTGGGAAGGTGGTGCACGCCTCATGCCCCGGGGCCCCTGTCCGGGTTTATGGGGCCAAGGCCTCAGTACTCCGGGAGAGCTGGCCCCAGCAAGTCTGGCTCTGCTGGGCCTTTGTAGGTTGCCACGGGGCACCCCGGGCCTGTGGGACCAGTCACTTTCCTGGGCTCTCTCACCAGGGCCTAGGGTTGGCCACTTCTCATCCCCACATTGGCAGGTGTACCCCTGGGGAAGCCCAGGGGATTATGGGGATCTTACTCTGGGGTTTCCCAAGATGAAAACAAAAAATAGCAGCTAACACCATCAAGCTTCCATTGTGTGTGAAATGCTGTGCGAAGGGCTGGAACACATTCCATCGTCATTTAATCTTTCAACTGCCTCCTGCCATGAATCTACAATATAGTAATGACAGCAGCATTTATTGATAAACTAATAATAGCAGGGTTACCATGTGTTAGGCAGTCACTGTTGTAAGTAATTTACATGTATATTACATCATTTAACTTTCACAACAACCCTAAGATGTAGATACTATTATCATTCCCATTCTGGGAATGAGGAAATTGGGATTGACAGACCCCAGTTCAAATGCATCATCAATTTACCTGAGAAGTCCCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGCGTGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGCCCACCGCTACACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCCGGACTTTATTATTATTTTTTTAAAAGAGATTGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTGCGAAGCGGGTACATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAATTAGCCAGGCGTCGTGGCACACGCCTGTAGTCCCAGCTGTGCAGGGGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGATATCACGCCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTCTTGTCTCAAAAAAGTAAAATAATAAAATAAAAAAGAGAGACAGGGTCTTGCTCTGTTACCCAGGCTGAAGTGCTGTGGTGCCATCATAGTTCACTGCAGCCTCGAACTCTTGGATTCAAGCAATCCGCCTGCCTCAGCCTCCCTAGTAGCCAGGACCACAGGCATGAGCCACTGTCCCTGGCTAATTTCTTAATTTTTAAAATTTTTTGCAGAGACAGAGTCTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACTCTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCACTGGAAGTCCCTCTTTGCATCTGCCTTCAATCCCCCTTGCTGTAGCTGGAGGCTTCCTTCTCATCCTGATCTCCAGAGTTAACCCAGACCTGCCACTAGTCCTGGCCCCCTTGGAGAGGGCAGACTGAATCCTTGCAAAGGTGACAAAAATGACCACTCGCTGATACTTCCTCTCCAGCCCAGTCTGCCTTGCCATATCAGTGCACTGAGTCATAACAAGAGGGCAGCCCAGTGCCTGCCTCAGTGTCTGGGTGCCCGAGCATGGCATGGTTTGCCCTTTCCCCGTAGGAAATGACCCTCCTGGTGCCCACCTGCCCACCCATTGCCTGGCTGGTTTGGCCACCTCGCGTCTGGAGGGACTTCTGCCCATTATGGAGAACTCTAGCCGTCATCTGAGCCTCTGGAGGGACAGACAGACAGACAGGACAGTACAGGGAGGTGGGAAACACGGAGAAGAAG
|
Task1_train_22476
|
Assess the clinical impact of this variant on gene SCNN1B (sodium channel epithelial 1 subunit beta), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Bronchiectasis with or without elevated sweat chloride 1
|
GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATTTTTTTTTCTCTATTTTGATATGGAGTTTTGCTCTGTCGTCCTGGCTGCAGTGCAGTGGCGCAATCTCGGCTCACTACAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGTGGCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGGAGCTCATGTTTAATGAGGCCCTTAGCACATCACCCCGCAGGTAGCAAGTGCTCAACTAGCCCTTATTGTCCTAACCAGAGGGACTCAACTCCACGTAGCTCAGGACCGTGGTGCGTGGGAGACTGGGTCCAGTCCCTTCCCTTGAGAACAGTCAAGAGGGGAAGGAAGACAGACAATAAAAGAGCAATCACACAAATGAGGCAGGTACTCAGAAGGAAAGTTCCGGGGCTAGGAAAGTGTACAACCAAGACCCTGACACCTCGTCTGAGCCATCAGAGAACGTTTCTGGAGGAAGTGATGCTGGTTGAGATCTGAGGGAAGAGCATGTGTTTCTAGGGGAAGGGAAGGGGCAGAGACAGCATTCCAGAGCTAGGGAATAGCACTCCAGATTGAGGAACAGCATTCCAGGTGAGAGAACAGAATTCCAGAGCAAGGAACAGCACTCCAGGTGAGGGAACAGCACTCCAGAGTGAGGAACAGCATTCCAGAGTGAGGGAACAGCATTTGCAAAGGCATAGCAGGAGGAAGGCGTGCAGAAGCTCGGAGGCATTGAACGGGGACAGCGAGGGCACCTGTGGTGTGAGGTGGGGTGGCATGGGTGGGCCGTGGCCATGCTATGCCTCCTTGATCTACCTCCTGATCAGAAAAGAGATCACGGGAGGCAAGAGACACCTAGGGAGGAGGCTACGTAAGAGCCTGCCTTAGAGATGATGGGGGCTTTGCAGAAGGCAAGCAGTATTTGAGGACTGAGTTTTTGCAAAGTGGAGCCAGCCTCCTTGGCGGTCCCTGGAGGTCCCCTGGCCGGAGGGAGCTTGGAGAAGTGGGTAGTGGGGTCTCCTTTCTGCCTCAGGAGAAAGTTCAGGCAGCCCTCACCCCACCCTCCCCACAGGCCTGAAGTTGATCCTGGACATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGGGTCAGGCTGATGCTTCACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACAGAGACGTCCATCGGGGTACTCGTGGTATGGCCGGAGCCCAAGGGCAGTCCTAGAGGGTCTGAGGGTGGGAGCCCACCTGTCCAGGGCCAACTGCCCTTGGCCTGGGAGGAGGGGATCTGGGCCCCCCAGCCCTGGCCTTCCTTCCTTTTGGCTGGAATCCCCCCAGGGTGGCCCAAGCTTTAGGGGAAGGTGAGCCCTCTGGCGCCCCCTCTGGCGCCCCCCCTGGCACCTGCAGGGGTCCACAGCCCTCTGTCCCCAAATGCTTGATAGAAGGGAGGTGCAGAAAGGGCTTCCTGGGGTGACCAGTGTCCCCCTCAAGCAACCCCTCTAAACACAGGACAAGCTTCAGCGCATGGGGGAGCCCTACAGCCCGTGCACCGTGAATGGTTCTGAGGTCCCCGTCCAAAACTTCTACAGTGACTACAACACGACCTACTCCATCCAGGTGGGAAGGTGGTGCACGCCTCATGCCCCGGGGCCCCTGTCCGGGTTTATGGGGCCAAGGCCTCAGTACTCCGGGAGAGCTGGCCCCAGCAAGTCTGGCTCTGCTGGGCCTTTGTAGGTTGCCACGGGGCACCCCGGGCCTGTGGGACCAGTCACTTTCCTGGGCTCTCTCACCAGGGCCTAGGGTTGGCCACTTCTCATCCCCACATTGGCAGGTGTACCCCTGGGGAAGCCCAGGGGATTATGGGGATCTTACTCTGGGGTTTCCCAAGATGAAAACAAAAAATAGCAGCTAACACCATCAAGCTTCCATTGTGTGTGAAATGCTGTGCGAAGGGCTGGAACACATTCCATCGTCATTTAATCTTTCAACTGCCTCCTGCCATGAATCTACAATATAGTAATGACAGCAGCATTTATTGATAAACTAATAATAGCAGGGTTACCATGTGTTAGGCAGTCACTGTTGTAAGTAATTTACATGTATATTACATCATTTAACTTTCACAACAACCCTAAGATGTAGATACTATTATCATTCCCATTCTGGGAATGAGGAAATTGGGATTGACAGACCCCAGTTCAAATGCATCATCAATTTACCTGAGAAGTCCCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGCGTGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGCCCACCGCTACACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCCGGACTTTATTATTATTTTTTTAAAAGAGATTGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTGCGAAGCGGGTACATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAATTAGCCAGGCGTCGTGGCACACGCCTGTAGTCCCAGCTGTGCAGGGGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGATATCACGCCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTCTTGTCTCAAAAAAGTAAAATAATAAAATAAAAAAGAGAGACAGGGTCTTGCTCTGTTACCCAGGCTGAAGTGCTGTGGTGCCATCATAGTTCACTGCAGCCTCGAACTCTTGGATTCAAGCAATCCGCCTGCCTCAGCCTCCCTAGTAGCCAGGACCACAGGCATGAGCCACTGTCCCTGGCTAATTTCTTAATTTTTAAAATTTTTTGCAGAGACAGAGTCTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACTCTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCACTGGAAGTCCCTCTTTGCATCTGCCTTCAATCCCCCTTGCTGTAGCTGGAGGCTTCCTTCTCATCCTGATCTCCAGAGTTAACCCAGACCTGCCACTAGTCCTGGCCCCCTTGGAGAGGGCAGACTGAATCCTTGCAAAGGTGACAAAAATGACCACTCGCTGATACTTCCTCTCCAGCCCAGTCTGCCTTGCCATATCAGTGCACTGAGTCATAACAAGAGGGCAGCCCAGTGCCTGCCTCAGTGTCTGGGTGCCCGAGCATGGCATGGTTTGCCCTTTCCCCGTAGGAAATGACCCTCCTGGTGCCCACCTGCCCACCCATTGCCTGGCTGGTTTGGCCACCTCGCGTCTGGAGGGACTTCTGCCCATTATGGAGAACTCTAGCCGTCATCTGAGCCTCTGGAGGGACAGACAGACAGACAGGACAGTACAGGGAGGTGGGAAACACGGAGAAGAAG
|
GAAGCCCAGCAAAAGCACTTCCTCACTGGAAGACCTCAGACAAGTCCCTTCACTTCTCTGTGCCTCAGTTTCTCCATCTGTAAAATGGGGACAATACTAGTACCTCCATCATGCAGCCCTTGTGAGCATCCGAGGAGCTCATGTTTATTTTATTTTATTTTTGGAGATGGAGTCTCACTCTCGCTCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCGCCACAATGCCCAACTAATTTTTGTATTTTTTTTTCTCTATTTTGATATGGAGTTTTGCTCTGTCGTCCTGGCTGCAGTGCAGTGGCGCAATCTCGGCTCACTACAACCTCTGTCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGTTGGGATTACAGGTGGCCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTAGCCAGGTTGGTCTTGAACTCCTGACCTCAAGTGATCTGCCCGCTTCAGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACTGTGCCCGGCCAAGGAGCTCATGTTTAATGAGGCCCTTAGCACATCACCCCGCAGGTAGCAAGTGCTCAACTAGCCCTTATTGTCCTAACCAGAGGGACTCAACTCCACGTAGCTCAGGACCGTGGTGCGTGGGAGACTGGGTCCAGTCCCTTCCCTTGAGAACAGTCAAGAGGGGAAGGAAGACAGACAATAAAAGAGCAATCACACAAATGAGGCAGGTACTCAGAAGGAAAGTTCCGGGGCTAGGAAAGTGTACAACCAAGACCCTGACACCTCGTCTGAGCCATCAGAGAACGTTTCTGGAGGAAGTGATGCTGGTTGAGATCTGAGGGAAGAGCATGTGTTTCTAGGGGAAGGGAAGGGGCAGAGACAGCATTCCAGAGCTAGGGAATAGCACTCCAGATTGAGGAACAGCATTCCAGGTGAGAGAACAGAATTCCAGAGCAAGGAACAGCACTCCAGGTGAGGGAACAGCACTCCAGAGTGAGGAACAGCATTCCAGAGTGAGGGAACAGCATTTGCAAAGGCATAGCAGGAGGAAGGCGTGCAGAAGCTCGGAGGCATTGAACGGGGACAGCGAGGGCACCTGTGGTGTGAGGTGGGGTGGCATGGGTGGGCCGTGGCCATGCTATGCCTCCTTGATCTACCTCCTGATCAGAAAAGAGATCACGGGAGGCAAGAGACACCTAGGGAGGAGGCTACGTAAGAGCCTGCCTTAGAGATGATGGGGGCTTTGCAGAAGGCAAGCAGTATTTGAGGACTGAGTTTTTGCAAAGTGGAGCCAGCCTCCTTGGCGGTCCCTGGAGGTCCCCTGGCCGGAGGGAGCTTGGAGAAGTGGGTAGTGGGGTCTCCTTTCTGCCTCAGGAGAAAGTTCAGGCAGCCCTCACCCCACCCTCCCCACAGGCCTGAAGTTGATCCTGGACATAGGCCAGGAAGACTACGTCCCCTTCCTTGCGTCCACGGCCGGGGTCAGGCTGATGCTTCACGAGCAGAGGTCATACCCCTTCATCAGAGATGAGGGCATCTACGCCATGTCGGGGACAGAGACGTCCATCGGGGTACTCGTGGTATGGCCGGAGCCCAAGGGCAGTCCTAGAGGGTCTGAGGGTGGGAGCCCACCTGTCCAGGGCCAACTGCCCTTGGCCTGGGAGGAGGGGATCTGGGCCCCCCAGCCCTGGCCTTCCTTCCTTTTGGCTGGAATCCCCCCAGGGTGGCCCAAGCTTTAGGGGAAGGTGAGCCCTCTGGCGCCCCCTCTGGCGCCCCCCCTGGCACCTGCAGGGGTCCACAGCCCTCTGTCCCCAAATGCTTGATAGAAGGGAGGTGCAGAAAGGGCTTCCTGGGGTGACCAGTGTCCCCCTCAAGCAACCCCTCTAAACACAGGACAAGCTTCAGCGCATGGGGGAGCCCTACAGCCCGTGCACCGTGAATGGTTCTGAGGTCACCGTCCAAAACTTCTACAGTGACTACAACACGACCTACTCCATCCAGGTGGGAAGGTGGTGCACGCCTCATGCCCCGGGGCCCCTGTCCGGGTTTATGGGGCCAAGGCCTCAGTACTCCGGGAGAGCTGGCCCCAGCAAGTCTGGCTCTGCTGGGCCTTTGTAGGTTGCCACGGGGCACCCCGGGCCTGTGGGACCAGTCACTTTCCTGGGCTCTCTCACCAGGGCCTAGGGTTGGCCACTTCTCATCCCCACATTGGCAGGTGTACCCCTGGGGAAGCCCAGGGGATTATGGGGATCTTACTCTGGGGTTTCCCAAGATGAAAACAAAAAATAGCAGCTAACACCATCAAGCTTCCATTGTGTGTGAAATGCTGTGCGAAGGGCTGGAACACATTCCATCGTCATTTAATCTTTCAACTGCCTCCTGCCATGAATCTACAATATAGTAATGACAGCAGCATTTATTGATAAACTAATAATAGCAGGGTTACCATGTGTTAGGCAGTCACTGTTGTAAGTAATTTACATGTATATTACATCATTTAACTTTCACAACAACCCTAAGATGTAGATACTATTATCATTCCCATTCTGGGAATGAGGAAATTGGGATTGACAGACCCCAGTTCAAATGCATCATCAATTTACCTGAGAAGTCCCTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCGGTGGCGTGATATTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCTGCCTCAGCCTCCCGTGTAGCTGGGACTACAGGTGCCCACCGCTACACCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAAGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATAACAGGCATGAGCCACCGCACCCGGACTTTATTATTATTTTTTTAAAAGAGATTGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGTGCGAAGCGGGTACATCACTTGAGGTCAGAAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAATTAGCCAGGCGTCGTGGCACACGCCTGTAGTCCCAGCTGTGCAGGGGGCTGAGGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCTGATATCACGCCACTGCACTCCAGCCTGAGTGACAGAGTGAGACTCTTGTCTCAAAAAAGTAAAATAATAAAATAAAAAAGAGAGACAGGGTCTTGCTCTGTTACCCAGGCTGAAGTGCTGTGGTGCCATCATAGTTCACTGCAGCCTCGAACTCTTGGATTCAAGCAATCCGCCTGCCTCAGCCTCCCTAGTAGCCAGGACCACAGGCATGAGCCACTGTCCCTGGCTAATTTCTTAATTTTTAAAATTTTTTGCAGAGACAGAGTCTTGCTATGTTGCCCAGGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCCACTCTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCACTGGAAGTCCCTCTTTGCATCTGCCTTCAATCCCCCTTGCTGTAGCTGGAGGCTTCCTTCTCATCCTGATCTCCAGAGTTAACCCAGACCTGCCACTAGTCCTGGCCCCCTTGGAGAGGGCAGACTGAATCCTTGCAAAGGTGACAAAAATGACCACTCGCTGATACTTCCTCTCCAGCCCAGTCTGCCTTGCCATATCAGTGCACTGAGTCATAACAAGAGGGCAGCCCAGTGCCTGCCTCAGTGTCTGGGTGCCCGAGCATGGCATGGTTTGCCCTTTCCCCGTAGGAAATGACCCTCCTGGTGCCCACCTGCCCACCCATTGCCTGGCTGGTTTGGCCACCTCGCGTCTGGAGGGACTTCTGCCCATTATGGAGAACTCTAGCCGTCATCTGAGCCTCTGGAGGGACAGACAGACAGACAGGACAGTACAGGGAGGTGGGAAACACGGAGAAGAAG
|
Task1_train_22477
|
The variant affects gene SCNN1B (sodium channel epithelial 1 subunit beta), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Bronchiectasis with or without elevated sweat chloride 1
|
TGTGAGGACCAGAGGTGGGAGAGAGCCGGGCAGGGTGGCCAGGCCCGCCGAGGAAGAGTCTGGAGGCCCGAGTCCTTCCTCCCCTAGAACAGCAGCCACAGCTTCCACTACGACCTTCCTCCTGCTCCTCATCCAAATTGTGATTCCCCCGGGGGCCTCAGGAAGGGACAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAG
|
TGTGAGGACCAGAGGTGGGAGAGAGCCGGGCAGGGTGGCCAGGCCCGCCGAGGAAGAGTCTGGAGGCCCGAGTCCTTCCTCCCCTAGAACAGCAGCCACAGCTTCCACTACGACCTTCCTCCTGCTCCTCATCCAAATTGTGATTCCCCCGGGGGCCTCAGGAAGGGACAGGGCTGTGGTCTACCTCCCCCAGGGAACAGAGCCATGACTGGGAGGGATGCTGCAGATGGCAACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCAAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAG
|
Task1_train_22478
|
Gene SCNN1B (sodium channel epithelial 1 subunit beta), found on Chromosome 16, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Liddle syndrome 1
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCGGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
Task1_train_22479
|
A change on Chromosome 16 affects gene SCNN1B (sodium channel epithelial 1 subunit beta). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Liddle syndrome 1
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCTGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
Task1_train_22480
|
The variant affects gene SCNN1B (sodium channel epithelial 1 subunit beta), which is on Chromosome 16. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Bronchiectasis with or without elevated sweat chloride 1
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCTGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
Task1_train_22481
|
This alteration occurs within gene SCNN1B (sodium channel epithelial 1 subunit beta) located on Chromosome 16. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
ACTTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCTGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCAT
|
Task1_train_22482
|
Consider this mutation in SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is this a benign change or a disease-causing variant?
|
Pathogenic; Liddle syndrome 1
|
TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTT
|
TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGTCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTT
|
Task1_train_22483
|
A sequence alteration has been identified in SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is it disease-inducing or harmless?
|
Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive
|
TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTT
|
TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGTCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTT
|
Task1_train_22484
|
A mutation found in SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Bronchiectasis with or without elevated sweat chloride 1
|
TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTT
|
TTTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGTCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTT
|
Task1_train_22485
|
A variant was discovered in gene SCNN1B (sodium channel epithelial 1 subunit beta), Chromosome 16. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; Liddle syndrome 1
|
TTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTG
|
TTTGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCTCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTG
|
Task1_train_22486
|
This mutation is located in gene SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Pseudohypoaldosteronism, type IB2, autosomal recessive
|
TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTT
|
TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCTCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTT
|
Task1_train_22487
|
This is a variant in SCNN1B (sodium channel epithelial 1 subunit beta), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; Bronchiectasis with or without elevated sweat chloride 1
|
TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTT
|
TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCTCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTT
|
Task1_train_22488
|
Mutation context: Chromosome 16, Gene SCNN1B (sodium channel epithelial 1 subunit beta). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
|
Pathogenic; Liddle syndrome 1
|
TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTT
|
TGCAACCACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCTCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTT
|
Task1_train_22489
|
This mutation is located in gene SCNN1B (sodium channel epithelial 1 subunit beta) on Chromosome 16. Is it associated with a disease or is it a benign polymorphism?
|
Pathogenic; Liddle syndrome 1
|
CACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACTATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTTGTTATT
|
CACCTTCTTGGGTTCCAGGACTGGATTTTCCACGTCTTGTCTCAGGAGCGGGACCAAAGCACCAATATCACCCTGAGCAGGTGAGCCTGAGCCTGGGCGGGGCTGGGGAAGACAGGGAAGGGGTCCAGAAACTCGGGGCAGGAGTTTGGACACAGGACAGCTCCTCAGACACATTCTCACATGGGTCAGACCGAGGAGCAAGTCTTGAGGAGGAGGCACTAGGAGTGAGAGAGAGGAAAGGCAGCCAAGGGGACTCTGAGTCTACCACCTGCTAAGGAGAAGCCTGTGCTTCCCTCTGTCACTGTGCATCCAACCAGCCATCCATTCATCCTCCATCATCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACACACCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCACGCAGCCAGCCATCCTCCACCCATTCATCCCTCCATCATCCACCTCTCCATTCTCCCACCCACGCACCCAGCCATCCTCCGTTTATTCATGGATCTCTCCATCCATTCAACACAAACACTAGTTGAGCACAAGAAAGACACACAGTCCAAGCTAGCAGGAGTCTAGGGGGCAAACATATGTAAAAAGGGCTCAAGGAGAGGAGGGTCTGTACAAGCCCCCTACTCTAGGAGTACAGCAGGGAAGGAGCCTCAGTCTGCCTGAGAGATAAGGGAGGTCTGCGTAGGGAGGTGGCTTTGAGTGAACTCTCCAAGGAGGAGTAAGTGCTGTTCAGATAAGAAGAGGTACCAATGTCCAGGCAGAAGACAAAGCTGGAAAGCCTGGAGGCACGAGACAGCACAGCCTGAGGACGATCAGGTGGGAGGGGATGCCCACACAGCCACCCTTCTCTGTCCCAGGTGCAGTGAAGGCGCTCAAGGCTCAGTGAAGAGCTCTGTGCGGAGTCACTCCGTATAGCCCAGGCCACCCTGATGGCACAAAGTGGGGAGCTCAGAGCAGATCTTTGGGGCTGTCCCAGGCCAGAGTGTCCTGTAGGGAACTGGTAGTCAGGGGATGGAGAAAGGGGGCCATAGGATGGGTGCTGGGCAGAGATGCCCAGAAGGGCCGGGAAGGGCTGCACTTGCAGTTCTCGTTTGGACCTCCCCACTCACGGGGGCACGCATGAGAGAAGCTCAGGACAGAGGAGGGCTGGGGCGGCCATCCCTGGCTGCCTTCCTGTGTGCATGTGTGCACGGGTGTGTGGGTACATGTGTGTGCATACATGTGGGTGTGTGCACGTGCATGTGTGTGCATGTGTCTATGTGCGTGTGTGTGTGTCTGTCTGTTTGGAAGGGGGATACATTAGTCCCGGCCCTTCTCGCTGCCTCCTGCAGGAAGGGAATTGTCAAGCTCAACATCTACTTCCAAGAATTTAACTATCGCACCATTGAAGAATCAGCAGCCAATAACGTGAGTTTAGGAGTCTCCCAATACCCCAGCCCTGCCCTGCCCTGACCCCTGCACCCTGAGGGTGGGGGAAGGGTTCTGAGCCCTATGAAGGAATTAGGAAGATCCCTAAGACAGTCCCAAGTTATTCCCCTGGGCCAAGATGGTCACCCCCTCCCGTTCCCACCCAAGAATCACCTCCCAGGAAGCTGTGAGGCTGGGCTAGAGGCAAGAATGTGTGGCCTGAGCTCACCCCAGCTCCCTGTTCCCCACAGATCGTCTGGCTGCTCTCGAATCTGGGTGGCCAGTTTGGCTTCTGGATGGGGGGCTCTGTGCTGTGCCTCATCGAGTTTGGGGAGATCATCATCGACTTTGTGTGGATCACCATCATCAAGCTGGTGGCCTTGGCCAAGAGCCTACGGCAGCGGCGAGCCCAAGCCAGCTACGCTGGCCCACCGCCCACCGTGGCCGAGCTGGTGGAGGCCCACACCAACTTTGGCTTCCAGCCTGACACGGCCCCCCGCAGCCCCAACACTGGGCCCTACCCCAGTGAGCAGGCCCTGCCCATCCCAGGCACCCCGCCCCCCAACCATGACTCCCTGCGTCTGCAGCCGCTGGACGTCATCGAGTCTGACAGTGAGGGTGATGCCATCTAACCCTGCCCCTGCCCACCCCGGGCGGCTGAAACTCACTGAGCAGCCAAGACTGTTGCCCGAGGCCTCACTGTATGGTGCCCTCTCCAAAGGGTCGGGAGGGTAGCTCTCCAGGCCAGAGCTTGTGTCCTTCAACAGAGAGGCCAGCGGCAACTGGTCCGTTACTGGCCAAGGGCTCTGTAGAATCACGGTGCTGGTACAGGATGCAGGAATAAATTGTATCTTCACCTGGTTCCTACCCTCGTCCCTACCTGTCCTGATCCTGGTCCTGAAGACCCCTCGGAACACCCTCTCCTGGTGGCAGGCCACTTCCCTCCCAGTGCCAGTCTCCATCCACCCCAGAGAGGAACAGGCGGGTGGGCCATGTGGTTTTCTCCTTCCTGGCCTTGGCTGGCCTCTGGGGCAGGGGTGGTGGAGAGATGGAAGGGCATCAGGTGTAGGGACCCTGCCAAGTGGCACCTGATTTACTCTAGAAAATAAAAGTAGAAAATACTGAGTCCAGCTGTGTTGTTTGTTTGACTGGGCAGCCGAGGTGCCCTGATGGCGGAAGGGCATCCATAGTGGCTTGAGACCCAAACTGGTTTAAGGGAAAGGCTCTCAAGCCCCTCCTTCCACTGCCAGCTCCCAGGCTGACACTCACTGATCCCTGCCTGGGTTGTGTACCCATCTCTGACCCAGTCAGTGTGGCCAGTTAGATAAGCTGCTCTGACTGGTCACACCTGAATTCATCTGCCCAGACCTGAAGCCAGTTTGGCCCCCAGGAGAATCACATGGTCCAAGGGCGGTGGGGGCACAGTACCCACGGTTGCCAGATAACAATCAGGCTGCTTGGTTGAATTTGAATTTCAGATAGACAAACTGATTTTTTTTTTTTTTGAGATGGAGTCTCACTGTCATTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGGCTCACTGTAACCTCTGCCTCCTGGGTTCAAGTGATTCTCATGCCTTGGCCTCGCGAGTAGCTGGAATTACAGGTGCATGCCACCACGCCCAGCTAATTTTCATATTTTTAATAGAGACGGGGTTTCACCATGTTGGCCGGGCTGGTCTCAAGCTCCTGGCCTCAGGCGATCCACCTGCCTCAGCCTCTCAAAGTGGTGGGATTACAGGCATGAGTCACCGACCCCAGCCGAAAAACTGATTTTTTTAGTATATGTACATCCATGCAATACTAGAGACACATACAAATAAATCATTTGTTGTTTTTTTTGAGCATTTTATACATATATATTTTTATAGAGATGGGGTGTCACTGTGTTGCCCAGGTGGGAGTGCAATGGCATGATCATAGCTCACCGTAGCCTCAAACTCCTGGGCTCAAGCCATCCTCCCACTTCAGCCTCCCAAGCAGCTGGAATTACAGGTGTGCACTACCATGCCTGGCTAATTTTTTTTAATTAAAATTTAATTTTAATTTTTTTCATTCTGTATTTTTAATTGCTAAATACCGTCCCCCAAAAGCTTAAGGTACCCAAAGAGAGATCAGGGAGCTGTCACCAGAGTACGGTCTGGCAGGTGCACACACAGCACTGCAGCACCCTGCTGTCACCTACCGGGCCCCTGGTGATGAAGGAGAGGCTGGCTTAGAGCCTGAGCCTCTGAGGGCCCAGCCTTCCTGGCCTAGGTCACCTGTGTCCCTTGGTCTGGAAGGTAAACAAGCTGGCCTCCCATCAAGTGCTCAGGATGGCACCTGTGGAAGAAGGAGGTGCCACAGAGTCGGTGCCACTTCAGTCAAAGGCAACGTTGCTAGGGGCTGAGTAGGGAGGGCTGAGTAGGAAACCGGGTTTCCCAGCTTGGGGCCTGGCTAGCTCGCAGGCTGGGCCCACAACTCTTGGTGGTTACCACCCTTACTACTTACTGTGTGATTACCGCTGTGATTACTTACTACTGTGATTACCGCTTTTATTACTAGCAGTAGTAGTTGTGGCCACAATCACTGTTACCATTTGTTGTTATT
|
Task1_train_22490
|
Chromosome 16 houses a mutation in gene COG7, LOC130058658 (component of oligomeric golgi complex 7| ATAC-STARR-seq lymphoblastoid active region 10580). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; COG7 congenital disorder of glycosylation
|
CACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATCATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGGGCACGCACCTGTAATCCCAGCTACTCAGGAGGTAGAGGCAGGAGAATAACTTGAACTCAGAAGGGGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCAGCCAGGGGGAAAGAGCGAGACTTCGTCTCAAAAAAAACAAAAAAACAAACAAAAATGGGAACATCTCTTGGACTATCCACTCCCAGTGGAAGCAGTCTGTTTGGTCTTTCCATCTGAGCCTAGGAGAGAGACTTGTGTGCAGTACGTACTGAATCAACACACAGTGAATCAACACACGGTGAATAAAAGTCAAGTTGAGGAGTTACATGAAATGGTTGCCAGTGCATGTTATTTTTTATAATTTAACTTATCCTCAACAAATGGTTTAGGCCAGGCGTGGTGGCTCACACCAGTAATCCTAGGGCTTTGGGAAGCCAAGATGGGAGGATCACTTGAGGTCAGAAATTTGAGATCAACCTGGGCAACATAGTGCGACCTTGTCTCTAAAAAAAAATTTTTTTTTTTAATTAGCCAGGCATGGTGGCACATGCCTATAGTTCCAGTTACTTGGGAGGCTGAGGCGAGCGGACTGCTTGAACCCAGAGTTTGAGGCTGCAGTGAACTATGATGGTATCACTGCATTCCAGCTTGGGCAGCAGAATGAGGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGGTTTAAGTCTCCACTGAGACCAGCCTATCTTCCTCAGCTGAAATAAAATCCACTAAAACAATGTTTTCTAGATCTGTGTCATTCTCTTATACCTATACTATAATACGTTTTTTCCAGATATATGGATCTGTTGGCTATTCTTTCATACTCTCAAAATTCACTTTTTTTTTCTTTTTACAGTTTATTGTTTGGTACAAAACAGGCTCTTTAACTCTTTGAATAAACACCTCACAGACTCGTGCTCCTAGATTACAAAAAGTCAAAGCCAATTTTCTTTGACACTGGGCTCTTGACTCTGAGATTCAAGTCACTATAACAGAAACTGGAGTTGTTTTATCTTATATTCTGGAAGGTGCCTCAACAAAGACATGTTAAGAACTGGTTAAAACTTCTAGCATTTAAAAAGATCCATCTTGTCTTCCAGTGCCTATGGATAATAATAAAAAGGGAATCCCAGAGATCTGCTATTGAATTATTTAGAGAAGAGCTACTGCAATAAGATCCACTCTTTTAAGTTCCAAAAGGAAACTTCAGGCCAGATGTGGTGGCTCACAGGTATAATCACAGTACTTTGGGAGGCCAAGACTGGAAAACCCATTATGCCCAGGAATTTGAATTTGAGACCAGCCTGGCAACACAGTGAGATCCCATCTCTACAATTTTTTTTTTAAACAGAATTTGTGGGGCGCGGTGGCTCGCGCCTGTAGTCCTAGCGACTCGAGAGGCGAGAGGATCGCTTGAGTGCAGGAGTTCGAGGCTGCAGTGAGCTATGATCGAGCCACTGTAGAGAGACCCTGTTTCAAAAGAAAAAACAAAGAGAAAGAAAGAAAAGAAAAAGGAAACTTATAGCCCAGCCAGAGGAGGAAAAACAACACCCAAAATTAGCAAGTGTTCAAGACAGCCCGGCACCCAGCTGAGACTCCCGCTGACGTGATCAGGAGTTCGGGGCTTGCTCTTTTGCCGAGGGTATTTGCTGTCCATGCGTGCCCCGCCCACCTGAGTGCCTCACGCAAGTTCGGTGACCTCTGCCCAGCCGAGAGCAGGGGAGGGTCCCGCGGCCAGGGCCCCGAGCGGCTCACCCTCCACGGCGTGGTTCACCTCTTGGATGAACAGCTGCAGCTTCATCACCAGGGTGGCTGCGTGGCCATCCGCCTTCCCGGACGCCGCCTCCTTGGAGCCGGCCCTGAAGGCCGCATTGATCCACTCCTTCACGTCGAAGTCGTCTGCCAGGAACTTGGAGAAGTCCATGGCGGAACTGCCTCAGGCCTGGCGTCCAGAACTTAAGAGTTGGCTCCGGGCGGCAACGGGGATGCAGAAGCGAGCGAGCCTGCGAGAGCACCGAGGCTAGCCTCCGAGGCGAACCCCAGAAACGCCAGGACGGGTAACTTGCCCCTTTGCGCTTCCCCGCTCAGCGCACTCAGTTTGCGGCTGGGAATGACCCTCGCCGCCCGCCGTTCTTCTTCCGGAAGTCGTTGGCCGTTACCATAGTGACTGCAGGCGTCCGGAGCGCTGAGCAGAGGTGGGTGTGGGAAAACGCCCCGGACTGAGAGCTCCCGGCACCGACAAATATCCCATGTCTGCTAACATTTGCCGAGGACTAAACTATATGCTTACTATAAAGCCCTGACATACATTAGCGCATTTACGCGGTGGCTCGCGCCTGTAATCCCAGCTCTTTAGGAAGCTGACGCGGGAGAATCGCTTGAGGCCAGGAGTTCTAGGACAGCCTGGGCAACAGTGGAGCGCAGTGGGCAGCAATGGAGTGCAATTGAACGATCTCTGCTCACTACAGCCTCAAATTCCTGGGCAATTGAACGATCTCAGCTCACTGCAGCCTCAAATTTCTGGGCTCCAGCGATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGACAACACGCCCGGCTATTTCTTTCTTTTTCTTTCTTTCTTTATTTTTTTCTGAGACGGAGTCTTGCTCTGTCGCCCAGGTTGGAGCGAAGTGACGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGAGTGTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCCACCACGCCCGGCTACTTTTTGTATTATTAGTAGAGATGGGGTTTCACCACGCTGGCCAGGCTGGCCTCAAACTCCCAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGTTGGGATCACAGGCGTGAGTCACCGCGCCTGGCCTAACTAATTATTTTCTTAATGATGTGTTTTGAGGTGCAGACCTTTTAAAGTTTGTTAAGTTCCTTATCACCTTTTTTTATGGATCATGCTTTTGGTGTTGCGGCTGAGAAATCTGTGCATAACCCATAATCACAAACAATTTCTCAGCCTGGGCAACATAGGAAGACCCCGTCTCTGCAAAAAAATTAAAAATTAGCTGAGTGTGGTGGCGCACACCTGTAGTCTCAGCTACTCGAGAGGCTGGGGTGAGAGGATTGCCTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTGTGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCGAAAAGAAAAGAAGAAAAGGTAGGGGAAGGTATGAGGGTATTCTTTAGGTTCTAAGTTTTTATGTTGTTTCAAGAGTGGGACCAACCCAAGGGGGAGGACAAGATGTCATCCTTGGAAACCCTACAGGGGACAGTTTTCCAGGTTGGCCTGCCATTGGGGTATGAGTGGCTGGCTGCCATCTCCAGGCCTGATAGTCACTCGTTTTTCATTGGCATCTCCCTTGGTTTGTCTCATTCTTCTGGGTTGAGTAGGTTTTAACTGGGGTAACCCTTCTGCTAGGAGTCCCAGTTATTTGGGGGGAGGGGAGAGGAGGGAAGGAGAGAGGAGGGGAGCAATGCAGGGAGGGGAGACGAGGGGAGCAATCTGATAGTGTAAGTCCTCTTACTTTGCTCTTGTTAAAAATTTAGGCAGGACACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATGATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTCAAACCCCATCTCTACTAATAATAAAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCAGCCACTCAGGAGGCAGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAACCGAGATCCGCCACTGCACTCCAGCCTGGGCAACAGACCGAGACTCCATCCCCCCCAAAAAAAAAAAAAATCCTGCTGGGATTT
|
CACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCAGCCTGGCCAACATCATGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGGGTGGGGCACGCACCTGTAATCCCAGCTACTCAGGAGGTAGAGGCAGGAGAATAACTTGAACTCAGAAGGGGGAGGTTGCAGTGAGCTGAGATGGCGCCACTGCACTCCAGCCAGGGGGAAAGAGCGAGACTTCGTCTCAAAAAAAACAAAAAAACAAACAAAAATGGGAACATCTCTTGGACTATCCACTCCCAGTGGAAGCAGTCTGTTTGGTCTTTCCATCTGAGCCTAGGAGAGAGACTTGTGTGCAGTACGTACTGAATCAACACACAGTGAATCAACACACGGTGAATAAAAGTCAAGTTGAGGAGTTACATGAAATGGTTGCCAGTGCATGTTATTTTTTATAATTTAACTTATCCTCAACAAATGGTTTAGGCCAGGCGTGGTGGCTCACACCAGTAATCCTAGGGCTTTGGGAAGCCAAGATGGGAGGATCACTTGAGGTCAGAAATTTGAGATCAACCTGGGCAACATAGTGCGACCTTGTCTCTAAAAAAAAATTTTTTTTTTTAATTAGCCAGGCATGGTGGCACATGCCTATAGTTCCAGTTACTTGGGAGGCTGAGGCGAGCGGACTGCTTGAACCCAGAGTTTGAGGCTGCAGTGAACTATGATGGTATCACTGCATTCCAGCTTGGGCAGCAGAATGAGGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAGGTTTAAGTCTCCACTGAGACCAGCCTATCTTCCTCAGCTGAAATAAAATCCACTAAAACAATGTTTTCTAGATCTGTGTCATTCTCTTATACCTATACTATAATACGTTTTTTCCAGATATATGGATCTGTTGGCTATTCTTTCATACTCTCAAAATTCACTTTTTTTTTCTTTTTACAGTTTATTGTTTGGTACAAAACAGGCTCTTTAACTCTTTGAATAAACACCTCACAGACTCGTGCTCCTAGATTACAAAAAGTCAAAGCCAATTTTCTTTGACACTGGGCTCTTGACTCTGAGATTCAAGTCACTATAACAGAAACTGGAGTTGTTTTATCTTATATTCTGGAAGGTGCCTCAACAAAGACATGTTAAGAACTGGTTAAAACTTCTAGCATTTAAAAAGATCCATCTTGTCTTCCAGTGCCTATGGATAATAATAAAAAGGGAATCCCAGAGATCTGCTATTGAATTATTTAGAGAAGAGCTACTGCAATAAGATCCACTCTTTTAAGTTCCAAAAGGAAACTTCAGGCCAGATGTGGTGGCTCACAGGTATAATCACAGTACTTTGGGAGGCCAAGACTGGAAAACCCATTATGCCCAGGAATTTGAATTTGAGACCAGCCTGGCAACACAGTGAGATCCCATCTCTACAATTTTTTTTTTAAACAGAATTTGTGGGGCGCGGTGGCTCGCGCCTGTAGTCCTAGCGACTCGAGAGGCGAGAGGATCGCTTGAGTGCAGGAGTTCGAGGCTGCAGTGAGCTATGATCGAGCCACTGTAGAGAGACCCTGTTTCAAAAGAAAAAACAAAGAGAAAGAAAGAAAAGAAAAAGGAAACTTATAGCCCAGCCAGAGGAGGAAAAACAACACCCAAAATTAGCAAGTGTTCAAGACAGCCCGGCACCCAGCTGAGACTCCCGCTGACGTGATCAGGAGTTCGGGGCTTGCTCTTTTGCCGAGGGTATTTGCTGTCCATGCGTGCCCCGCCCACCTGAGTGCCTCACGCAAGTTCGGTGACCTCTGCCCAGCCGAGAGCAGGGGAGGGTCCCGCGGCCAGGGCCCCGAGCGGCTCACCCTCCACGGCGTGGTTCACCTCTTGGATGAACAGCTGCAGCTTCATCACCAGGGTGGCTGCGTGGCCATCCGCCTTCCCGGACGCCGCCTCCTTGGAGCCGGCCCTGAAGGCCGCATTGATCCACTCCTTCACGTCGAAGTCGTCTGCCAGGAACTTGGAGAAGTCCACGGCGGAACTGCCTCAGGCCTGGCGTCCAGAACTTAAGAGTTGGCTCCGGGCGGCAACGGGGATGCAGAAGCGAGCGAGCCTGCGAGAGCACCGAGGCTAGCCTCCGAGGCGAACCCCAGAAACGCCAGGACGGGTAACTTGCCCCTTTGCGCTTCCCCGCTCAGCGCACTCAGTTTGCGGCTGGGAATGACCCTCGCCGCCCGCCGTTCTTCTTCCGGAAGTCGTTGGCCGTTACCATAGTGACTGCAGGCGTCCGGAGCGCTGAGCAGAGGTGGGTGTGGGAAAACGCCCCGGACTGAGAGCTCCCGGCACCGACAAATATCCCATGTCTGCTAACATTTGCCGAGGACTAAACTATATGCTTACTATAAAGCCCTGACATACATTAGCGCATTTACGCGGTGGCTCGCGCCTGTAATCCCAGCTCTTTAGGAAGCTGACGCGGGAGAATCGCTTGAGGCCAGGAGTTCTAGGACAGCCTGGGCAACAGTGGAGCGCAGTGGGCAGCAATGGAGTGCAATTGAACGATCTCTGCTCACTACAGCCTCAAATTCCTGGGCAATTGAACGATCTCAGCTCACTGCAGCCTCAAATTTCTGGGCTCCAGCGATCCTCCCACCTCAGCCTCCAGAGTAGCTGGGACTACAGGCGCGCGACAACACGCCCGGCTATTTCTTTCTTTTTCTTTCTTTCTTTATTTTTTTCTGAGACGGAGTCTTGCTCTGTCGCCCAGGTTGGAGCGAAGTGACGCGATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGAGTGTCTTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCCACCACGCCCGGCTACTTTTTGTATTATTAGTAGAGATGGGGTTTCACCACGCTGGCCAGGCTGGCCTCAAACTCCCAACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGTTGGGATCACAGGCGTGAGTCACCGCGCCTGGCCTAACTAATTATTTTCTTAATGATGTGTTTTGAGGTGCAGACCTTTTAAAGTTTGTTAAGTTCCTTATCACCTTTTTTTATGGATCATGCTTTTGGTGTTGCGGCTGAGAAATCTGTGCATAACCCATAATCACAAACAATTTCTCAGCCTGGGCAACATAGGAAGACCCCGTCTCTGCAAAAAAATTAAAAATTAGCTGAGTGTGGTGGCGCACACCTGTAGTCTCAGCTACTCGAGAGGCTGGGGTGAGAGGATTGCCTGAGCCCAGGAGGTCGAGGCTGCAGTGAGCTGTGATCACGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCGAAAAGAAAAGAAGAAAAGGTAGGGGAAGGTATGAGGGTATTCTTTAGGTTCTAAGTTTTTATGTTGTTTCAAGAGTGGGACCAACCCAAGGGGGAGGACAAGATGTCATCCTTGGAAACCCTACAGGGGACAGTTTTCCAGGTTGGCCTGCCATTGGGGTATGAGTGGCTGGCTGCCATCTCCAGGCCTGATAGTCACTCGTTTTTCATTGGCATCTCCCTTGGTTTGTCTCATTCTTCTGGGTTGAGTAGGTTTTAACTGGGGTAACCCTTCTGCTAGGAGTCCCAGTTATTTGGGGGGAGGGGAGAGGAGGGAAGGAGAGAGGAGGGGAGCAATGCAGGGAGGGGAGACGAGGGGAGCAATCTGATAGTGTAAGTCCTCTTACTTTGCTCTTGTTAAAAATTTAGGCAGGACACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATGATGAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTCAAACCCCATCTCTACTAATAATAAAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAATCCCAGCCACTCAGGAGGCAGAGGCAGGAGAATCGCTTGAACCTAGGAGGCAGAGGTTGCAGTGAACCGAGATCCGCCACTGCACTCCAGCCTGGGCAACAGACCGAGACTCCATCCCCCCCAAAAAAAAAAAAAATCCTGCTGGGATTT
|
Task1_train_22491
|
A variant on Chromosome 16 in gene EARS2, EARS2 (glutamyl-tRNA synthetase 2, mitochondrial| glutamyl-tRNA synthetase 2, mitochondrial) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
TACACACATACATACATACATTTTTCTGTAGACATGGAGTTTCACTATATTGCCCAGGTTGGTCTCAAACTCCCAGGCTTAAATGATCCTCCTGCACTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGTGCCCGCCCTCCTTCTACTTTCAAACATAAGGGAGGCTGAGTGAGCAAGCCCTGGGCCCCCCATTCCACTTTGCCCAAAGGGATTTAACTTCTAGCTATTTATATATCAAGAGCCTGAATGAGCTTTCATTTTCAGAAAGGGTTCCATCATTAAAGAAAAAAAGGTCTGAAAACAATCAGGCTAAACCCATCTCCATTACTCTCAAGACACGAGCTGCAGAACAGTACGCCCATTGCCTGGCTGTACCAGAGACTCTGAGTCAACTGGGTTTGGTTGGGGTCTGAGCATATTTTAGAAGCTTCCTAGCTGATTCCAAAGCACGATCAAGAGTTAAGAACCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAAGCGTGGTGGCGGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGACGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAGAATGGGGGACAAGAAGTTCTGTCTCAAAAAAAAAAAAAAAAAGTTAAGAACCGTAGTGCTGGGAGCTGCTTCTTGTGAGCAGCAGCTCAGTCCCATACGGTCAGCAGGCATCGTGATCAGGCATAGGCCTAAAGCGCTATATCCCTCACTAGGTGTGTGACTTTGGCAAGTTACTCAGCTTCTCTGAGCTTCACAATCCTCTTACAAACAGTGGAGATATGTATCTACCCCTTAATAGTATGTTGTGTTAAATGAAATGAGACCAGCAGGCAGGCTATTCTGGACACATTTTCAGAAATCCTTCAGGTCATCCTATTTGATGCTTGCTTCTTCAAGGTTTGGGTCTAAGTCTTGGACCATGGGTAAGTGCTCAGCTTGAAATAAACTAGATTCATCTGGCAGTAAAATGAAGAAGGAAAAAAAGAAACTAAATCCATATTAATTCTAGTCATACTGTTAGCATACATGCTTGTAATAATTGTCACAATCATAGGGTCTGTCATTTTTTGTGCTTACAGTGTGACAGGTGCTGGGCTGGGTACCTTACACTCCTGAGCTCAGTGAATCCTAACCCAATGAGGTAGACACTTATCCCCATTTTCCAGATATGCAACTGAGGCTCAGAGACTATAAGTCCCTTGAGGGCAGGGATCATGTCTATCTCACCCACTACTGTAGCCCCAGCACTTAATGTGGTGTCTGGCAAAATAAACATTTATTGAATAAAAGAATAAACTTGTCCAAGGTCACCTGGCTGGTAGGTGGCAAAGCTGGGACCAAAGAGCAGGACTGTCTGAGCCAAAGCCCTGCTCCTCCTGGCCATGCTCTCTGCTGCCAGGACTATTCAGGTGGGCACGTACCTGCAAAACCTGAGCCACAGTTGGTGATGATGTCCAACAAGGAATCGGGCAGGAAGCCATCAGCAGCAAAGTGCTCCAGGAAAACGTCCCCTTGCCTCTTGGAGAGCTTGCTGCCATCCCTGTTGAGGAGCAGGGGCAGGTGGGCGAAGTGGGGTGGCTGCCAGCCCAGGGCCTGGTAGAGGAGCAGGTGCTTGGCAGTGGAGACGAGCCACTCAGAGCCTCGCAGCACGTGGCTGATGCCCATGTGGTGGTCGTCCACCACGCAGGCCAGGTGGTATGTGGGGAAGCCGTCGCTCTTCATGATGACTGGGTCTCCCTCCACGCTGGCCACTTCATGCCTATTCCAGCCATAGACCAGGTCCTGGAAGGCTGGCACCACCTGCTCCAGGCGGAAGCGGATCGCAGGCTTGGGGTCCTTGGCCAGCTTCTGGGCCACCTGCTCCTGGCTCATGTTCCTGCACCGATTGTCATACCTGATGGGGAGCAGAGCAGCATGAGTACTGTTGATGGAAAGGTTGATGGACAGGAGTCCTACCTCTGTCATAGCTGTGTGACCTTAAGCAAGTCAGTTACTGCTGCAAGCTGCTTCCTCAGTCTATAACAGGGATGATGGTACAGTTGTGTGGAAAACTGAGATAACATGGTGTAGCAGACACTAATGTCTGCCTATCTACCAGCCATTCCACGCTTCTTCCTTGCTAACAAGAAAATAGCAAAATGCTTAGTCCGAGGGGTTGAATCCTGATTGGTATAGCCAATCTTGCAATCCTATTGCTCCATGCCAGTGACCAGTCCAGGCAGGAATGTAACCCCATCCTAGTCACTGGGATGCAAAGAAAAGCATGCCTGGGGAGTAAGAAAGGTTTAAGGTTCCGGGAAAGGTTTTTCTCTCCAAAGGACAAGAAGAGAAAGCCACAGGAGGAAAATCCCTTCTTAAAATTTCCCACTGCCCCACTTCTGTCCTCTTTGGATGTTGTCCTGTAAGGGGAGCATGCTTGGACCTGCGGCAGCTACTTGCAACTGCAGGAGGGAAGGCAATGAAGTCAGAGAGAAGCCAAAATAGAGCCCTGGTGTCTCTACACTGCTAGTCTCATCCTGGAGTCACCCACCTCCAGCCTTGTGCAGAATCAAAAGACAAATGTCTATGATTGATGCCCTGGCTACTGAAAGTGTGGTCTGTGGGCCCCTAGCATCAGCCTCTTGGGAGTCTGCCAGAAATGCAGACTCTTAGGCTCCACCCCAGACCTACTGAGTCAGAATCTGAACATTAACTAGGTCCCCAGGTGATCCATCTGTGAGTTAAAGTATCGTTTGTCCCTTCTAACAGGGTATTCCACTAACTGCACCCAAAAGCGTTCTGAGACACAGATGGAATGCTTGTAAGGTTAGTCTTTGCCACAGCTAAGTGTTCAATCAATCAATAAATGGTGCACAGGGCTGGACACAGTTGCTCACGTCTGTAATCCCAGTGTTTTGGGAGGTCAAGGTAGAAGGACAGCCTGACCTCAAGGGTTCAAGACCAGCGTGGGTAACATAGCAAAATCCTGTCTCTTATTTAAAAATTTAAAATACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAACAAAACAAAACAAAATCAGCCAGGTGTGGTGGTGCATTCCTGTAGTCCCAGCTCTGTGGGAGGCCAAGGTGGAAGAATCACTGGAGCCCAGGAGGTTGAGGCTGCAGTAAACTATGATGGCACCACTGCACTCTAGCCTGGGTGACACAGCGAGACCCTGTCTCAAAAAAAAAACTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGTCGTGACCTTGACTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCCTGCCACCACAACCGGCTAATTTTTATATTTTTAGTAGAAATGGGGTTTCACCACGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCGTGATCTACCCGCCTCGGCCTCCCATAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAAAAAAGAAATTTTTACAAATGAGTCAGTTGCACATGAGTGAACAGGAGGGTGTTCAGCTGCAGAAGCAGGGCAGCATTATGTCTGAATCAAAGGAACTTGTTTCTTCAAGCTCTTCTGGCAGGAATTCTGACAGTGAGTTTGACAAAAAGTTAAAGAAGAAAAAGTAAGTTGCTCCAGAAAAACTTGTAAAGGAACAAAAGACTGGCAAAACTTTGGGAGCTCTGTCATCTTCCAAACAGAGCAGCGGCAGTAAACATAATAACATGTTTATTTTCTTTTTTAAATTTCATATAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTAGTCTCAAGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGTGATTAGATTACAGGCCACTGTACTCAGCTG
|
TACACACATACATACATACATTTTTCTGTAGACATGGAGTTTCACTATATTGCCCAGGTTGGTCTCAAACTCCCAGGCTTAAATGATCCTCCTGCACTGGCCTCCCAAAGTGCTGGGATTACAGACATGAGCCACTGTGCCCGCCCTCCTTCTACTTTCAAACATAAGGGAGGCTGAGTGAGCAAGCCCTGGGCCCCCCATTCCACTTTGCCCAAAGGGATTTAACTTCTAGCTATTTATATATCAAGAGCCTGAATGAGCTTTCATTTTCAGAAAGGGTTCCATCATTAAAGAAAAAAAGGTCTGAAAACAATCAGGCTAAACCCATCTCCATTACTCTCAAGACACGAGCTGCAGAACAGTACGCCCATTGCCTGGCTGTACCAGAGACTCTGAGTCAACTGGGTTTGGTTGGGGTCTGAGCATATTTTAGAAGCTTCCTAGCTGATTCCAAAGCACGATCAAGAGTTAAGAACCAGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAAGCGTGGTGGCGGGTGCCTGTAATCCCAGGTACTCGGGAGGCTGAGGCAGGACAATCGCTTGAACCCAGGAGACGGAGGTTGCGGTGAGCCGAGATCGCGCCATTGCACTCCAGAATGGGGGACAAGAAGTTCTGTCTCAAAAAAAAAAAAAAAAAGTTAAGAACCGTAGTGCTGGGAGCTGCTTCTTGTGAGCAGCAGCTCAGTCCCATACGGTCAGCAGGCATCGTGATCAGGCATAGGCCTAAAGCGCTATATCCCTCACTAGGTGTGTGACTTTGGCAAGTTACTCAGCTTCTCTGAGCTTCACAATCCTCTTACAAACAGTGGAGATATGTATCTACCCCTTAATAGTATGTTGTGTTAAATGAAATGAGACCAGCAGGCAGGCTATTCTGGACACATTTTCAGAAATCCTTCAGGTCATCCTATTTGATGCTTGCTTCTTCAAGGTTTGGGTCTAAGTCTTGGACCATGGGTAAGTGCTCAGCTTGAAATAAACTAGATTCATCTGGCAGTAAAATGAAGAAGGAAAAAAAGAAACTAAATCCATATTAATTCTAGTCATACTGTTAGCATACATGCTTGTAATAATTGTCACAATCATAGGGTCTGTCATTTTTTGTGCTTACAGTGTGACAGGTGCTGGGCTGGGTACCTTACACTCCTGAGCTCAGTGAATCCTAACCCAATGAGGTAGACACTTATCCCCATTTTCCAGATATGCAACTGAGGCTCAGAGACTATAAGTCCCTTGAGGGCAGGGATCATGTCTATCTCACCCACTACTGTAGCCCCAGCACTTAATGTGGTGTCTGGCAAAATAAACATTTATTGAATAAAAGAATAAACTTGTCCAAGGTCACCTGGCTGGTAGGTGGCAAAGCTGGGACCAAAGAGCAGGACTGTCTGAGCCAAAGCCCTGCTCCTCCTGGCCATGCTCTCTGCTGCCAGGACTATTCAGGTGGGCACGTACCTGCAAAACCTGAGCCACAGTTGGTGATGATGTCCAACAAGGAATCGGGCAGGAAGCCATCAGCAGCAAAGTGCTCCAGGAAAACGTCCCCTTGCCTCTTGGAGAGCTTGCTGCCATCCCTGTTGAGGAGCAGGGGCAGGTGGGCGAAGTGGGGTGGCTGCCAGCCCAGGGCCTGGTAGAGGAGCAGGTGCTTGGCAGTGGAGACGAGCCACTCAGAGCCTCGCAGCACGTGGCTGATGCCCATGTGGTGGTCGTCCACCACGCAGGCCAGGTGGTATGTGGGGAAGCCGTCGCTCTTCATGATGACTGGGTCTCCCTCCACGCTGGCCACTTCATGCCTATTCCAGCCATAGACCAGGTCCTGGAAGGCTGGCACCACCTGCTCCAGGCGGAAGCGGATCGCAGGCTTGGGGTCCTTGGCCAGCTTCTGGGCCACCTGCTCCTGGCTCATGTTCCCGCACCGATTGTCATACCTGATGGGGAGCAGAGCAGCATGAGTACTGTTGATGGAAAGGTTGATGGACAGGAGTCCTACCTCTGTCATAGCTGTGTGACCTTAAGCAAGTCAGTTACTGCTGCAAGCTGCTTCCTCAGTCTATAACAGGGATGATGGTACAGTTGTGTGGAAAACTGAGATAACATGGTGTAGCAGACACTAATGTCTGCCTATCTACCAGCCATTCCACGCTTCTTCCTTGCTAACAAGAAAATAGCAAAATGCTTAGTCCGAGGGGTTGAATCCTGATTGGTATAGCCAATCTTGCAATCCTATTGCTCCATGCCAGTGACCAGTCCAGGCAGGAATGTAACCCCATCCTAGTCACTGGGATGCAAAGAAAAGCATGCCTGGGGAGTAAGAAAGGTTTAAGGTTCCGGGAAAGGTTTTTCTCTCCAAAGGACAAGAAGAGAAAGCCACAGGAGGAAAATCCCTTCTTAAAATTTCCCACTGCCCCACTTCTGTCCTCTTTGGATGTTGTCCTGTAAGGGGAGCATGCTTGGACCTGCGGCAGCTACTTGCAACTGCAGGAGGGAAGGCAATGAAGTCAGAGAGAAGCCAAAATAGAGCCCTGGTGTCTCTACACTGCTAGTCTCATCCTGGAGTCACCCACCTCCAGCCTTGTGCAGAATCAAAAGACAAATGTCTATGATTGATGCCCTGGCTACTGAAAGTGTGGTCTGTGGGCCCCTAGCATCAGCCTCTTGGGAGTCTGCCAGAAATGCAGACTCTTAGGCTCCACCCCAGACCTACTGAGTCAGAATCTGAACATTAACTAGGTCCCCAGGTGATCCATCTGTGAGTTAAAGTATCGTTTGTCCCTTCTAACAGGGTATTCCACTAACTGCACCCAAAAGCGTTCTGAGACACAGATGGAATGCTTGTAAGGTTAGTCTTTGCCACAGCTAAGTGTTCAATCAATCAATAAATGGTGCACAGGGCTGGACACAGTTGCTCACGTCTGTAATCCCAGTGTTTTGGGAGGTCAAGGTAGAAGGACAGCCTGACCTCAAGGGTTCAAGACCAGCGTGGGTAACATAGCAAAATCCTGTCTCTTATTTAAAAATTTAAAATACCAGCCTGGGCAACATAGTGAGACTCTGTCTCTACAAAACAAAACAAAACAAAATCAGCCAGGTGTGGTGGTGCATTCCTGTAGTCCCAGCTCTGTGGGAGGCCAAGGTGGAAGAATCACTGGAGCCCAGGAGGTTGAGGCTGCAGTAAACTATGATGGCACCACTGCACTCTAGCCTGGGTGACACAGCGAGACCCTGTCTCAAAAAAAAAACTTTTTTTTTCTTTTTTTTTTTTTTTTTTGAGATAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGTCGTGACCTTGACTCACTGCAACCTCCACCTCCAGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGCCTGCCACCACAACCGGCTAATTTTTATATTTTTAGTAGAAATGGGGTTTCACCACGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCGTGATCTACCCGCCTCGGCCTCCCATAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCAAAAAAGAAATTTTTACAAATGAGTCAGTTGCACATGAGTGAACAGGAGGGTGTTCAGCTGCAGAAGCAGGGCAGCATTATGTCTGAATCAAAGGAACTTGTTTCTTCAAGCTCTTCTGGCAGGAATTCTGACAGTGAGTTTGACAAAAAGTTAAAGAAGAAAAAGTAAGTTGCTCCAGAAAAACTTGTAAAGGAACAAAAGACTGGCAAAACTTTGGGAGCTCTGTCATCTTCCAAACAGAGCAGCGGCAGTAAACATAATAACATGTTTATTTTCTTTTTTAAATTTCATATAGAGATGGGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCCTAGTCTCAAGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGTGATTAGATTACAGGCCACTGTACTCAGCTG
|
Task1_train_22492
|
A mutation on Chromosome 16 affecting EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
AGCACTTTGGGAGGCCGAGGCAGGAGAATTAACTTGAGGTCAGGGGTTCAACAGCAGCCTGGGCAACATAGCAAGACCCTACCTCTACAAAAACATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATGCACCAGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAACCATTTTATACTCTTTAGGAATCCAGAGTTTAGTGAGTAATTTACCTGAGATTAGAACACACATCTCAAAATAGTCTTGGGGTTTTTCTTTCTTTTTTTTTCAATCTCTAGACTAGCAGAGTCTTGGTATTTTTCCTTGGGAATCTCCCCTTTCCTAGTCACACCCGTCCATACAGGTAGACAACTGTCGACCCATGAAAAGGAAACACACTCCTCTTTGTTCTCCCTGACCTTAGCTGTCCTCAGGATAAAACTTCCCACAAGATCAACTTCAGAAGCTGTACGTGTTTTGTGTGGCTTATACAACATGGTTAAAAAAAATCTGAGCCCAGATTTAATAATGGTTAAGTATTCATCCAGAAAAACTGGATTTCTGGCTCCTCTTGCAACTCAGAGGATTGGACAAGCTGGGCCAGCATTCCCGCATGGGCACAAGGAGCTGGAGCTCAGAGGCACTCCCAACTCTGGATGAGGTGTGGTTTTCACAGCTCAGCACTGGCCCAGCTCCTCCAGTTCCCACTTGGCCCTGTGTTTCCTGCCTGGCCCCTGTAGGGAATGAACTTGAGATTCTGAGGTGAAAACAGGAATCTCAAAACAGCCTTGGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGTAGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGAATAGCTTGGGCAACACAGTGAGATCTCATCTCTACAAAAAAATTAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAACTACTTGGGAGGCTAAGGTGGAGGATCACTTGAGCCCAGGTCGAGGCTACAGTAAGTTATGATTGTGCCATGGAACTCTAGCCTGGGTAACAAAATGAGACCCTGACTCTAAAAAATTAAAAAATAAAGAAACCAAGTTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGTCGAGGCAGGTGGATCACGAGGTCAGGAGGTCAAGATCATCCTTGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTTGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAACAATAAATAAATAAAAATAAAGAAACCAGTCTTGGAGCTGTGTTTCAGAGAGCTTCGGCATTTTTTCAGGTGTCATCTGCCACCCCGGGCAGGGCAGTACAAATGTAGCCACTTCTCCAGGAACTCCCCATTTTCCACTCAGAACTCCATGAGAAGACCCACAGGCTCCTTTTCCTGCTTCCTGTTCCTTCCCTGCAGAAAGATCCTTTCTCTGCCAGGCTTACCTGCCCACTCCAGCATGTCCTCAATATTCTCCGCTGCCCCAGGCACAACGCGAGTCTGATCTGTGTCCTCTAGCCTCAGGATGAAGCTCCCCTGGTACTTCTTAGCAAAGATGTAGTTGTACAAGGCAGTGCGGAGGCCACCCAGGTGCAAGAAGCCTGGAGAAGAGAACAGCTCAGATAAGACAGGGAAGATAAGCTAATAGGCCTCAGCAAGGGGCAAGTAAGCACTACTGTGACAGAATGTTGCAATAAATTTAAAAGACCAGCAGGACACATTGGCTCACGCCTGTAATCCTACCACTTTGGGAGGCCAAGGCCGGGGGGATCACTTGAGCCCAGGAGGTTCCTGTAGGTTTTTTAAGACAAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCTGCCTCTTGTGTTTAAGCAATTCTCATGCCCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCACGTCCAGCTACATGTTTGTATTTTTGGTAGAGACAGGCATTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCCCCCAGCCTCGGCCTCCCAAGTGCTGGGATCACAGGCAAGAGCCATCACACCTGGCCAATTTTTGTATTTTTAGTAAAGATAGGATTTTGCCATGGTGGTCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCATCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAAGCGTGAGCCATTGTGCTTGGCCTGAGTTTGAGATCTGCCTGGGCAACATGGTGAGACCTTGTCTTAGCAAAAAATATAAAAATTTAGCTGGGCATGGTGGTACATGCCTGTGGTTTCAGTTACTGAGGTGGGAGGATCACCTGAGCCTGGGGACGCTGAGGCTGCAGCGAGCCATGATCACGCCTCTGCACTCCAGCCTGGGCAGCAGTAGAGTGAGACTCTGTCTCAAACAAAAAAAATTAAAAATTAAAAAATTTTTTTTCAAAGACTAAGAACTAGTTACCCCTGTGCCCTGTCTCCAGACACATTTAATCCCTCATCCTGAAAATGGAAACCACCCAGGATTTGGAGCATGTCATTTTATTAAAAGGCTCCAATTTTCCCCAACTGCATCCACCACTCTATTTTGATATTTGTCTCAAGGCCAAGTTTCGCCTGAAAGAGAAGCAGAGAGTTATTCATTGAGGCCATATCATGTACATTTAACTTACAGAAATTCAATGATGTGCGCTGGGAAAAAAATTAATTACAAACAAACTAGAAATTTAAAATACTGTACAATCATATTGTGGGCCAGGTGCAGTAGCTCACACCTCTAATCCCAGCACTTTTGGAGGCAGAGGCACGAGGATCACCTGGGTCTCTAAATTTGAGACCAGCCTGGGCAACATTGTGAGATCCTGTCTCTACAAAGAAAAAAAAAATCGGTGGGGCATGGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAAGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACCACAAAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAACTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCATCTCCAAAAAAAAAAAAAAAATCACATTTTGCATATGCAGTCTATGCAGTGTGCATGACTGTCCACGTCGTACATTTTAAATTTCATCTACTTGAGATTTTTACTTTTTTAAAGAAACAAAATTCATTTTTGAAATTTGAGATGGGGTCTCACTCTTGCCCAGGCTGAAGTCCAGTGGTACAGTCACGGCTCACTGCAGCCTCAACCACCCAGGCTCAATCAATCCTCCCACGTCAGCCTCCCAAGTAGCTGGAACTACAAGTGTACACCACCATGCCCGGCTAATATTTGTTTTTTGGTTTTTTTTTTGCAGA
|
AGCACTTTGGGAGGCCGAGGCAGGAGAATTAACTTGAGGTCAGGGGTTCAACAGCAGCCTGGGCAACATAGCAAGACCCTACCTCTACAAAAACATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATGCACCAGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAACCATTTTATACTCTTTAGGAATCCAGAGTTTAGTGAGTAATTTACCTGAGATTAGAACACACATCTCAAAATAGTCTTGGGGTTTTTCTTTCTTTTTTTTTCAATCTCTAGACTAGCAGAGTCTTGGTATTTTTCCTTGGGAATCTCCCCTTTCCTAGTCACACCCGTCCATACAGGTAGACAACTGTCGACCCATGAAAAGGAAACACACTCCTCTTTGTTCTCCCTGACCTTAGCTGTCCTCAGGATAAAACTTCCCACAAGATCAACTTCAGAAGCTGTACGTGTTTTGTGTGGCTTATACAACATGGTTAAAAAAAATCTGAGCCCAGATTTAATAATGGTTAAGTATTCATCCAGAAAAACTGGATTTCTGGCTCCTCTTGCAACTCAGAGGATTGGACAAGCTGGGCCAGCATTCCCGCATGGGCACAAGGAGCTGGAGCTCAGAGGCACTCCCAACTCTGGATGAGGTGTGGTTTTCACAGCTCAGCACTGGCCCAGCTCCTCCAGTTCCCACTTGGCCCTGTGTTTCCTGCCTGGCCCCTGTAGGGAATGAACTTGAGATTCTGAGGTGAAAACAGGAATCTCAAAACAGCCTTGGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGTAGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGAATAGCTTGGGCAACACAGTGAGATCTCATCTCTACAAAAAAATTAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAACTACTTGGGAGGCTAAGGTGGAGGATCACTTGAGCCCAGGTCGAGGCTACAGTAAGTTATGATTGTGCCATGGAACTCTAGCCTGGGTAACAAAATGAGACCCTGACTCTAAAAAATTAAAAAATAAAGAAACCAAGTTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGTCGAGGCAGGTGGATCACGAGGTCAGGAGGTCAAGATCATCCTTGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTTGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAACAATAAATAAATAAAAATAAAGAAACCAGTCTTGGAGCTGTGTTTCAGAGAGCTTCGGCATTTTTTCAGGTGTCATCTGCCACCCCGGGCAGGGCAGTACAAATGTAGCCACTTCTCCAGGAACTCCCCATTTTCCACTCAGAACTCCATGAGAAGACCCACAGGCTCCTTTTCCTGCTTCCTGTTCCTTCCCTGCAGAAAGATCCTTTCTCTGCCAGGCTTACCTGCCCACTTCAGCATGTCCTCAATATTCTCCGCTGCCCCAGGCACAACGCGAGTCTGATCTGTGTCCTCTAGCCTCAGGATGAAGCTCCCCTGGTACTTCTTAGCAAAGATGTAGTTGTACAAGGCAGTGCGGAGGCCACCCAGGTGCAAGAAGCCTGGAGAAGAGAACAGCTCAGATAAGACAGGGAAGATAAGCTAATAGGCCTCAGCAAGGGGCAAGTAAGCACTACTGTGACAGAATGTTGCAATAAATTTAAAAGACCAGCAGGACACATTGGCTCACGCCTGTAATCCTACCACTTTGGGAGGCCAAGGCCGGGGGGATCACTTGAGCCCAGGAGGTTCCTGTAGGTTTTTTAAGACAAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCTGCCTCTTGTGTTTAAGCAATTCTCATGCCCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCACGTCCAGCTACATGTTTGTATTTTTGGTAGAGACAGGCATTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCCCCCAGCCTCGGCCTCCCAAGTGCTGGGATCACAGGCAAGAGCCATCACACCTGGCCAATTTTTGTATTTTTAGTAAAGATAGGATTTTGCCATGGTGGTCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCATCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAAGCGTGAGCCATTGTGCTTGGCCTGAGTTTGAGATCTGCCTGGGCAACATGGTGAGACCTTGTCTTAGCAAAAAATATAAAAATTTAGCTGGGCATGGTGGTACATGCCTGTGGTTTCAGTTACTGAGGTGGGAGGATCACCTGAGCCTGGGGACGCTGAGGCTGCAGCGAGCCATGATCACGCCTCTGCACTCCAGCCTGGGCAGCAGTAGAGTGAGACTCTGTCTCAAACAAAAAAAATTAAAAATTAAAAAATTTTTTTTCAAAGACTAAGAACTAGTTACCCCTGTGCCCTGTCTCCAGACACATTTAATCCCTCATCCTGAAAATGGAAACCACCCAGGATTTGGAGCATGTCATTTTATTAAAAGGCTCCAATTTTCCCCAACTGCATCCACCACTCTATTTTGATATTTGTCTCAAGGCCAAGTTTCGCCTGAAAGAGAAGCAGAGAGTTATTCATTGAGGCCATATCATGTACATTTAACTTACAGAAATTCAATGATGTGCGCTGGGAAAAAAATTAATTACAAACAAACTAGAAATTTAAAATACTGTACAATCATATTGTGGGCCAGGTGCAGTAGCTCACACCTCTAATCCCAGCACTTTTGGAGGCAGAGGCACGAGGATCACCTGGGTCTCTAAATTTGAGACCAGCCTGGGCAACATTGTGAGATCCTGTCTCTACAAAGAAAAAAAAAATCGGTGGGGCATGGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAAGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACCACAAAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAACTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCATCTCCAAAAAAAAAAAAAAAATCACATTTTGCATATGCAGTCTATGCAGTGTGCATGACTGTCCACGTCGTACATTTTAAATTTCATCTACTTGAGATTTTTACTTTTTTAAAGAAACAAAATTCATTTTTGAAATTTGAGATGGGGTCTCACTCTTGCCCAGGCTGAAGTCCAGTGGTACAGTCACGGCTCACTGCAGCCTCAACCACCCAGGCTCAATCAATCCTCCCACGTCAGCCTCCCAAGTAGCTGGAACTACAAGTGTACACCACCATGCCCGGCTAATATTTGTTTTTTGGTTTTTTTTTTGCAGA
|
Task1_train_22493
|
A mutation on Chromosome 16 affecting EARS2 (glutamyl-tRNA synthetase 2, mitochondrial) has been found. Is it harmful or harmless? What disease, if any, does it cause?
|
Pathogenic; Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
CATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATGCACCAGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAACCATTTTATACTCTTTAGGAATCCAGAGTTTAGTGAGTAATTTACCTGAGATTAGAACACACATCTCAAAATAGTCTTGGGGTTTTTCTTTCTTTTTTTTTCAATCTCTAGACTAGCAGAGTCTTGGTATTTTTCCTTGGGAATCTCCCCTTTCCTAGTCACACCCGTCCATACAGGTAGACAACTGTCGACCCATGAAAAGGAAACACACTCCTCTTTGTTCTCCCTGACCTTAGCTGTCCTCAGGATAAAACTTCCCACAAGATCAACTTCAGAAGCTGTACGTGTTTTGTGTGGCTTATACAACATGGTTAAAAAAAATCTGAGCCCAGATTTAATAATGGTTAAGTATTCATCCAGAAAAACTGGATTTCTGGCTCCTCTTGCAACTCAGAGGATTGGACAAGCTGGGCCAGCATTCCCGCATGGGCACAAGGAGCTGGAGCTCAGAGGCACTCCCAACTCTGGATGAGGTGTGGTTTTCACAGCTCAGCACTGGCCCAGCTCCTCCAGTTCCCACTTGGCCCTGTGTTTCCTGCCTGGCCCCTGTAGGGAATGAACTTGAGATTCTGAGGTGAAAACAGGAATCTCAAAACAGCCTTGGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGTAGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGAATAGCTTGGGCAACACAGTGAGATCTCATCTCTACAAAAAAATTAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAACTACTTGGGAGGCTAAGGTGGAGGATCACTTGAGCCCAGGTCGAGGCTACAGTAAGTTATGATTGTGCCATGGAACTCTAGCCTGGGTAACAAAATGAGACCCTGACTCTAAAAAATTAAAAAATAAAGAAACCAAGTTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGTCGAGGCAGGTGGATCACGAGGTCAGGAGGTCAAGATCATCCTTGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTTGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAACAATAAATAAATAAAAATAAAGAAACCAGTCTTGGAGCTGTGTTTCAGAGAGCTTCGGCATTTTTTCAGGTGTCATCTGCCACCCCGGGCAGGGCAGTACAAATGTAGCCACTTCTCCAGGAACTCCCCATTTTCCACTCAGAACTCCATGAGAAGACCCACAGGCTCCTTTTCCTGCTTCCTGTTCCTTCCCTGCAGAAAGATCCTTTCTCTGCCAGGCTTACCTGCCCACTCCAGCATGTCCTCAATATTCTCCGCTGCCCCAGGCACAACGCGAGTCTGATCTGTGTCCTCTAGCCTCAGGATGAAGCTCCCCTGGTACTTCTTAGCAAAGATGTAGTTGTACAAGGCAGTGCGGAGGCCACCCAGGTGCAAGAAGCCTGGAGAAGAGAACAGCTCAGATAAGACAGGGAAGATAAGCTAATAGGCCTCAGCAAGGGGCAAGTAAGCACTACTGTGACAGAATGTTGCAATAAATTTAAAAGACCAGCAGGACACATTGGCTCACGCCTGTAATCCTACCACTTTGGGAGGCCAAGGCCGGGGGGATCACTTGAGCCCAGGAGGTTCCTGTAGGTTTTTTAAGACAAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCTGCCTCTTGTGTTTAAGCAATTCTCATGCCCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCACGTCCAGCTACATGTTTGTATTTTTGGTAGAGACAGGCATTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCCCCCAGCCTCGGCCTCCCAAGTGCTGGGATCACAGGCAAGAGCCATCACACCTGGCCAATTTTTGTATTTTTAGTAAAGATAGGATTTTGCCATGGTGGTCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCATCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAAGCGTGAGCCATTGTGCTTGGCCTGAGTTTGAGATCTGCCTGGGCAACATGGTGAGACCTTGTCTTAGCAAAAAATATAAAAATTTAGCTGGGCATGGTGGTACATGCCTGTGGTTTCAGTTACTGAGGTGGGAGGATCACCTGAGCCTGGGGACGCTGAGGCTGCAGCGAGCCATGATCACGCCTCTGCACTCCAGCCTGGGCAGCAGTAGAGTGAGACTCTGTCTCAAACAAAAAAAATTAAAAATTAAAAAATTTTTTTTCAAAGACTAAGAACTAGTTACCCCTGTGCCCTGTCTCCAGACACATTTAATCCCTCATCCTGAAAATGGAAACCACCCAGGATTTGGAGCATGTCATTTTATTAAAAGGCTCCAATTTTCCCCAACTGCATCCACCACTCTATTTTGATATTTGTCTCAAGGCCAAGTTTCGCCTGAAAGAGAAGCAGAGAGTTATTCATTGAGGCCATATCATGTACATTTAACTTACAGAAATTCAATGATGTGCGCTGGGAAAAAAATTAATTACAAACAAACTAGAAATTTAAAATACTGTACAATCATATTGTGGGCCAGGTGCAGTAGCTCACACCTCTAATCCCAGCACTTTTGGAGGCAGAGGCACGAGGATCACCTGGGTCTCTAAATTTGAGACCAGCCTGGGCAACATTGTGAGATCCTGTCTCTACAAAGAAAAAAAAAATCGGTGGGGCATGGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAAGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACCACAAAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAACTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCATCTCCAAAAAAAAAAAAAAAATCACATTTTGCATATGCAGTCTATGCAGTGTGCATGACTGTCCACGTCGTACATTTTAAATTTCATCTACTTGAGATTTTTACTTTTTTAAAGAAACAAAATTCATTTTTGAAATTTGAGATGGGGTCTCACTCTTGCCCAGGCTGAAGTCCAGTGGTACAGTCACGGCTCACTGCAGCCTCAACCACCCAGGCTCAATCAATCCTCCCACGTCAGCCTCCCAAGTAGCTGGAACTACAAGTGTACACCACCATGCCCGGCTAATATTTGTTTTTTGGTTTTTTTTTTGCAGAGGCAAGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTTACACTTCAGCCTCCCAAAGTGCTGGGATTACTGG
|
CATAAGTTAATAAAATTAGCTGGGCATGGTGGCACACAGCTATGGTGCCAGCTACCCAGGAGGCTAAGGTGAGAGGATCCCTTGAGCTCAGGAATTTGAGATTACAGTGAGCTGTGTTTGAACCACTGCGCTCTAGCCTGGGCAACAGAGCAAGATTTTGTTTGTTAAAAAAAAAAAAAAAGAAATAATTAATCCACTCATCTGTCTTTTCCCTTGGCACTAAGCACATGGTCTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGATGCAATCTCGGCTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCACCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTATGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATGCACCAGCCTCGGCCTCCCAAAGTTTTGGGATTACAGGCGTGAGCCACCACGCCCGGCCAACCATTTTATACTCTTTAGGAATCCAGAGTTTAGTGAGTAATTTACCTGAGATTAGAACACACATCTCAAAATAGTCTTGGGGTTTTTCTTTCTTTTTTTTTCAATCTCTAGACTAGCAGAGTCTTGGTATTTTTCCTTGGGAATCTCCCCTTTCCTAGTCACACCCGTCCATACAGGTAGACAACTGTCGACCCATGAAAAGGAAACACACTCCTCTTTGTTCTCCCTGACCTTAGCTGTCCTCAGGATAAAACTTCCCACAAGATCAACTTCAGAAGCTGTACGTGTTTTGTGTGGCTTATACAACATGGTTAAAAAAAATCTGAGCCCAGATTTAATAATGGTTAAGTATTCATCCAGAAAAACTGGATTTCTGGCTCCTCTTGCAACTCAGAGGATTGGACAAGCTGGGCCAGCATTCCCGCATGGGCACAAGGAGCTGGAGCTCAGAGGCACTCCCAACTCTGGATGAGGTGTGGTTTTCACAGCTCAGCACTGGCCCAGCTCCTCCAGTTCCCACTTGGCCCTGTGTTTCCTGCCTGGCCCCTGTAGGGAATGAACTTGAGATTCTGAGGTGAAAACAGGAATCTCAAAACAGCCTTGGCAGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGCTGTAGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGAATAGCTTGGGCAACACAGTGAGATCTCATCTCTACAAAAAAATTAAAAATTAGCCAGGCGTGGTGGTGCGTGCCTGTAGTCCCAACTACTTGGGAGGCTAAGGTGGAGGATCACTTGAGCCCAGGTCGAGGCTACAGTAAGTTATGATTGTGCCATGGAACTCTAGCCTGGGTAACAAAATGAGACCCTGACTCTAAAAAATTAAAAAATAAAGAAACCAAGTTGGGCGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGTCGAGGCAGGTGGATCACGAGGTCAGGAGGTCAAGATCATCCTTGCTAACACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTTCCAGCTACTTGGAGGCTGAGGCAGAAGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAACAATAAATAAATAAAAATAAAGAAACCAGTCTTGGAGCTGTGTTTCAGAGAGCTTCGGCATTTTTTCAGGTGTCATCTGCCACCCCGGGCAGGGCAGTACAAATGTAGCCACTTCTCCAGGAACTCCCCATTTTCCACTCAGAACTCCATGAGAAGACCCACAGGCTCCTTTTCCTGCTTCCTGTTCCTTCCCTGCAGAAAGATCCTTTCTCTGCCAGGCTTACCTGCCCACTCCAGCATGTCCTCAATATTCTCCGCTGCCCCAGGCACAACGCGAGTCTGATCTGTGTCCTCTAGCCTCAGGATGAAGCTCCCCTGGTACTTCTCAGCAAAGATGTAGTTGTACAAGGCAGTGCGGAGGCCACCCAGGTGCAAGAAGCCTGGAGAAGAGAACAGCTCAGATAAGACAGGGAAGATAAGCTAATAGGCCTCAGCAAGGGGCAAGTAAGCACTACTGTGACAGAATGTTGCAATAAATTTAAAAGACCAGCAGGACACATTGGCTCACGCCTGTAATCCTACCACTTTGGGAGGCCAAGGCCGGGGGGATCACTTGAGCCCAGGAGGTTCCTGTAGGTTTTTTAAGACAAGAGTCTCACTCTGTCACCCAAGCTGGAGTGCAGTGGCACAGTCTTGGCTCACTGCAACCTCTGCCTCTTGTGTTTAAGCAATTCTCATGCCCAGCCTCCCGAGTAGCTGGGATTACAGGTGTGTGCCACCACGTCCAGCTACATGTTTGTATTTTTGGTAGAGACAGGCATTCGCCATGTTGGCAAGGCTGGTCTTGAACTCCTGGCCTCAAGTGATCCCCCCAGCCTCGGCCTCCCAAGTGCTGGGATCACAGGCAAGAGCCATCACACCTGGCCAATTTTTGTATTTTTAGTAAAGATAGGATTTTGCCATGGTGGTCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCCATCTGCCTTGGCTTCCCAAAGTGCTGGGATTACAAGCGTGAGCCATTGTGCTTGGCCTGAGTTTGAGATCTGCCTGGGCAACATGGTGAGACCTTGTCTTAGCAAAAAATATAAAAATTTAGCTGGGCATGGTGGTACATGCCTGTGGTTTCAGTTACTGAGGTGGGAGGATCACCTGAGCCTGGGGACGCTGAGGCTGCAGCGAGCCATGATCACGCCTCTGCACTCCAGCCTGGGCAGCAGTAGAGTGAGACTCTGTCTCAAACAAAAAAAATTAAAAATTAAAAAATTTTTTTTCAAAGACTAAGAACTAGTTACCCCTGTGCCCTGTCTCCAGACACATTTAATCCCTCATCCTGAAAATGGAAACCACCCAGGATTTGGAGCATGTCATTTTATTAAAAGGCTCCAATTTTCCCCAACTGCATCCACCACTCTATTTTGATATTTGTCTCAAGGCCAAGTTTCGCCTGAAAGAGAAGCAGAGAGTTATTCATTGAGGCCATATCATGTACATTTAACTTACAGAAATTCAATGATGTGCGCTGGGAAAAAAATTAATTACAAACAAACTAGAAATTTAAAATACTGTACAATCATATTGTGGGCCAGGTGCAGTAGCTCACACCTCTAATCCCAGCACTTTTGGAGGCAGAGGCACGAGGATCACCTGGGTCTCTAAATTTGAGACCAGCCTGGGCAACATTGTGAGATCCTGTCTCTACAAAGAAAAAAAAAATCGGTGGGGCATGGTGGCTCACACCTTTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACAAAGTCAGGAGTTTGAGGCCAGCCTGGCCAACATGTTGAAACCCCGTCTCTACTAAAAATACCACAAAAAAAATTAGCTGGGCATGGTGGTGGGCGCCTGTAATCCCAGCTACTTGGGAGGTTGAGGCAGGAGAACTGCTTGAACCCAGGAGACAGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCGACAGGGCGAGACTCCATCTCCAAAAAAAAAAAAAAAATCACATTTTGCATATGCAGTCTATGCAGTGTGCATGACTGTCCACGTCGTACATTTTAAATTTCATCTACTTGAGATTTTTACTTTTTTAAAGAAACAAAATTCATTTTTGAAATTTGAGATGGGGTCTCACTCTTGCCCAGGCTGAAGTCCAGTGGTACAGTCACGGCTCACTGCAGCCTCAACCACCCAGGCTCAATCAATCCTCCCACGTCAGCCTCCCAAGTAGCTGGAACTACAAGTGTACACCACCATGCCCGGCTAATATTTGTTTTTTGGTTTTTTTTTTGCAGAGGCAAGGTCTCACTATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTTACACTTCAGCCTCCCAAAGTGCTGGGATTACTGG
|
Task1_train_22494
|
A variant affecting Chromosome 16, within the gene PALB2 (partner and localizer of BRCA2), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Familial cancer of breast
|
AGTGATTGGTGGTTTTGTAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTCTTAAAAAAAAAAAAAATTAGCCAAGCGTGGTGGCATGTACCTGTAGTCCCAGCTACTTGGGAAGCTGAGATGGGAAGATGGTGTGAACCCGGGAGGCAGAGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGCAGAAGTGTCACAGCTAGCTAAGTGCATAGGGATAGAGAATGTCTTTTAGAACATGCACTTATCAAATAAACTTTGCATAAGGTCCAAAAAAACATGTATTGTAACTGTGTGCATTATCCTTGTGAGTTATTAAAGTCAGACCTTGTTTTCTTGATTCACTTCAGCCCAGGCTGCAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTCCCTCCCGGGTTCAAGCGATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACTACCATGCCCAGCTAATTTTTGTATGTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGACCCCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTGAACTCCTGACCTCATGATGCACCTGCCTCAGCCTCCCAATTGCTGGGATTATAGGCGTGAGCCACTGCCTGGCCAGATAAATACTTATCTATAGATAAATATAAACTGCCTGCATGATAGAGGCTCAGTCAAACTCAGTCAGATTTCAAAGTAAAGATGTCTTCCTAAAGTACCTTAAATTTTCCTTAATTTAGGTTTAGGGAAAGAACACAAATTATGTTTTTTAAATACAGAACGTTCATTACTCTTTATGTGAATTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCAGGCTTGAGTGAAGTGGTATGATTTCAGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCCATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAAGTACAGATGCATGCCAGCATGTTTGGCTAATATATATATATATTTTTTTTGGTAGAGACTGGGTCTTGCTCTGTTGTCCAAGTTGGTCTCAAACTCCTGGGCTCAAGCTCTCCTCCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCATGTGCTGCCAAAATATTTACCTTAGGGGAAAAAACAGGGCTTGAATAAACACTATTAAAAACCTATATAACCCCATACTAGTAGAGATCAGGATGCAGGGAATCTGGGGTTTGACTCAAGTCCACTAATCTTCATCCTACTTCTGAATATTCCTATCATGATATATAGTATTTCATGTTTTCCATTCTTCTAAGTGACACAAAAATATCTAGTTTTTGTGTTTGCACAGTGCCTTTCAGAATGTCCCACCCATAGAGTAGCAGTTATGCACACTTGCCTGCCAGCCTGCCCTGGAGGAAGACAGTACAGCATCACACCCACGCTGAGAGTCGTCTTAGGGTTAATCACAATGAGCTGAAACACAGGGCTTCGCAACGACTCACTCTCTTTGGCACAGGGATGACTCAGGACAATAAAGAGAAGCCCCTAATTTCGGAGAAAAATAAATATCCCAAATAGACTGTCAAGAGTATGTCAGGAAAAATAAAGATCTGGCAGAGACAAAAACCAAACAATTAAAGCAATGACCGATAGGCTCTGAAGTATCCAGGATTTAACCACTGGCTTGATTTTTTTCCCTGCCGTCTAGGAACTGTTGAGATTATTACTGGACTGGACTTCTGGCTTCTTGTTCTTCTTCTTTTTTTTTTTAGAGACAAGGCCTTCCTGTGTTACCCAGGCTGTTGTTGAACACCTGGCCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGACGTCAGCCACCGCGCTCAGCCAACTTCTAGCTTTAGCTTCTCCTGCTTCCGGTTCCCAGTGTTTGTTTTAGCCAGTCTTGCCAGGCATGAATCTGATTCATCCATTTCCTTCCCCTTAGATAGTACTACATTTCATGCCATTCATTTGGGGAAATATTGGCAAAGAGAGAATGAGGACACACATGTGCAGGGAGTGCTCAAATTAGAAATATTCATTTGTAAATTGGTTTTTGAACATTCAGAACATGTTTTCCCATAAAAACAATCTTGTACATGGTGGCTGGTTTCTCAGACCAGCCCACAATAGCCTATTTAAAACCCTGACCCTACTACTCTCTATGAATAAGGGTGACCAAAAAAAGATACCATCACCTATGGCTGTTTCTGTGAGAAAATGTGTTAAAGTTCTCTCCTGGCTTTAAAATTACAGGCTCTAATAATAATATTACTGTATGTGTGTATATATATACACACACACACACACACACACATATATACAGATTTTTTTTTTTTGAGACGGAGTTTCGCTCGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGACCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGGGCCGGGATTATAGGCGTGAGCCACGGCGTCAGGTCAAATGATTGAATTTATTAATGAAAATAAAATATTTTTATATTTAGAAAACAACTGAGGTAACTCAGGAGGCCGAGGCAGTAGGATAGCTTGAGACAAGCCTGGGAAACACAGCTGAAGACCTCATCATCTAAAAAAATTAAATTAAAATTTAGCTGGGTGCTGTGGCTCATGCCATGTAATCCCATCAACTTGGCAGGCTGAGTGGGGAGGATCGCTTGAGCCCAAGAACTCAAGGCTATAGTGAGCTATGATGGTGCCACTGATCTACAGCCTGAATGAGAGAGTGAGACCCTATCTCTAAAAGGGAAAAAAACTGAGGATTTAAAAATGTTAAATGCTATACAGTTAAGAAGAGGCTGACAAACTATGGCCCACCAGGTAAATCTAACCCAACACAATTTTTTTTTTTGAGACAGAGTCTTGCACTGTCGCCCAGGCTGGCGTGCAGTGGTGCGATGTCTGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTACTTTTAGTAGAGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACCCAACACTTTTTTTGGGGGGATAGGGTCTCACTGTCACCTAGGCTGGAGTGCAGTGGCATAATCAGCTCACTGCAGCCTTGAATTCCTGGCCTC
|
AGTGATTGGTGGTTTTGTAAAACAGGCCCCAGAAAGCTGCCTTCTACCATGTGAGGACACATCTATGAGCCAGGAAATGGGCTCTCACCAGACAGTGAATCCGCCAGCACCTTGATCTTGGACTTCCCAGCCAAAAGAATGGTAAGAAATACACTTTGTTGTTTAAAGGCTACCCAGTCTGTGGTATTTTGTTGTAGCAGCCTAATAGAACTAAGATATGCTTCCTACAGGATTGGTACCAAACAGGCTTTCAAGGATTCCTGAACAGATGAGTTTGAAAAGTGACAAAGGAAATGCTTGACCAAGCAGTTATCTTTATCTTTAATCTCTAGGGCCAACGACTATCGTTCTCTCTTCAAATCCAAGGAAGCAAGTTTTATATGAAAGCACATACTGCAGATGATAGTTCTGAGGTTCTTAGGTTCTTAAAAAAAAAAAAAATTAGCCAAGCGTGGTGGCATGTACCTGTAGTCCCAGCTACTTGGGAAGCTGAGATGGGAAGATGGTGTGAACCCGGGAGGCAGAGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAAAGCAAGACCCTGCAGAAGTGTCACAGCTAGCTAAGTGCATAGGGATAGAGAATGTCTTTTAGAACATGCACTTATCAAATAAACTTTGCATAAGGTCCAAAAAAACATGTATTGTAACTGTGTGCATTATCCTTGTGAGTTATTAAAGTCAGACCTTGTTTTCTTGATTCACTTCAGCCCAGGCTGCAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTCCCTCCCGGGTTCAAGCGATTATCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACGCACTACCATGCCCAGCTAATTTTTGTATGTTAGTAGAGACGGGGTTTCACCGTGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCTGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGACCCCAGCCTCCCGAGTAGCTGGGATTATAGGTGCCTGCCACCGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATCTTGGCCAGGCTGGTGAACTCCTGACCTCATGATGCACCTGCCTCAGCCTCCCAATTGCTGGGATTATAGGCGTGAGCCACTGCCTGGCCAGATAAATACTTATCTATAGATAAATATAAACTGCCTGCATGATAGAGGCTCAGTCAAACTCAGTCAGATTTCAAAGTAAAGATGTCTTCCTAAAGTACCTTAAATTTTCCTTAATTTAGGTTTAGGGAAAGAACACAAATTATGTTTTTTAAATACAGAACGTTCATTACTCTTTATGTGAATTTTTTTTTTTTTTTTTTTGAGACAGGGTCTTGCTCTGTTGCCAGGCTTGAGTGAAGTGGTATGATTTCAGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGCCATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAAGTACAGATGCATGCCAGCATGTTTGGCTAATATATATATATATTTTTTTTGGTAGAGACTGGGTCTTGCTCTGTTGTCCAAGTTGGTCTCAAACTCCTGGGCTCAAGCTCTCCTCCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGCATGATCCACCATGTGCTGCCAAAATATTTACCTTAGGGGAAAAAACAGGGCTTGAATAAACACTATTAAAAACCTATATAACCCCATACTAGTAGAGATCAGGATGCAGGGAATCTGGGGTTTGACTCAAGTCCACTAATCTTCATCCTACTTCTGAATATTCCTATCATGATATATAGTATTTCATGTTTTCCATTCTTCTAAGTGACACAAAAATATCTAGTTTTTGTGTTTGCACAGTGCCTTTCAGAATGTCCCACCCATAGAGTAGCAGTTATGCACACTTGCTTGCCAGCCTGCCCTGGAGGAAGACAGTACAGCATCACACCCACGCTGAGAGTCGTCTTAGGGTTAATCACAATGAGCTGAAACACAGGGCTTCGCAACGACTCACTCTCTTTGGCACAGGGATGACTCAGGACAATAAAGAGAAGCCCCTAATTTCGGAGAAAAATAAATATCCCAAATAGACTGTCAAGAGTATGTCAGGAAAAATAAAGATCTGGCAGAGACAAAAACCAAACAATTAAAGCAATGACCGATAGGCTCTGAAGTATCCAGGATTTAACCACTGGCTTGATTTTTTTCCCTGCCGTCTAGGAACTGTTGAGATTATTACTGGACTGGACTTCTGGCTTCTTGTTCTTCTTCTTTTTTTTTTTAGAGACAAGGCCTTCCTGTGTTACCCAGGCTGTTGTTGAACACCTGGCCTCAAGGGATCCTCCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGACGTCAGCCACCGCGCTCAGCCAACTTCTAGCTTTAGCTTCTCCTGCTTCCGGTTCCCAGTGTTTGTTTTAGCCAGTCTTGCCAGGCATGAATCTGATTCATCCATTTCCTTCCCCTTAGATAGTACTACATTTCATGCCATTCATTTGGGGAAATATTGGCAAAGAGAGAATGAGGACACACATGTGCAGGGAGTGCTCAAATTAGAAATATTCATTTGTAAATTGGTTTTTGAACATTCAGAACATGTTTTCCCATAAAAACAATCTTGTACATGGTGGCTGGTTTCTCAGACCAGCCCACAATAGCCTATTTAAAACCCTGACCCTACTACTCTCTATGAATAAGGGTGACCAAAAAAAGATACCATCACCTATGGCTGTTTCTGTGAGAAAATGTGTTAAAGTTCTCTCCTGGCTTTAAAATTACAGGCTCTAATAATAATATTACTGTATGTGTGTATATATATACACACACACACACACACACACATATATACAGATTTTTTTTTTTTGAGACGGAGTTTCGCTCGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTATGCGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGACCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCACCTCAGCCTCCCAAAGGGCCGGGATTATAGGCGTGAGCCACGGCGTCAGGTCAAATGATTGAATTTATTAATGAAAATAAAATATTTTTATATTTAGAAAACAACTGAGGTAACTCAGGAGGCCGAGGCAGTAGGATAGCTTGAGACAAGCCTGGGAAACACAGCTGAAGACCTCATCATCTAAAAAAATTAAATTAAAATTTAGCTGGGTGCTGTGGCTCATGCCATGTAATCCCATCAACTTGGCAGGCTGAGTGGGGAGGATCGCTTGAGCCCAAGAACTCAAGGCTATAGTGAGCTATGATGGTGCCACTGATCTACAGCCTGAATGAGAGAGTGAGACCCTATCTCTAAAAGGGAAAAAAACTGAGGATTTAAAAATGTTAAATGCTATACAGTTAAGAAGAGGCTGACAAACTATGGCCCACCAGGTAAATCTAACCCAACACAATTTTTTTTTTTGAGACAGAGTCTTGCACTGTCGCCCAGGCTGGCGTGCAGTGGTGCGATGTCTGCTCACTGCAAGCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTACTTTTAGTAGAGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCACCCAACACTTTTTTTGGGGGGATAGGGTCTCACTGTCACCTAGGCTGGAGTGCAGTGGCATAATCAGCTCACTGCAGCCTTGAATTCCTGGCCTC
|
Task1_train_22495
|
With a mutation on Chromosome 16 in gene PALB2 (partner and localizer of BRCA2), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Gastric cancer
|
AAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGGGTGCCTGTAGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGAGGCGGAGGTTGCAGTGGGCCTAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGCTTGAAAAAAAAAAAAAAAAAAAAGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATTACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGTTGGGCGTCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGCACTCCAGCCTGGGAGATAGAGCGGAGAGTCTGTCTCAAAAACAAACAAAACAAAACCTATGTGCAAAACATGCTACTAGACAAGTTGCCAACCGTAAGGAATTTTCTTTTTTTTTGAGAGACAGTCTCACTCTGTCGTCCAGCCTGGCGTGCAGTGGCGCGATCTCGGCAGCTCCCTGCAACCTCAGCGTCCCCTGGTTCAAGCGATTCTCGTGCATCAGCCTCTGAGGCCTGAGCCTCTGGGACTACAGGCTGGCGTCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTACGTTGCCTAGGCTGGTCTCAAACTCTGAGCTCAAGCGATCTGCCCATCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCAGGGAGACTGGCCTCCCACCAATCTTATCAATGTCTGGGGATTATCTTGTTTACTTATAAATGATCTTTCTCACCTCCACCAGAAGGTAAGCCAGGATAAGAATAACATCAGCACAAGCTGGAAACATCCTAAAAGTCTATCAGTAAAGTACAGTCTAAAGAAGCAAGGGCACTTCCAAGGCCAGGTGCAGTGGCGGGTTCGTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCGCTTGATCCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACCCCAGCATGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAGAAGAAAAACAGAAAAGGAAGAAAAAAGAAACAAAACGAGGGCACTTCCAAACTACAACATACTGTCTAGAACTTAAAAAAGAAAGCAAGGTAGATAAACATGTCCTGACAGGAAAGCTAAACGGAACCTGCAGAACCATTCAGATCATACCATTTATGAACATTCCCTTCTCCAAAAAATATACATAGGATTCCTTTTTGGTGGTTAGGGATACGCCCCTCCTCCACCACCCACATTAACACACGAAAGGACCTGGAAGTACCAGACTTAAAAGATTTACTTGAGGCCGTCCGGGGGGAGAAGTAAAGATTGAGGGTGTGGGAGGGGGGAGGAGCAAGGGTGTCGATACAGCTTTATCTACAAACTGTTACACATTGTATTAATGCGCTGCTACTGTAATGAAATTTGTTCTTTAAACGCCACCACGTGAGCACCACGCTATTTCCACATTTTCATTTTCTGTGCCCCCTCAGCCCTAAGAGGAGGGGGTGGTCAGATGATACTGCTGCCCTCGGACTGCCGAGGACACAAAGCCAGGCCTAAAACCCTGGGAAAGCGGGGTCAGAGTCCTGCGTCCGCCCTTCCCGCACCCCCGGCACCTTTTCCTTCTCCTCACAGCTGAGGGGCTTCCCGGGAGGCTCGTCCATCGGGCAGGCGACAGAACGAAAAGAGCAGCCGTCGCCGACCCCAGGCCTGCCGACACCGGGACCCAGTTGGCCCTGGGCCGGGGAGGCGCCCCAGGAAGGAATGGGGAGCCCGGGATCGCACCCTCAGTGCGCGATCAGCTGACCCACGCGGGCCAAGCGCGCCCTAAACTCCGGCCAATTAAATCCACCATTCGGCCTGCGCACGCGCAGCCGTAGACGGCCGAGCAGTGGAGCGAGGCCGCCTAAAGGAGAGCCGCGCTGTCGATGAGTCCCAGTGGGCCACCTGGAGCGGAAGTGGAGGAGCGGCCGGAAGTAGCCGGAATCTCTGAAAGACTGACCGACTGACTCTGACAGGATCCGGGGCTGAGGGAAGGAGGCGGCGGCCATGGAGTTGGGCGAGCTGCTCTACAACAAGTCTGAGTACATCGAGACGGTGCGCGGGTCCAGATATGTATCCTCCTCTTTCCAACCCTGCGTCCCTTTGAGGCCTGGTCGGCGTTCCCAACCTGCCCCTACCCCACCAACCCCTGTCCCTTTGGCCATTAGTCCCGGATTATCTAGCGATGCCCCGTGTACCGTCTGGCTTTGCTGTTTACTCCGCGCTTGGCCAGTTGAGGCCTTTTGTATTTATTCCTGATTTTCTCATAGGGGTAAAGTGCCTTCGGGAGGATAGGACAAGTCCCATCCTGTTCATACGAATTACAGCTCGGACTTCGGGCCCTTTTACACTGCCTTTTGTATCTGTTAACTTGCGCTAAAAACGATTCGGTTCTTTTTTTTTGAGGAAGGGGGTTGGGGGGCGGAGACTCTGTCGCCCAGTCCTGAGGGCCGCGGCGCGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCGTCTCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCAGGTCCCTAACTCTTGACCTCAGGTGATCGACCCGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCGCACCCTGCCGATTTGGTTCTTTATGATCAGTACATGATATGTTTGTAAAATCTTGGAAACAGGGCAAGTGGTCAATTAACGTTACTATCGTTATTTTGGTTTTCTTTGCTTTCTCACAACTCTGATACTCATAGTCATTATCCTCGTTTTAAGGCCGTAAAGCCCACGCGTGGAAGTGGGATTTGAATCCGCGTCTGTCTGATGCCACCAAGCTATAGACATTCAAATTATGAGTTTATTCCTTGAGTCCCTAGTTTCCTTTGTGTTTTTATTTTTTGAGACAGGTTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCATTGCAGCCTCGGCCTTCCAGGCTCAAGCGATCCTCTAGCCTCAGCCTTCTGAGGAGCTGGGACTACAGACACGCGCCACCATGCCCGGCTAATTAAAAAATTTTTTTTTTGTTGAGAAGGGGTCTCACTATGTTGCCTAGGCTGGTCTTGAGCTCCTGTCCTCAAGGGATCCGTCTGCCTCAGCCTCTCAAAGTGCTGAGATTACAGGCATGAGCCACCATACTCAGCCATAGTTTCCTAATCCATCATTGCTTTTTTGATATCCTGGACTCACTCCATTGTGGACAGCACCCCACTTTATGTTTTTTTCTCTCAAATGGGAGCTTTCTTGATGGAAACCTGTAGTCCAGAAACCTATTAAGTTTGCTTTCCCCGGTTTTCCGTTGTTTTCTTTTAGGCATCTGGGAACAAAGTCAGTCGCCAGTCAGTGTTGTGTGGAAGCCAGAACATCGTTCTCAATGGCAAGGTAAGGGACAAAGCCAGCTCCAGGCTGCAAACCTTAGCTTGCGTTCTGCTAATTGTCACCACAGCAGGGCAGATAAAATGTTGCCATATCTCCTATTTATTGTTTACATTTTTAATTCTCTTGTTTTTAAATTTTTTATTTTGTAAATTGGATCTCCTTTTTGTTTTTTTTTTGTTTCGG
|
AAAGGATTCTCTCAGCAGCAAAGCCAGCCTCGGTTTTTCTGCTTTTTAGCAACTTTTTAGCTGTACTCATCTTTCAACCAACAAAACATCAAGATTTCCATCCTCCATACATGCCTTTTTTAAAAAAAAGAAAAGACCTACTCAGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAACACTTGGGGAAGCTGAGGTGGGTGGATCATTTGAGGTCAAGAGTTCGAGACCCGCCTGGCCAACATGGTGAAATCCTGCTTCTACTAAAGATACAAAAATGAGCCGGGTGTGGTGGTGGGTGCCTGTAGGAGGCTGAAGCAGGAGAATTGCTTGAACCCGGAGGCGGAGGTTGCAGTGGGCCTAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCTGCTTGAAAAAAAAAAAAAAAAAAAAGGCCGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCAAGGCGGGCAGATTACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCCGGCGTGGTGTTGGGCGTCTGTAATCCCAACTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGAGAGGCGGAGGTTGCAGTGAGCCAAGATCGAGCCACTGCACTCCAGCCTGGGAGATAGAGCGGAGAGTCTGTCTCAAAAACAAACAAAACAAAACCTATGTGCAAAACATGCTACTAGACAAGTTGCCAACCGTAAGGAATTTTCTTTTTTTTTGAGAGACAGTCTCACTCTGTCGTCCAGCCTGGCGTGCAGTGGCGCGATCTCGGCAGCTCCCTGCAACCTCAGCGTCCCCTGGTTCAAGCGATTCTCGTGCATCAGCCTCTGAGGCCTGAGCCTCTGGGACTACAGGCTGGCGTCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTACGTTGCCTAGGCTGGTCTCAAACTCTGAGCTCAAGCGATCTGCCCATCTCGGCCTCCCAAAGTGCGGGGATTACAGGCGTGAGCCAGGGAGACTGGCCTCCCACCAATCTTATCAATGTCTGGGGATTATCTTGTTTACTTATAAATGATCTTTCTCACCTCCACCAGAAGGTAAGCCAGGATAAGAATAACATCAGCACAAGCTGGAAACATCCTAAAAGTCTATCAGTAAAGTACAGTCTAAAGAAGCAAGGGCACTTCCAAGGCCAGGTGCAGTGGCGGGTTCGTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAGTCGCTTGATCCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCGCGCCACTGCACCCCAGCATGGGTGGCAGAGTGAGACTCTGTCTCAAAAAAGAAGAAAAACAGAAAAGGAAGAAAAAAGAAACAAAACGAGGGCACTTCCAAACTACAACATACTGTCTAGAACTTAAAAAAGAAAGCAAGGTAGATAAACATGTCCTGACAGGAAAGCTAAACGGAACCTGCAGAACCATTCAGATCATACCATTTATGAACATTCCCTTCTCCAAAAAATATACATAGGATTCCTTTTTGGTGGTTAGGGATACGCCCCTCCTCCACCACCCACATTAACACACGAAAGGACCTGGAAGTACCAGACTTAAAAGATTTACTTGAGGCCGTCCGGGGGGAGAAGTAAAGATTGAGGGTGTGGGAGGGGGGAGGAGCAAGGGTGTCGATACAGCTTTATCTACAAACTGTTACACATTGTATTAATGCGCTGCTACTGTAATGAAATTTGTTCTTTAAACGCCACCACGTGAGCACCACGCTATTTCCACATTTTCATTTTCTGTGCCCCCTCAGCCCTAAGAGGAGGGGGTGGTCAGATGATACTGCTGCCCTCGGACTGCCGAGGACACAAAGCCAGGCCTAAAACCCTGGGAAAGCGGGGTCAGAGTCCTGCGTCCGCCCTTCCCGCACCCCCGGCACCTTTTCCTTCTCCTCACAGCTGAGGGGCTTCCCGGGAGGCTCGTCCTTCGGGCAGGCGACAGAACGAAAAGAGCAGCCGTCGCCGACCCCAGGCCTGCCGACACCGGGACCCAGTTGGCCCTGGGCCGGGGAGGCGCCCCAGGAAGGAATGGGGAGCCCGGGATCGCACCCTCAGTGCGCGATCAGCTGACCCACGCGGGCCAAGCGCGCCCTAAACTCCGGCCAATTAAATCCACCATTCGGCCTGCGCACGCGCAGCCGTAGACGGCCGAGCAGTGGAGCGAGGCCGCCTAAAGGAGAGCCGCGCTGTCGATGAGTCCCAGTGGGCCACCTGGAGCGGAAGTGGAGGAGCGGCCGGAAGTAGCCGGAATCTCTGAAAGACTGACCGACTGACTCTGACAGGATCCGGGGCTGAGGGAAGGAGGCGGCGGCCATGGAGTTGGGCGAGCTGCTCTACAACAAGTCTGAGTACATCGAGACGGTGCGCGGGTCCAGATATGTATCCTCCTCTTTCCAACCCTGCGTCCCTTTGAGGCCTGGTCGGCGTTCCCAACCTGCCCCTACCCCACCAACCCCTGTCCCTTTGGCCATTAGTCCCGGATTATCTAGCGATGCCCCGTGTACCGTCTGGCTTTGCTGTTTACTCCGCGCTTGGCCAGTTGAGGCCTTTTGTATTTATTCCTGATTTTCTCATAGGGGTAAAGTGCCTTCGGGAGGATAGGACAAGTCCCATCCTGTTCATACGAATTACAGCTCGGACTTCGGGCCCTTTTACACTGCCTTTTGTATCTGTTAACTTGCGCTAAAAACGATTCGGTTCTTTTTTTTTGAGGAAGGGGGTTGGGGGGCGGAGACTCTGTCGCCCAGTCCTGAGGGCCGCGGCGCGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCGTCTCGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTTTGGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCAGGTCCCTAACTCTTGACCTCAGGTGATCGACCCGCCTCGGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCGCACCCTGCCGATTTGGTTCTTTATGATCAGTACATGATATGTTTGTAAAATCTTGGAAACAGGGCAAGTGGTCAATTAACGTTACTATCGTTATTTTGGTTTTCTTTGCTTTCTCACAACTCTGATACTCATAGTCATTATCCTCGTTTTAAGGCCGTAAAGCCCACGCGTGGAAGTGGGATTTGAATCCGCGTCTGTCTGATGCCACCAAGCTATAGACATTCAAATTATGAGTTTATTCCTTGAGTCCCTAGTTTCCTTTGTGTTTTTATTTTTTGAGACAGGTTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCACAGCTCATTGCAGCCTCGGCCTTCCAGGCTCAAGCGATCCTCTAGCCTCAGCCTTCTGAGGAGCTGGGACTACAGACACGCGCCACCATGCCCGGCTAATTAAAAAATTTTTTTTTTGTTGAGAAGGGGTCTCACTATGTTGCCTAGGCTGGTCTTGAGCTCCTGTCCTCAAGGGATCCGTCTGCCTCAGCCTCTCAAAGTGCTGAGATTACAGGCATGAGCCACCATACTCAGCCATAGTTTCCTAATCCATCATTGCTTTTTTGATATCCTGGACTCACTCCATTGTGGACAGCACCCCACTTTATGTTTTTTTCTCTCAAATGGGAGCTTTCTTGATGGAAACCTGTAGTCCAGAAACCTATTAAGTTTGCTTTCCCCGGTTTTCCGTTGTTTTCTTTTAGGCATCTGGGAACAAAGTCAGTCGCCAGTCAGTGTTGTGTGGAAGCCAGAACATCGTTCTCAATGGCAAGGTAAGGGACAAAGCCAGCTCCAGGCTGCAAACCTTAGCTTGCGTTCTGCTAATTGTCACCACAGCAGGGCAGATAAAATGTTGCCATATCTCCTATTTATTGTTTACATTTTTAATTCTCTTGTTTTTAAATTTTTTATTTTGTAAATTGGATCTCCTTTTTGTTTTTTTTTTGTTTCGG
|
Task1_train_22496
|
Chromosome 16 houses a mutation in gene PRKCB (protein kinase C beta). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Progressive sensorineural hearing impairment
|
GATGTGAGCCACCACACCCGGTTTCTATTCTTATTTTTAATACTTAATTGTTAACACGTATATTTAAACTTATAATGTCCTATATGCAATTTCTCAATATCAATAATCTTTTGAGGAATATAAGACTCAGCACATTTTCATCTTGTAACCCTCCTGCAACTCCCATTTCTTATGACTTGGGTTTTCTCTACTTCTCTATCTCTTCCTCTGTTGAAAACTTTTCATATTATGGAAAAAATTAAACATATATAAAAGTAACATTAGTATAATGCATCCTTGTGTATGCATCACCCAGTTCAATAATGACCCATCATGATCAATTTCTTTTTCATCTGTAATCCTCCCCTTTCTCTCCCCACCTTGGCATACTGAATTATTTTAAATTATTTTATCCATAAAGATGTTAATGTATCCTCAAAGATAAGGATTCTATAAGCAAAGAAAAACAAGACCATTATCACACCAAATATTTTTCATTCCCTAATATCAGTAACAATAATTCCCTTATGTCATCAGAAAGTGAGTATATCCATTTCCCTGATTGCCTTACAGTTTTTTAAACTGTTGGTTTTTTTCCACTTAGAATCCAAACAAGGTCCACATGTTAAATTTAGTTGATATGGGTTGATAGGTGCAGCAAACCACCATGGCACATGTATACCTGTGTAACAAACCTGAATGTTCTGCACGTGTATCCCAGAATTTAAAGTAAAATTAAAAAAATTTAGTTGATATGTTTCTTAAATTCCTTTGAAAATATACGTTTCTCGTCCTATTTTCTCCCCACTTGCAGTCCTCTCTTGTAGTCTATTTGTTGAAGATACCATATTCTTTGCCTTGTAGTTTTCTACATTCTGGGTATTTGGTTGGGGTGGGGGGGGGTGTGTTTGCTGATCGCATCCCTGTGGTGTCATTTAATATGTTCCTCTGTCACTTGTATTTTCTGTAAATCTGTATTTGCATCAAGAGACTTGAACCAATCATATTTGATTATTTGACAAGTGTACTTCATAGGTAGTGAAGTGAGCTTTCCTCTGTAGGCAAGTGGTATCTTTTTGTGACCTTAGCAACCATAGATGAATGTCACCTAGACTCATTGTGTCACTAGGGATGGCCTTGAGGTTTCCTGTTCTATTTTCATTTACTAAGCATGCACTTTAGAAAGGCTCTGAGCTGCTCCCTGAAGCATGGCACCCGTCCTCCAGAAACCCGCAGTCTAGAGGTTGTAAAAGAAGATTTGAACACCAAGACTGTAAAAGATGATTTGAACAACAACAACAACAACAAAGCAGTTTTATTTTGTATACATTCTTTCATTGTACCTCCCCCAGAGGGATATAACCTCCAAATAGGGGAGCCATACCATAGATGCATTAAATTCACACCAATTCAAATGTGTGTATATATGTATTTGCTTGCAGACTACTAAAGTGACAATGTAAACGTTGCTGCCTATTTTTCCCACTCTTCTATTAGATTGACGTTGCTTTTGGTGAGATGGGGCATGAGTCCACCATCCTGTCCCCTCTGTTTCCACATGACCCTCATCGTATGAACACCTCTCTTAAGTGTGATTCTAGGATTTAAAGATACATATTTCTTATGCATTATGCACCTAAACACAAGCCAACTACTTCATCTGGCACCTGATCCAAGAAACAACATTCTGTTCCAAAATCAATAGAAGACAAGGCACTTTAAGGGATCTTCAAGGGAGTGTAATTTTGAGCATATGGAATCTTTCTAACCCTAGCTAACTTTAGAAGTTTAACTCCTATGCAAGATGAAGCATCTATGTTCCCAAGAGTTTGACTTCAGCAAAGGACAAGCTGCAGAAGCTGACATTATTGTTTATTTTGGCATAAAGGCTTTACTTGTTGGTGAAGTTCAAGTTTAATGATCTCTTCCTCCCTTTCTCTCTCTTCCTCCTCTCCGCTTTCCTTCTTCCCTTCCTCCCACCCTGATTTTCTCTTTTGCAGTTTGCTGCTTTGTGGTGCACAAGCGGTGCCATGAATTTGTCACATTCTCCTGCCCTGGCGCTGACAAGGGTCCAGCCTCCGATGTAAGTAATGGGCATCGATTGCTTTTCTCTGTCCACAGTCAATGCTGCCTTGTGATTAAATGTGAGTGAGCATTCTTAGACGAGTAAGTGTGGACGATCTCACTCTAAGGCATGTGGTGGTCCCTATAGCTTTTGAGACAGTTTTCCTTTTAGTGGAAAACAAAATTTTGGAGGGAGTGTGGCTGGATAGGAAGTCAGCTAGTTTGTCTACTATGATTTTGCTAATGTCTTCACTTTGAGAGCTGGAGCACGGAGGGTGAGAGGCAGGGGCCTACTTGGTAGTGTGGCTGCAAAAAGGTAGTTTCGGTGGTACTTTGCAGTGCACGTTATGGCACTTTGTTAGGGTGTTCTTTCTTTTGTTATTGTTATTATTATTTTTATTATTTTTCAGATGGAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGAGCAATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGACAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCCCGGCCTATTATTATTATTATTTAAGAGTGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTCCAGGCGTGAGCCAGTGCACCCTGCTTGTTAGGGTGTTCCTAATATCAGGGCCCAGGAATGAGGAGGAAATGAATTTATCCTGCTACCATGAATCTCAAAGTATGACTACTGCTAGTGGGACAAGAGATGCTTGTAGGTAAAATGTGCAAAAAATTTTTGTTTTAATCATTATAAATGTATTTTAATGTGGATTGGGAAAAATGTATCTAGTAGTGGTTTTGCATTTATGATAAGGATATAGAATTTCCTACCTAAGTAAAGATTTTTAGGTTAAACAAAAGATAAACTGATTTGAGGACAATATTAAGTGAATGACAGTATGGGTGATATAAGGATATGGCAAAAGTTTTGGTACAAATGTGTTTAAAGTTTAGGGTACATTGTTGATTGGCCTACCCAGCAGCCATTCACAGCCTTCATCCTTCTGGCAGAGGCTACCTCTCATGATGGAAGCTAAAAATGCCTAATACTTGCTTTTCCCGGCTCTCTTGTAGCTGCTGAATGAGGATGTGACCCAATCCTGCTAATGGGAACTGAGGGGAAGACCTGGGAAAGAGTCTAGGAAAGATTTTTCCTTTCTGATAAGAGAGAGACATCCCTTCCCTTGTCCTCTTGGGCATTTTTGTACAAGGATATAATGCTTGGAGTTGTGGCAGCCCTTTTGGGTCAATGAGGGACACATTGCCGACATCCTGAGCATGGCAGAGTGGAAAACTTAAAAGAACCGTGGGTCCATGATGATGCTGATGAGCTGTTGATACCACTCACAGTCCTTTTATCCCCAAGCTGGATAGATGGGAGAAGAAGCTTTTTTTTTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCTAGCTCCTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTAAGCGGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCGAAAAAAAAGAAAAAAAAGAAGCTTTTTTTTTTTTTTTCTTTTTTTTTTTAAGCAAAGTCTTACTCTTTGAAGCCTTCTCTTTTATTTTTGTTTTTTTCTCTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCCAGAGTGTGGTGGCATGATCATGTCTCACTCAC
|
GATGTGAGCCACCACACCCGGTTTCTATTCTTATTTTTAATACTTAATTGTTAACACGTATATTTAAACTTATAATGTCCTATATGCAATTTCTCAATATCAATAATCTTTTGAGGAATATAAGACTCAGCACATTTTCATCTTGTAACCCTCCTGCAACTCCCATTTCTTATGACTTGGGTTTTCTCTACTTCTCTATCTCTTCCTCTGTTGAAAACTTTTCATATTATGGAAAAAATTAAACATATATAAAAGTAACATTAGTATAATGCATCCTTGTGTATGCATCACCCAGTTCAATAATGACCCATCATGATCAATTTCTTTTTCATCTGTAATCCTCCCCTTTCTCTCCCCACCTTGGCATACTGAATTATTTTAAATTATTTTATCCATAAAGATGTTAATGTATCCTCAAAGATAAGGATTCTATAAGCAAAGAAAAACAAGACCATTATCACACCAAATATTTTTCATTCCCTAATATCAGTAACAATAATTCCCTTATGTCATCAGAAAGTGAGTATATCCATTTCCCTGATTGCCTTACAGTTTTTTAAACTGTTGGTTTTTTTCCACTTAGAATCCAAACAAGGTCCACATGTTAAATTTAGTTGATATGGGTTGATAGGTGCAGCAAACCACCATGGCACATGTATACCTGTGTAACAAACCTGAATGTTCTGCACGTGTATCCCAGAATTTAAAGTAAAATTAAAAAAATTTAGTTGATATGTTTCTTAAATTCCTTTGAAAATATACGTTTCTCGTCCTATTTTCTCCCCACTTGCAGTCCTCTCTTGTAGTCTATTTGTTGAAGATACCATATTCTTTGCCTTGTAGTTTTCTACATTCTGGGTATTTGGTTGGGGTGGGGGGGGGTGTGTTTGCTGATCGCATCCCTGTGGTGTCATTTAATATGTTCCTCTGTCACTTGTATTTTCTGTAAATCTGTATTTGCATCAAGAGACTTGAACCAATCATATTTGATTATTTGACAAGTGTACTTCATAGGTAGTGAAGTGAGCTTTCCTCTGTAGGCAAGTGGTATCTTTTTGTGACCTTAGCAACCATAGATGAATGTCACCTAGACTCATTGTGTCACTAGGGATGGCCTTGAGGTTTCCTGTTCTATTTTCATTTACTAAGCATGCACTTTAGAAAGGCTCTGAGCTGCTCCCTGAAGCATGGCACCCGTCCTCCAGAAACCCGCAGTCTAGAGGTTGTAAAAGAAGATTTGAACACCAAGACTGTAAAAGATGATTTGAACAACAACAACAACAACAAAGCAGTTTTATTTTGTATACATTCTTTCATTGTACCTCCCCCAGAGGGATATAACCTCCAAATAGGGGAGCCATACCATAGATGCATTAAATTCACACCAATTCAAATGTGTGTATATATGTATTTGCTTGCAGACTACTAAAGTGACAATGTAAACGTTGCTGCCTATTTTTCCCACTCTTCTATTAGATTGACGTTGCTTTTGGTGAGATGGGGCATGAGTCCACCATCCTGTCCCCTCTGTTTCCACATGACCCTCATCGTATGAACACCTCTCTTAAGTGTGATTCTAGGATTTAAAGATACATATTTCTTATGCATTATGCACCTAAACACAAGCCAACTACTTCATCTGGCACCTGATCCAAGAAACAACATTCTGTTCCAAAATCAATAGAAGACAAGGCACTTTAAGGGATCTTCAAGGGAGTGTAATTTTGAGCATATGGAATCTTTCTAACCCTAGCTAACTTTAGAAGTTTAACTCCTATGCAAGATGAAGCATCTATGTTCCCAAGAGTTTGACTTCAGCAAAGGACAAGCTGCAGAAGCTGACATTATTGTTTATTTTGGCATAAAGGCTTTACTTGTTGGTGAAGTTCAAGTTTAATGATCTCTTCCTCCCTTTCTCTCTCTTCCTCCTCTCCGCTTTCCTTCTTCCCTTCCTCCCACCCTGATTTTCTCTTTTGCAGTTTGCTGCTTTGTGGTGCACAAGCGGTGCCATGAATTTGTCACATTCTCCTGCCCTGGCGCTGACAAGGTTCCAGCCTCCGATGTAAGTAATGGGCATCGATTGCTTTTCTCTGTCCACAGTCAATGCTGCCTTGTGATTAAATGTGAGTGAGCATTCTTAGACGAGTAAGTGTGGACGATCTCACTCTAAGGCATGTGGTGGTCCCTATAGCTTTTGAGACAGTTTTCCTTTTAGTGGAAAACAAAATTTTGGAGGGAGTGTGGCTGGATAGGAAGTCAGCTAGTTTGTCTACTATGATTTTGCTAATGTCTTCACTTTGAGAGCTGGAGCACGGAGGGTGAGAGGCAGGGGCCTACTTGGTAGTGTGGCTGCAAAAAGGTAGTTTCGGTGGTACTTTGCAGTGCACGTTATGGCACTTTGTTAGGGTGTTCTTTCTTTTGTTATTGTTATTATTATTTTTATTATTTTTCAGATGGAGTCTTGCTCTATCGCCCAGGCTGGAGTGCAGTGGAGCAATCTCAGCTCACTGCAAGCTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGGAGCTGGGACTACAGGCACCTGCCACTATGCCTGGCTAATTTTTTGTTTTGTATTTTTGGTAGAGACGGGGTTTCACCGTGTTAGACAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACTGTGCCCGGCCTATTATTATTATTATTTAAGAGTGTTGCCCAGGCTGGTCTCAAATTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGTTGGGATTCCAGGCGTGAGCCAGTGCACCCTGCTTGTTAGGGTGTTCCTAATATCAGGGCCCAGGAATGAGGAGGAAATGAATTTATCCTGCTACCATGAATCTCAAAGTATGACTACTGCTAGTGGGACAAGAGATGCTTGTAGGTAAAATGTGCAAAAAATTTTTGTTTTAATCATTATAAATGTATTTTAATGTGGATTGGGAAAAATGTATCTAGTAGTGGTTTTGCATTTATGATAAGGATATAGAATTTCCTACCTAAGTAAAGATTTTTAGGTTAAACAAAAGATAAACTGATTTGAGGACAATATTAAGTGAATGACAGTATGGGTGATATAAGGATATGGCAAAAGTTTTGGTACAAATGTGTTTAAAGTTTAGGGTACATTGTTGATTGGCCTACCCAGCAGCCATTCACAGCCTTCATCCTTCTGGCAGAGGCTACCTCTCATGATGGAAGCTAAAAATGCCTAATACTTGCTTTTCCCGGCTCTCTTGTAGCTGCTGAATGAGGATGTGACCCAATCCTGCTAATGGGAACTGAGGGGAAGACCTGGGAAAGAGTCTAGGAAAGATTTTTCCTTTCTGATAAGAGAGAGACATCCCTTCCCTTGTCCTCTTGGGCATTTTTGTACAAGGATATAATGCTTGGAGTTGTGGCAGCCCTTTTGGGTCAATGAGGGACACATTGCCGACATCCTGAGCATGGCAGAGTGGAAAACTTAAAAGAACCGTGGGTCCATGATGATGCTGATGAGCTGTTGATACCACTCACAGTCCTTTTATCCCCAAGCTGGATAGATGGGAGAAGAAGCTTTTTTTTTGGCCAGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAAACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCATGGTGGTGGGCGCCTGTAGTCCTAGCTCCTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCAGAGCTTGCAGTAAGCGGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCGAAAAAAAAGAAAAAAAAGAAGCTTTTTTTTTTTTTTTCTTTTTTTTTTTAAGCAAAGTCTTACTCTTTGAAGCCTTCTCTTTTATTTTTGTTTTTTTCTCTTTTGAGACAGAATCTTGCTCTGTTGCCCAGGCCAGAGTGTGGTGGCATGATCATGTCTCACTCAC
|
Task1_train_22497
|
This is a variant in IL21R (interleukin 21 receptor), located on Chromosome 16. Is this mutation a likely cause of disease or not?
|
Pathogenic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome
|
TCCTGACCTCGTGACCCACCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGACTGTTTTATTTCGTCACAGTCCCTAAACCTGCTTCACTCCTCTCTGTGACCTGCCCGCCCCTGAGTTTGCAATCCTGATCAGGTCTAAATCTCCCAGGTCCCAGATGAATAAACTGAAGCCCAGAGTTGGGAGTACTTTGCCCAAAGTCACTCAGGGTTGTTGGTCTTCATCTCATCCATGATGGGTCAGGCATGGAGGCAGGGGTGGGGGCAGGCAGGACTTCCTCCCATCACCAAATCCTTTTCACCTGCAGCAAATTCTCACCCCATTTTCTTTTCCTGGGTTTTTCCACCAAGTCAAGCCGGCTCCCCCTTTCAACGTGACTGTGACCTTCTCAGGACAGTATAATATCTCCTGGCGCTCAGATTACGAAGACCCTGCCTTCTACATGCTGAAGGGCAAGCTTCAGTATGAGCTGCAGTACAGGAACCGGGGAGACCCCTGGGCTGTGGTGAGGAATGTGGGGATCAGTGCAGCTTTGTGGGAGGGGAGGGGAGATGACGGAGTGCAAAGGCATCTGGGTGGGAGAGACGGGTGAACAACATCATTCATGGCCAAGAACAGAGACCAAGGGCACGAGCACTCCCTTACAGCGGGCCCTCCTCCTCCCCTCACTTCTCCCCAAGGTAGGAGACCCCTGAATAATCTGTCCTCCCCAAACTGGTCTCCTCGGCGGTCAGCATGCCAAAGAGACTGTCCCTTCCCCAGACTCCACCCCAGGTCTAGCATAGTCACAATAGAAGAAGTTTCAGAAATGGGGCAACCTGGAAGCTTCCCAATTGCTTAGAATGGCCATAGTTGGAGAGTTCCAGAAATATCAATTATTAAGAAGGTCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCAGGTGGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCAGGGCAACATGGTGAAACTCTGTTTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGACATGCACCTGTAATCCAGCTATTCTGGAGGCTTAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGGGATCGCGCTACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCGATCTCAAAAAAAAAAAAAAGGTCCAGTGTTAGAGGGCCCATTGTTTCAAACATGAAGGTGTTGAGTGATGTCCTTCCAGCCCACTATTTAGAACAGTCACAAGTGATGTACTGTCTCTAAAAAATAAAAAATAGTAACAATGATAGAACAGTCACAGCTGAAGAGTTCTAGAATTGCCCATCCTTTAGGATAGTCCCAGCTGAAGATGTCCATGAGTGCCATACTTTAGAAAGTCCCCAGTGGAAGACTTCCAGAGGTATCCATTGCTAAGATGTCTGTAGTTAGAGTTCTAGAAATGCCTGCTGTTGGGAATGTCAGTATGTCAACTCTTGGAATTCTTCAACAGTTGAAGACATTCTCCACTGATGTACTGAGACTTATATCAGTAGTACATCGGTTGAGAATGTCCTCAACTGTTGAAGAATTCCAAAAGTATGCATTGCCTGGAATGCTGCCAGACCATTACCACTCCTGAGATATGCCCAGTCCTGCAGGGAGAGTCCACTGCCAGGACTGTGAGTGGCTGAATTGGATCAAAGAGAAATCAAACAGAGCATCCTATCACATGCACGGGCCAGGCAGTGCTGGTGAGTCTGTGCTCCCCATGCCTGAGTCCAGCTACTCAGGCATAGGCTTGATTCTTGTGGGAAGAGAAGAGACACTCAGCCCCTTTGATGGAAGCTGGGAAAAGAGGTGGCTCTGCTGGAGGCAGGGGCTGGCCTGGTTTAACCCTGACCTGGTGCATCCTTTCCTTGTACTGGCAGAGTCCGAGGAGAAAGCTGATCTCAGTGGACTCAAGAAGTGTCTCCCTCCTCCCCCTGGAGTTCCGCAAAGACTCGAGCTATGAGCTGCAGGTGCGGGCAGGGCCCATGCCTGGCTCCTCCTACCAGGGGACCTGGAGTGAATGGAGTGACCCGGTCATCTTTCAGACCCAGTCAGAGGGTAGGTGTGAAGCTGGGATGGACACCCCACTCCTGGTATCAAATTTTGTCCTGTTCTAGCCACCCTAAGCCCTGAGCTTTCTGGCACAGCTGGGAGGTATTCAGTTGTTCATCCTCAGATGTAGCCCTTCAATTACATTTCTAGAGCCCCTGCTGGCCAGGCCCTGTTGGGTGCCAGCTGCTTCTTCTGTTAGGCATTTGATCCCCCTAACTCTGAAGTGGGAATCAGCCCTGTTTTTCAGACGAGATAACTTAGGCTCAGAGAAATGAAGTTACTTGCCTGGGGTGAGGAATGAGAACAAGATTTGAACCCAGATCCATCTCACTTCAAGACACTAGCAGTAACAGCCTCTCCTACCCTCTTCCACTCTACCCCAGACCCATTTCCCACCATGCCCACCCCATATGGCCTCTGGTAGAGTTGGTGCCATTTAACCCTTTCTTTGCTTCCTTCCCAGAGTTAAAGGAAGGCTGGAACCCTCACCTGCTGCTTCTCCTCCTGCTTGTCATAGTCTTCATTCCTGCCTTCTGGAGCCTGAAGACCCATCCATTGTGGAGGTGAGGCCAGGGGATGAGGAAGGCAGGGAGGTGGTCAGCCTGGGCCACTGCCCCTGTATGATACATGCAGGGTTGGAAAACATGACTGTCATCATGGTAACAATGATGATGATGGGATAATAACCAACTCACAGCCACCATGTGCTGGACACTGTGGAGGGCACTCCCTTCACCCCCATGGCTGCCCTATGAGCTTGAGACACTGCAGTTGCCCTTATTTTACAAATGGAGAAACTGAGGCAAGGAGATGTCAAGGACAAAGTCACACAGCTCCAAGGTGGAGAAATTGGGATTGAAAATCTGTGCCCTTAAACAGGGACCTCAGCTGTGATCTTGTCCAGTGGATTTTAAGCTTTGAGGCTTAATGGGCTTAAGGGGCCACTAGGTGGTGGTGAAGAGGTGGCTGTAATAGTCCACACCTCTGAAATGGCCTCTCTGCGCACCCCTGGTTGCAGATAAAGAAGTTGAGGCTCAGAAGGGGCAACATTTGCCCAGCACGCAACAGGCAGCCAAGAACATAACCACGATATCCCTTCAGGAGCCTGTGAGGGAGACTTACTTCTCCCATTTTACAGAAGGGGAAACCAAGCCCCAGGGAAGGAGGGAGGCGCCTGGGCTGAGTCTTGGGATGCTCGGAAGCTCCTGTAGGATGAAGCTGGGGAGCGTCCGAATGGGAGGCCAGGCTGCCCTCTGGTGATGTCAGGGTCCTCACCCCTCTCTGCCCCCTCAGGCTATGGAAGAAGATATGGGCCGTCCCCAGCCCTGAGCGGTTCTTCATGCCCCTGTACAAGGGCTGCAGCGGAGACTTCAAGGTGAGCTCCCGACCCTGTGATGAGCTCCTCGGAGCCCCTCCTCCTCTTCAGGAGCCCCACCTCCCCTCACCCCAGGCTCCCCAGCCTCACCCCACAGGCCTAGAGCATCCAGGTCTCAGCCAAGCCACAAGCCAGGCCTCAGTTTCCCCATGTGCAAAGTGTAGACAGTCATTCTTGTGGTGCAGAATTGGCAGAAGAATTAAACAAGATTTGACCAGGTGTGGTGGCTGACATCTGCAATCCCAGCACTTTGGGAGGCCAAAGCAAGTGGACTGCTTGAGGCCAGGAGTTCAAAAACAGCCTGGGCAACATAGGGAGACCCTCACCACCACTCCGCCTCCCCATCTCTACCAAAAACTTAAAAATCATTCAAGTGAGGTGGTGCACGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGACGATCGTTCAGAGGCTGCCGTGAGCTATGATCACACCACTGCCCTCCAGCCTGGCCAACAGACAGAGACTATATCTTAAAAAAAAAAAAATCAAAAAGAAAAAGTAAACAAAATAATGCAGCATTGGCCCAGCCCAAGGAACCAGACTGGGATAGGGGGTGAGGCTGGTGG
|
TCCTGACCTCGTGACCCACCTGCCTTGGCCTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCAGCCAGACTGTTTTATTTCGTCACAGTCCCTAAACCTGCTTCACTCCTCTCTGTGACCTGCCCGCCCCTGAGTTTGCAATCCTGATCAGGTCTAAATCTCCCAGGTCCCAGATGAATAAACTGAAGCCCAGAGTTGGGAGTACTTTGCCCAAAGTCACTCAGGGTTGTTGGTCTTCATCTCATCCATGATGGGTCAGGCATGGAGGCAGGGGTGGGGGCAGGCAGGACTTCCTCCCATCACCAAATCCTTTTCACCTGCAGCAAATTCTCACCCCATTTTCTTTTCCTGGGTTTTTCCACCAAGTCAAGCCGGCTCCCCCTTTCAACGTGACTGTGACCTTCTCAGGACAGTATAATATCTCCTGGCGCTCAGATTACGAAGACCCTGCCTTCTACATGCTGAAGGGCAAGCTTCAGTATGAGCTGCAGTACAGGAACCGGGGAGACCCCTGGGCTGTGGTGAGGAATGTGGGGATCAGTGCAGCTTTGTGGGAGGGGAGGGGAGATGACGGAGTGCAAAGGCATCTGGGTGGGAGAGACGGGTGAACAACATCATTCATGGCCAAGAACAGAGACCAAGGGCACGAGCACTCCCTTACAGCGGGCCCTCCTCCTCCCCTCACTTCTCCCCAAGGTAGGAGACCCCTGAATAATCTGTCCTCCCCAAACTGGTCTCCTCGGCGGTCAGCATGCCAAAGAGACTGTCCCTTCCCCAGACTCCACCCCAGGTCTAGCATAGTCACAATAGAAGAAGTTTCAGAAATGGGGCAACCTGGAAGCTTCCCAATTGCTTAGAATGGCCATAGTTGGAGAGTTCCAGAAATATCAATTATTAAGAAGGTCCAGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGAGGCCAAGGCAGGTGGATCTCTTGAGGTCAGGAGTTTGAGACCAGCCAGGGCAACATGGTGAAACTCTGTTTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGACATGCACCTGTAATCCAGCTATTCTGGAGGCTTAGGCAGGAGAATCACTTGAATCCAGGAGGCGGAGGTTGCAGTGAGCTGGGATCGCGCTACTGCACTCTAGCCTGGGCAACAGAGTGAGACTCGATCTCAAAAAAAAAAAAAAGGTCCAGTGTTAGAGGGCCCATTGTTTCAAACATGAAGGTGTTGAGTGATGTCCTTCCAGCCCACTATTTAGAACAGTCACAAGTGATGTACTGTCTCTAAAAAATAAAAAATAGTAACAATGATAGAACAGTCACAGCTGAAGAGTTCTAGAATTGCCCATCCTTTAGGATAGTCCCAGCTGAAGATGTCCATGAGTGCCATACTTTAGAAAGTCCCCAGTGGAAGACTTCCAGAGGTATCCATTGCTAAGATGTCTGTAGTTAGAGTTCTAGAAATGCCTGCTGTTGGGAATGTCAGTATGTCAACTCTTGGAATTCTTCAACAGTTGAAGACATTCTCCACTGATGTACTGAGACTTATATCAGTAGTACATCGGTTGAGAATGTCCTCAACTGTTGAAGAATTCCAAAAGTATGCATTGCCTGGAATGCTGCCAGACCATTACCACTCCTGAGATATGCCCAGTCCTGCAGGGAGAGTCCACTGCCAGGACTGTGAGTGGCTGAATTGGATCAAAGAGAAATCAAACAGAGCATCCTATCACATGCACGGGCCAGGCAGTGCTGGTGAGTCTGTGCTCCCCATGCCTGAGTCCAGCTACTCAGGCATAGGCTTGATTCTTGTGGGAAGAGAAGAGACACTCAGCCCCTTTGATGGAAGCTGGGAAAAGAGGTGGCTCTGCTGGAGGCAGGGGCTGGCCTGGTTTAACCCTGACCTGGTGCATCCTTTCCTTGTACTGGCAGAGTCCGAGGAGAAAGCTGATCTCAGTGGACTCAAGAAGTGTCTCCCTCCTCCCCCTGGAGTTCCGCAAAGACTCGAGCTATGAGCTGCAGGTGCTGGCAGGGCCCATGCCTGGCTCCTCCTACCAGGGGACCTGGAGTGAATGGAGTGACCCGGTCATCTTTCAGACCCAGTCAGAGGGTAGGTGTGAAGCTGGGATGGACACCCCACTCCTGGTATCAAATTTTGTCCTGTTCTAGCCACCCTAAGCCCTGAGCTTTCTGGCACAGCTGGGAGGTATTCAGTTGTTCATCCTCAGATGTAGCCCTTCAATTACATTTCTAGAGCCCCTGCTGGCCAGGCCCTGTTGGGTGCCAGCTGCTTCTTCTGTTAGGCATTTGATCCCCCTAACTCTGAAGTGGGAATCAGCCCTGTTTTTCAGACGAGATAACTTAGGCTCAGAGAAATGAAGTTACTTGCCTGGGGTGAGGAATGAGAACAAGATTTGAACCCAGATCCATCTCACTTCAAGACACTAGCAGTAACAGCCTCTCCTACCCTCTTCCACTCTACCCCAGACCCATTTCCCACCATGCCCACCCCATATGGCCTCTGGTAGAGTTGGTGCCATTTAACCCTTTCTTTGCTTCCTTCCCAGAGTTAAAGGAAGGCTGGAACCCTCACCTGCTGCTTCTCCTCCTGCTTGTCATAGTCTTCATTCCTGCCTTCTGGAGCCTGAAGACCCATCCATTGTGGAGGTGAGGCCAGGGGATGAGGAAGGCAGGGAGGTGGTCAGCCTGGGCCACTGCCCCTGTATGATACATGCAGGGTTGGAAAACATGACTGTCATCATGGTAACAATGATGATGATGGGATAATAACCAACTCACAGCCACCATGTGCTGGACACTGTGGAGGGCACTCCCTTCACCCCCATGGCTGCCCTATGAGCTTGAGACACTGCAGTTGCCCTTATTTTACAAATGGAGAAACTGAGGCAAGGAGATGTCAAGGACAAAGTCACACAGCTCCAAGGTGGAGAAATTGGGATTGAAAATCTGTGCCCTTAAACAGGGACCTCAGCTGTGATCTTGTCCAGTGGATTTTAAGCTTTGAGGCTTAATGGGCTTAAGGGGCCACTAGGTGGTGGTGAAGAGGTGGCTGTAATAGTCCACACCTCTGAAATGGCCTCTCTGCGCACCCCTGGTTGCAGATAAAGAAGTTGAGGCTCAGAAGGGGCAACATTTGCCCAGCACGCAACAGGCAGCCAAGAACATAACCACGATATCCCTTCAGGAGCCTGTGAGGGAGACTTACTTCTCCCATTTTACAGAAGGGGAAACCAAGCCCCAGGGAAGGAGGGAGGCGCCTGGGCTGAGTCTTGGGATGCTCGGAAGCTCCTGTAGGATGAAGCTGGGGAGCGTCCGAATGGGAGGCCAGGCTGCCCTCTGGTGATGTCAGGGTCCTCACCCCTCTCTGCCCCCTCAGGCTATGGAAGAAGATATGGGCCGTCCCCAGCCCTGAGCGGTTCTTCATGCCCCTGTACAAGGGCTGCAGCGGAGACTTCAAGGTGAGCTCCCGACCCTGTGATGAGCTCCTCGGAGCCCCTCCTCCTCTTCAGGAGCCCCACCTCCCCTCACCCCAGGCTCCCCAGCCTCACCCCACAGGCCTAGAGCATCCAGGTCTCAGCCAAGCCACAAGCCAGGCCTCAGTTTCCCCATGTGCAAAGTGTAGACAGTCATTCTTGTGGTGCAGAATTGGCAGAAGAATTAAACAAGATTTGACCAGGTGTGGTGGCTGACATCTGCAATCCCAGCACTTTGGGAGGCCAAAGCAAGTGGACTGCTTGAGGCCAGGAGTTCAAAAACAGCCTGGGCAACATAGGGAGACCCTCACCACCACTCCGCCTCCCCATCTCTACCAAAAACTTAAAAATCATTCAAGTGAGGTGGTGCACGCCTGTAGTCCCAGCAACTCGGGAGGCTGAGGCAGGACGATCGTTCAGAGGCTGCCGTGAGCTATGATCACACCACTGCCCTCCAGCCTGGCCAACAGACAGAGACTATATCTTAAAAAAAAAAAAATCAAAAAGAAAAAGTAAACAAAATAATGCAGCATTGGCCCAGCCCAAGGAACCAGACTGGGATAGGGGGTGAGGCTGGTGG
|
Task1_train_22498
|
A variant found in Chromosome 16 affects CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Neuronal ceroid lipofuscinosis 3
|
GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTACCTGCAGGGGCTGTGGATTTGTAACCTTGAAACAATGAATGCTGGTTATATGAAACTCCTTTTATTAGACTGTTGTAAGGAAGGGTGTTTGCGCCCTTAAAGCTGTAAACTACTGTTTGCCAAGGGCAGTTGAATTTGCTCACCACCCTCAAGATAAATAACCCACTGACTTCAAAGTCACCAATTCTATTATAATTAACTATCTAGAATAAAAGAACTGTACATTTTCTTATAGTTAGAAACATTATTTGAAAGCCTGTCTCTTTGCCTGAGGTAAATGACCTATGATCATGCCACTGTACTCCAGCCTAGGCGACAGAGGAAGGTTCCGACTTTTCCTTTCTTTTTTCTTTTTCTGGGAGACAGGGTCTCGCTCTATTGCCTAGGCTGGAGTGCAGTGGCATGACCTTGGTTACTGCAGCCTTGACCTCATGGGTTCAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTAAGACTACAGGTGTGCGCCACTGCACCTGGCTAATTTTTGTAGAGATGTGATTGTGCCATGTTGCCCAGGCTGGACTTGAACTACCAAGCTCAAATGATCCACCTGCCTCAGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACCTGGCCCGGCCCAATCCCAATGCTTAAAACACACACACACACACACACACACACACACACACACGCACACACACACACACACACACTACAAAATCTTGTTCTTCGATTCTTTCTCTCATCTCTATTTCTTACAACTACCCTGAAAAATAGGTATTGGCCACACCCAATTTATACATGAGGAAATTGAGGCTCAGAGAGGTTCTGAGACCTGCCCTAAGTCACACAGTGGCTGAGTACTGAAGCTCAGTTTTGCTTGGCTCCTGAGGCTATACATTTTACATGGAGCTCTGCTGGACTTTGGTTCCCTGTGCTAAGAAATGATAGTGTACAATTTACACTTCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCAATATGGCAAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATTTACACTTCCCACTGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGGCAGCTGCATCACCACGGCGCCCTCCCAGCCCACTGCCCTCGCTCCTCTTACCAGCGGTATTGCTGAGCGTGACTCAGGGAAGTGTTCCAGAAAAAGAGGAGTTCAAACTGCAACAAATACCAGACAGGGGAGATGGACGGGGCTGTGTGGGTCCCAGCCCCAATCGCCACCTCCACACCCCTCCTAGCACCCCTCACTTACAAGTCCCTGGTTAATGAAATACTCGGCAAAGTAAACTACGACCAAGGGAACAATGTACCACAGCAGACCCTGGAAAAGGCAGAAGATATAAGCGGGGGGCCTGGAGGTGAGCAAGCCCCACAGGGACATACCCCAGCCATCATCCGAACCTTGAACACTGTCCACCTTTCCCGAAGGGAGAGGCTGGAGCTGGAGCCTGCAGGGGAACAGAGAGAGAAGGGCAGATGAAGTTTTCACACTGAAGACTCGGCAAAGAGGCACCGGTATGACAGAATTAACCAGACCACGCAACAGTGGGAACTCACTTCCATGCCACTGGATTGGACACTTAAAAATGGTTAAAATGGCTGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAGACTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCATGTGTGGTGGCAGGTGTCTGTAGTCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAATAAAGTAAGATAAAAAATAATAAAATGGTAAACTTCAAGTAATATACATACTTTATCATGATGAAAATAAAAGCTAACCAGGTGAGACCTCTTCACGTCTCTTTGATTTTTAATTTTTTTTATTTTTTGAGACAGAGTCTCACTCAGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGACTGGTCTCAAACTCTTGATCTCAAATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAACCACCACGCCCGGCCAATGTCTCTTGTACAGCTCCACAGATGGCCATTGGCCCACCCTGCCCAGTCTCACTGGCCATTCTCTGGTTCTAGAACATCCCAGCTTATCCCCACCGCAGGGCCTCAGCACTTGTGATTGGAATGCCTGGCACATGGTAAGTACTCAATTAATATCCCTTCTTCTCTCCCTCCCTTCCTTCCTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAAGGTCTTGCTCTGTTGCCCAGGCTGGACTCAGACTTCTGAGCTCAAGTGGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATATTACAGGCGTGAGCCACTGTGCTCGTCCTCAACAAGTATTTCTCAAATAGACAAAGGCTTTTCCCATAACCAGTACACTCACTCTCTTTCCCCTCTTAACTTTGCCTATTGCAGAGAGGAAAAGGCCAAACCCAGAGAGAAAGAAAGTGACCTCTCTGAGGGTCTGTGTCTCCTACCTGGCTTCGACTCCGGGGCCTCGGTTCTTATGAGGGGCTGCCGGGCTGCGCTCTCTGCTTCTTCTTCCCCTCCAGGGTCCTGGGCCTCAGGAGATGTGAGCAACAAGAAATAGCTAGGAGTAGGATGAAGGCAGGGTCAGAAAACCCTACTGGCTGGGAAGGTCCCCAGGGACCATCTAGGCCACTTTTCCCAGGGAACACCTCTACCTTTGAACACTTTCAAAGATGGGTAGCTCACTGCCTCTAAGGCTCCTACGCTGTGCGGGAGAGCTCCAATTGTGGACAAAGGCTTCTTTCTTTGGACCTGAATTTATCTCCTTATTCCTATTCATGGGCCTTCATTTTGTTTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCG
|
GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTACCTGCAGGGGCTGTGGATTTGTAACCTTGAAACAATGAATGCTGGTTATATGAAACTCCTTTTATTAGACTGTTGTAAGGAAGGGTGTTTGCGCCCTTAAAGCTGTAAACTACTGTTTGCCAAGGGCAGTTGAATTTGCTCACCACCCTCAAGATAAATAACCCACTGACTTCAAAGTCACCAATTCTATTATAATTAACTATCTAGAATAAAAGAACTGTACATTTTCTTATAGTTAGAAACATTATTTGAAAGCCTGTCTCTTTGCCTGAGGTAAATGACCTATGATCATGCCACTGTACTCCAGCCTAGGCGACAGAGGAAGGTTCCGACTTTTCCTTTCTTTTTTCTTTTTCTGGGAGACAGGGTCTCGCTCTATTGCCTAGGCTGGAGTGCAGTGGCATGACCTTGGTTACTGCAGCCTTGACCTCATGGGTTCAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTAAGACTACAGGTGTGCGCCACTGCACCTGGCTAATTTTTGTAGAGATGTGATTGTGCCATGTTGCCCAGGCTGGACTTGAACTACCAAGCTCAAATGATCCACCTGCCTCAGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACCTGGCCCGGCCCAATCCCAATGCTTAAAACACACACACACACACACACACACACACACACACACGCACACACACACACACACACACTACAAAATCTTGTTCTTCGATTCTTTCTCTCATCTCTATTTCTTACAACTACCCTGAAAAATAGGTATTGGCCACACCCAATTTATACATGAGGAAATTGAGGCTCAGAGAGGTTCTGAGACCTGCCCTAAGTCACACAGTGGCTGAGTACTGAAGCTCAGTTTTGCTTGGCTCCTGAGGCTATACATTTTACATGGAGCTCTGCTGGACTTTGGTTCCCTGTGCTAAGAAATGATAGTGTACAATTTACACTTCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCAATATGGCAAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATTTACACTTCCCACTGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGGCAGCTGCATCACCACGGCGCCCTCCCAGCCCACTGCCCTCGCTCCTCTTACCAGCGGTATTGCTGAGCGTGACTCAGGGAAGTGTTCCAGAAAAAGAGGAGTTCAAACTGCAACAAATACCAGACAGGGGAGATGGACGGGGCTGTGTGGGTCCCAGCCCCAATCGCCACCTCCACACCCCTCCTAGCACCCCTCACTTACAAGTCCCTGGTTAATGAAATACTTGGCAAAGTAAACTACGACCAAGGGAACAATGTACCACAGCAGACCCTGGAAAAGGCAGAAGATATAAGCGGGGGGCCTGGAGGTGAGCAAGCCCCACAGGGACATACCCCAGCCATCATCCGAACCTTGAACACTGTCCACCTTTCCCGAAGGGAGAGGCTGGAGCTGGAGCCTGCAGGGGAACAGAGAGAGAAGGGCAGATGAAGTTTTCACACTGAAGACTCGGCAAAGAGGCACCGGTATGACAGAATTAACCAGACCACGCAACAGTGGGAACTCACTTCCATGCCACTGGATTGGACACTTAAAAATGGTTAAAATGGCTGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAGACTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCATGTGTGGTGGCAGGTGTCTGTAGTCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAATAAAGTAAGATAAAAAATAATAAAATGGTAAACTTCAAGTAATATACATACTTTATCATGATGAAAATAAAAGCTAACCAGGTGAGACCTCTTCACGTCTCTTTGATTTTTAATTTTTTTTATTTTTTGAGACAGAGTCTCACTCAGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGACTGGTCTCAAACTCTTGATCTCAAATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAACCACCACGCCCGGCCAATGTCTCTTGTACAGCTCCACAGATGGCCATTGGCCCACCCTGCCCAGTCTCACTGGCCATTCTCTGGTTCTAGAACATCCCAGCTTATCCCCACCGCAGGGCCTCAGCACTTGTGATTGGAATGCCTGGCACATGGTAAGTACTCAATTAATATCCCTTCTTCTCTCCCTCCCTTCCTTCCTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAAGGTCTTGCTCTGTTGCCCAGGCTGGACTCAGACTTCTGAGCTCAAGTGGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATATTACAGGCGTGAGCCACTGTGCTCGTCCTCAACAAGTATTTCTCAAATAGACAAAGGCTTTTCCCATAACCAGTACACTCACTCTCTTTCCCCTCTTAACTTTGCCTATTGCAGAGAGGAAAAGGCCAAACCCAGAGAGAAAGAAAGTGACCTCTCTGAGGGTCTGTGTCTCCTACCTGGCTTCGACTCCGGGGCCTCGGTTCTTATGAGGGGCTGCCGGGCTGCGCTCTCTGCTTCTTCTTCCCCTCCAGGGTCCTGGGCCTCAGGAGATGTGAGCAACAAGAAATAGCTAGGAGTAGGATGAAGGCAGGGTCAGAAAACCCTACTGGCTGGGAAGGTCCCCAGGGACCATCTAGGCCACTTTTCCCAGGGAACACCTCTACCTTTGAACACTTTCAAAGATGGGTAGCTCACTGCCTCTAAGGCTCCTACGCTGTGCGGGAGAGCTCCAATTGTGGACAAAGGCTTCTTTCTTTGGACCTGAATTTATCTCCTTATTCCTATTCATGGGCCTTCATTTTGTTTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCG
|
Task1_train_22499
|
Assess the clinical impact of this variant on gene CLN3 (CLN3 lysosomal/endosomal transmembrane protein, battenin), found on Chromosome 16. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Retinal dystrophy
|
GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTACCTGCAGGGGCTGTGGATTTGTAACCTTGAAACAATGAATGCTGGTTATATGAAACTCCTTTTATTAGACTGTTGTAAGGAAGGGTGTTTGCGCCCTTAAAGCTGTAAACTACTGTTTGCCAAGGGCAGTTGAATTTGCTCACCACCCTCAAGATAAATAACCCACTGACTTCAAAGTCACCAATTCTATTATAATTAACTATCTAGAATAAAAGAACTGTACATTTTCTTATAGTTAGAAACATTATTTGAAAGCCTGTCTCTTTGCCTGAGGTAAATGACCTATGATCATGCCACTGTACTCCAGCCTAGGCGACAGAGGAAGGTTCCGACTTTTCCTTTCTTTTTTCTTTTTCTGGGAGACAGGGTCTCGCTCTATTGCCTAGGCTGGAGTGCAGTGGCATGACCTTGGTTACTGCAGCCTTGACCTCATGGGTTCAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTAAGACTACAGGTGTGCGCCACTGCACCTGGCTAATTTTTGTAGAGATGTGATTGTGCCATGTTGCCCAGGCTGGACTTGAACTACCAAGCTCAAATGATCCACCTGCCTCAGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACCTGGCCCGGCCCAATCCCAATGCTTAAAACACACACACACACACACACACACACACACACACACGCACACACACACACACACACACTACAAAATCTTGTTCTTCGATTCTTTCTCTCATCTCTATTTCTTACAACTACCCTGAAAAATAGGTATTGGCCACACCCAATTTATACATGAGGAAATTGAGGCTCAGAGAGGTTCTGAGACCTGCCCTAAGTCACACAGTGGCTGAGTACTGAAGCTCAGTTTTGCTTGGCTCCTGAGGCTATACATTTTACATGGAGCTCTGCTGGACTTTGGTTCCCTGTGCTAAGAAATGATAGTGTACAATTTACACTTCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCAATATGGCAAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATTTACACTTCCCACTGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGGCAGCTGCATCACCACGGCGCCCTCCCAGCCCACTGCCCTCGCTCCTCTTACCAGCGGTATTGCTGAGCGTGACTCAGGGAAGTGTTCCAGAAAAAGAGGAGTTCAAACTGCAACAAATACCAGACAGGGGAGATGGACGGGGCTGTGTGGGTCCCAGCCCCAATCGCCACCTCCACACCCCTCCTAGCACCCCTCACTTACAAGTCCCTGGTTAATGAAATACTCGGCAAAGTAAACTACGACCAAGGGAACAATGTACCACAGCAGACCCTGGAAAAGGCAGAAGATATAAGCGGGGGGCCTGGAGGTGAGCAAGCCCCACAGGGACATACCCCAGCCATCATCCGAACCTTGAACACTGTCCACCTTTCCCGAAGGGAGAGGCTGGAGCTGGAGCCTGCAGGGGAACAGAGAGAGAAGGGCAGATGAAGTTTTCACACTGAAGACTCGGCAAAGAGGCACCGGTATGACAGAATTAACCAGACCACGCAACAGTGGGAACTCACTTCCATGCCACTGGATTGGACACTTAAAAATGGTTAAAATGGCTGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAGACTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCATGTGTGGTGGCAGGTGTCTGTAGTCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAATAAAGTAAGATAAAAAATAATAAAATGGTAAACTTCAAGTAATATACATACTTTATCATGATGAAAATAAAAGCTAACCAGGTGAGACCTCTTCACGTCTCTTTGATTTTTAATTTTTTTTATTTTTTGAGACAGAGTCTCACTCAGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGACTGGTCTCAAACTCTTGATCTCAAATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAACCACCACGCCCGGCCAATGTCTCTTGTACAGCTCCACAGATGGCCATTGGCCCACCCTGCCCAGTCTCACTGGCCATTCTCTGGTTCTAGAACATCCCAGCTTATCCCCACCGCAGGGCCTCAGCACTTGTGATTGGAATGCCTGGCACATGGTAAGTACTCAATTAATATCCCTTCTTCTCTCCCTCCCTTCCTTCCTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAAGGTCTTGCTCTGTTGCCCAGGCTGGACTCAGACTTCTGAGCTCAAGTGGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATATTACAGGCGTGAGCCACTGTGCTCGTCCTCAACAAGTATTTCTCAAATAGACAAAGGCTTTTCCCATAACCAGTACACTCACTCTCTTTCCCCTCTTAACTTTGCCTATTGCAGAGAGGAAAAGGCCAAACCCAGAGAGAAAGAAAGTGACCTCTCTGAGGGTCTGTGTCTCCTACCTGGCTTCGACTCCGGGGCCTCGGTTCTTATGAGGGGCTGCCGGGCTGCGCTCTCTGCTTCTTCTTCCCCTCCAGGGTCCTGGGCCTCAGGAGATGTGAGCAACAAGAAATAGCTAGGAGTAGGATGAAGGCAGGGTCAGAAAACCCTACTGGCTGGGAAGGTCCCCAGGGACCATCTAGGCCACTTTTCCCAGGGAACACCTCTACCTTTGAACACTTTCAAAGATGGGTAGCTCACTGCCTCTAAGGCTCCTACGCTGTGCGGGAGAGCTCCAATTGTGGACAAAGGCTTCTTTCTTTGGACCTGAATTTATCTCCTTATTCCTATTCATGGGCCTTCATTTTGTTTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCG
|
GTACAGTACTGCAATCTCGGCTCACTGCAACCTCCATATCCGGAGTTCAAGCAATTCTCCTGCCTCAGCCTAGCGAGTAGCTGAGATGACAGGCAGGTGCCACCACGCCCAACTAATTTTTGCATTTTTAATAGAGACGGGGTTTCACTGTGTTGGCCAGACTGGTCTCAAACTCCTGATCCTGACCTCAGGTGATTCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCAGGACTGGCCAAGTTCCTAAATTTCAAAGGCAGAAGACTTTCCTGTCACAGTTGACAGTTTATTGTAACAGTTACCTGCAGGGGCTGTGGATTTGTAACCTTGAAACAATGAATGCTGGTTATATGAAACTCCTTTTATTAGACTGTTGTAAGGAAGGGTGTTTGCGCCCTTAAAGCTGTAAACTACTGTTTGCCAAGGGCAGTTGAATTTGCTCACCACCCTCAAGATAAATAACCCACTGACTTCAAAGTCACCAATTCTATTATAATTAACTATCTAGAATAAAAGAACTGTACATTTTCTTATAGTTAGAAACATTATTTGAAAGCCTGTCTCTTTGCCTGAGGTAAATGACCTATGATCATGCCACTGTACTCCAGCCTAGGCGACAGAGGAAGGTTCCGACTTTTCCTTTCTTTTTTCTTTTTCTGGGAGACAGGGTCTCGCTCTATTGCCTAGGCTGGAGTGCAGTGGCATGACCTTGGTTACTGCAGCCTTGACCTCATGGGTTCAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTAAGACTACAGGTGTGCGCCACTGCACCTGGCTAATTTTTGTAGAGATGTGATTGTGCCATGTTGCCCAGGCTGGACTTGAACTACCAAGCTCAAATGATCCACCTGCCTCAGCCTCCCATAGTGCTGGGATTACAGGCATGAGCCACCTGGCCCGGCCCAATCCCAATGCTTAAAACACACACACACACACACACACACACACACACACACGCACACACACACACACACACACTACAAAATCTTGTTCTTCGATTCTTTCTCTCATCTCTATTTCTTACAACTACCCTGAAAAATAGGTATTGGCCACACCCAATTTATACATGAGGAAATTGAGGCTCAGAGAGGTTCTGAGACCTGCCCTAAGTCACACAGTGGCTGAGTACTGAAGCTCAGTTTTGCTTGGCTCCTGAGGCTATACATTTTACATGGAGCTCTGCTGGACTTTGGTTCCCTGTGCTAAGAAATGATAGTGTACAATTTACACTTCCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCCGGCAGATCACCTGAGGTCAAGAGTTCAAGACCAGCCAATATGGCAAAATCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTATGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGACTGAGGCAGGAGAGTCACTTGAACCCGGGAGGCAGAGGTTGCAGTAAGCCAAGATTGCGCTACTGCACTCCAGCCTGGACGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAATTTACACTTCCCACTGATAGTGGGAAGCAGGGGGTTTGGGGAAGCTGGGAGCCAAGCTGGGAGCCAAGGTGGGAGTGAAGTGAGGGGCAGGGGTTTGGTACCTGCAGCAGGGCCAGGGCCCAGGTGAAACGGATGCGACAGCAGCGGAGAGAAGAGCGGGAGGCAAAGACGCCAGCCTGGTACAGCATCTGGTACCTGAGGTTAGGGTTGGGGGGAGGAGAGGAGGCTCCTCCAGGGACCATCCCGCTCCCCCCGGTGCCTACTGGGCAGGGCAGCTGCATCACCACGGCGCCCTCCCAGCCCACTGCCCTCGCTCCTCTTACCAGCGGTATTGCTGAGCGTGACTCAGGGAAGTGTTCCAGAAAAAGAGGAGTTCAAACTGCAACAAATACCAGACAGGGGAGATGGACGGGGCTGTGTGGGTCCCAGCCCCAATCGCCACCTCCACACCCCTCCTAGCACCCCTCACTTACAAGTCCCTGGTTAATGAAATACTTGGCAAAGTAAACTACGACCAAGGGAACAATGTACCACAGCAGACCCTGGAAAAGGCAGAAGATATAAGCGGGGGGCCTGGAGGTGAGCAAGCCCCACAGGGACATACCCCAGCCATCATCCGAACCTTGAACACTGTCCACCTTTCCCGAAGGGAGAGGCTGGAGCTGGAGCCTGCAGGGGAACAGAGAGAGAAGGGCAGATGAAGTTTTCACACTGAAGACTCGGCAAAGAGGCACCGGTATGACAGAATTAACCAGACCACGCAACAGTGGGAACTCACTTCCATGCCACTGGATTGGACACTTAAAAATGGTTAAAATGGCTGGGCGCAGTGGCTCATGCTTGTAATCCCAGCACCTTGGGAGACTGAGGTGGGCGGATCACCTGAGGTCAGGAGTTCAAGACCACCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCATGTGTGGTGGCAGGTGTCTGTAGTCCCAGCTACTCGGGTGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCTGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCACCTCAAAAAAATAAAGTAAGATAAAAAATAATAAAATGGTAAACTTCAAGTAATATACATACTTTATCATGATGAAAATAAAAGCTAACCAGGTGAGACCTCTTCACGTCTCTTTGATTTTTAATTTTTTTTATTTTTTGAGACAGAGTCTCACTCAGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTCAGCTCACTGCAGCCTCTGCCTCCTGGGTTCAAGTGATTCTCGTGCCTCAGCTTCCCAAGTAGCTGGGACTACAGGCATGCACCACCACACCTGGCTAATTTTTTTATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGACTGGTCTCAAACTCTTGATCTCAAATGATCCATCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAACCACCACGCCCGGCCAATGTCTCTTGTACAGCTCCACAGATGGCCATTGGCCCACCCTGCCCAGTCTCACTGGCCATTCTCTGGTTCTAGAACATCCCAGCTTATCCCCACCGCAGGGCCTCAGCACTTGTGATTGGAATGCCTGGCACATGGTAAGTACTCAATTAATATCCCTTCTTCTCTCCCTCCCTTCCTTCCTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGCGACAAGGTCTTGCTCTGTTGCCCAGGCTGGACTCAGACTTCTGAGCTCAAGTGGTCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATATTACAGGCGTGAGCCACTGTGCTCGTCCTCAACAAGTATTTCTCAAATAGACAAAGGCTTTTCCCATAACCAGTACACTCACTCTCTTTCCCCTCTTAACTTTGCCTATTGCAGAGAGGAAAAGGCCAAACCCAGAGAGAAAGAAAGTGACCTCTCTGAGGGTCTGTGTCTCCTACCTGGCTTCGACTCCGGGGCCTCGGTTCTTATGAGGGGCTGCCGGGCTGCGCTCTCTGCTTCTTCTTCCCCTCCAGGGTCCTGGGCCTCAGGAGATGTGAGCAACAAGAAATAGCTAGGAGTAGGATGAAGGCAGGGTCAGAAAACCCTACTGGCTGGGAAGGTCCCCAGGGACCATCTAGGCCACTTTTCCCAGGGAACACCTCTACCTTTGAACACTTTCAAAGATGGGTAGCTCACTGCCTCTAAGGCTCCTACGCTGTGCGGGAGAGCTCCAATTGTGGACAAAGGCTTCTTTCTTTGGACCTGAATTTATCTCCTTATTCCTATTCATGGGCCTTCATTTTGTTTTGATTTTTTTCAGAGACAGGGTCTTTCTCCAGCATCCAGGCTGGAATGCAGTGGTGCAATCATAGCTCACTGCAGCCGCGACCTCCCAGGCTCAAGCAATCCTCCCGCCTCAGCCTCCCAAGTAGCGGGGACTACAGGCACGTGCCACCAAGCCCGCCTCATATTTTCCATTTTTTGTATAAATGGAGTCTCG
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.