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_5400
|
Consider this mutation in CPS1 (carbamoyl-phosphate synthase 1) on Chromosome 2. Is this a benign change or a disease-causing variant?
|
Pathogenic; Pulmonary hypertension, neonatal, susceptibility to
|
GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC
|
GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCATATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC
|
Task1_train_5401
|
This sequence change occurs on Chromosome 2, altering CPS1 (carbamoyl-phosphate synthase 1). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Congenital hyperammonemia, type I
|
GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC
|
GGTAGTTCAAGGAACTTGAGAAAATTATGTAATATTTTCATTTGGGGCTTCTTATCTGAGGGATTTTGTTGTCAAACAAAAAATAAAAGGTAGGGGGGAGTTTTGTTGTCTAACACCTTACATTTAGTTCAAAAAGTGAGCAAACATTTCCTGAGTTCTTACTAAACGCAAGACACTGGGAGGATTTAAAAAAGGAATAGATTATAGATAATTGAGATACATTGTCTGCAGTTGGTAAATTCAGAATACCTAAACTGACCCGAATAGACAATGAATTATTAATCTCTGGTAAATATTAAAAGATAGTACTTATATATAGATGCTATGAGAATATAGTAGAATAGGGTTGAGGAAGCCCATTATAGTCATTCCACTGGAAAATGTGAAATAGTCACTCAAGGAAGGTGCATTTTAATAGTATAGGGCAAATGTGGTGGGAGGACGACTTGAGCCCAGGGGGTCCAGTCTGTAGTGAGCCCTATAGTGCCGCTACACTCCAGCCTGGGTAACAGAGTGAGAACCTGTTTCAAAAAGCAAAAATATATAGAGAGAGTATTGAAAAGCACAATTTTTGAGCAAACATTTATAGATACATATTCCTTTGTTATACACGTTTTTTTTTTAATTGAATGGATCCCATGTACCATTATATAGATTGTGCTTAAGAATAATAAAAATATATGGAGAGTTACTTATAGAACTAATTTCAGATAAATTTTAAATATGTAATACTTCAAATTTTCTTAAATATACCCAAAATATTTCCTTAATTTTACAGAACAATAAAATGTCTGATTTCTGGCAGTCTTTTCCATGCCCAGGCTAGACAATCTATAAACATATTGTCTAACTCTTCAAGATACCACTATGACTTGCAAATTGCATATCTGAATTGCATTAACAGGTTGTTTATTCCTGCTCTTGTAAATTTTCCCTTATTTCTAATTAAATTTGGAACAGTGTGAAAAGGTTATCTGTTTGGCTTTAGTGATCATTGAATATGTATCTTGTCACATAATTGACATGAAGATTTCCTAAACTGACATTAGTGGTAATTTGAGTCTATTTGAGGAATCACAAAAGTTTACTGAAAATAGCATTATGACTGCTATTATTTTAAATTGGAGACCAAAAATGCATAGCAATCTATTATTCTATGAAAAGATTCAAACAATGTTTATCCAGCGAAAATAACTGGGTAGGTTGCAAGATCAATTTAAGTTTAGTTCTGACATGCAACTTGTCCAAACTAAATCACCACATAATTTTTCTAATTGATTAGTGTATGATGAGCTGTAAAGATTGTGGAAAGACACATTGAATTTGTCACAGAAAGTTTAGTCTCCTCCTACGTTCAAAATCATAATCATCAGTATTTGTTATGACTCTCAAGGTTCTATTAATATTAATGCTTAGCTGTAAGGAAAGCCAACCTGTCTTGAATACTGACTGATACTCATTTACAAATAGTTTCTGTTTCAGTGTTAATATATTTCTGGTTTCTTTTTATTTGCCTTCCATTCTAAAGAACATGCGCATAAAGCAAGATCTTACTAAGAAAAGGTCTCTATGCTTCAACCTTGAATTTCTTATTTTAATACTATGGTCCAGAGCAGGTACAGGTGATTTCCTCATCAATCTCAGCAAATACAGCTGAACTCCCTGAGTGGTAAAAGACTGACCTAATGAAGATGCATTATACCAAAACCATGGAGAAAGTGAGAGAGGAAGAAAAAAAGGAACACCTTTTTTTTTTTTTAATTTGAGAGGCTTTATGATATATTTTTTGTTCTTATTTGTTTTATAAAATATATTTTACGTCCAGTTCAGTTACAAATTAAAGATACATAAGCTCTTTCTTTCAATATGAGGTCTTAAACATGTATTACAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCATATCTATGCCATTGCCAAGGTAAGATGTTACAAGGGGCCCACAGCTACTAGTTGCTTTTCCAGAATGTAGTCAGTCTGGACATTAAAATAAAACTGAATCACAAAGTGGTTTTAAATCAGGGATTTTTGGAAAATTTTTAATTCTTTTATAGTATTAAACTGGAAACATCTATAGATTTCATTAGAGTCTTTTACAATTAATGATAAATTATCATTTTTATTTGACTTTAAGCCTGGATTTAAGGGCAAATTGCAGTTTTAAAGGATGATTAAATAGATAAAATGTCCCCCTTTTTAAGTATACTTAGTACTAATACTCAAGTAGATTTGACTATATTGACTTGTCCTTTACTATTAACTTTATTACATGTTCCTTGAATGTGTAAAATTGTATTGTAGAAAGGAAGGTGCATACAATAATGTCCCTTAGTATGTGCCACTTGAGTCTAGAATAATCTTAATTTATTTGCTTCTCTTTCTGTGTTTAAAAAACAGCAACAGACTATAAAGGCCCACATGATTATAGGGTTTTCCATGTAATTATTTTATTGGTCTTACTTTCAGGAAAAAAGGCCCTACATTTCTCACTTCCCTCCACTACTTGCTTCTCATGCAAATTAAATGCCATGTTAATCTACTTTTATATTTACTGTGCTTAGAGTTTTGAAGTTTCAGCTCATCTGATTTTATAAAAGGTGACTTGGGCAGCTGGAATCTGTCTGGTCAGAAATCCCTGAAAGGCTTTTTGACATTTAAGGAAGCACAAGCGTTAATCCTCCAACAGTATCAAACCGCACTGGTTCTACAAAGCTCTACTGACCATTTTATGTTTGTGTGTGTGTATGTGTGTGCATGTGGGATGAGTCGGTGAAAACATGAACTTTCTCTTTAAAAGGATTCCCGTCTTTGTAATTTGCCTGTGTAGAAACAGAAAAATGTTGTTAGTGATTTTGAACTCATCGCAACTTTTATGTCCATATTTTGAGTCCTTAAGAGACCTGAAGGAGAGGAAGGGATATTTCCTTAATTGCATCCAATGTATATTCTCCTCGCTCTTATGGTTTCTAAATGGAAAATATTTAAGCCCTACTGAAATTCTGGGAGTTGCTATTATCTCTTGATGGACATTTTCCCATGTTGAGTTTCAAGGTAATTAGAATTTTTCTCTGGCGGTGGCGGGTGGGATAGCAGTGATAAGAAGTTATTTTAGAAAGCCATTTCACCTTCATCATTTATTATCCCTATTTCAGTCTTTTATTTAAGAAGCAGCTCATGACATTCATATGTGTGTGTGTGTGTGTATATATATATATAAAATTTTTTTCTCAGGCAAAGGACAGTAAATAGATTTTTTCCTTAAGTCTAGCAATCATGTTTCTGCCACTTTGAAGGAGATGAAAAAGGCAAGCATTTCCAAGTTCCCAGCTAAGCTGTAAAACTCAAGCAAATCTCTCATTCTTTTCTAACAGACTTATAAAAGATGAGAATCTGGGAAAAATGTGTGGAGGTTCTTTCTTTCACAGGGTACCCTATGTATGAGCAAGAAGTGCAGGGGCTGCGTGTAAATTATTGCCTGCTCGAGTGCTGGGAGAAGGAACTGATTTCTGTTTGTTAGAGGTCATCATTACTGTTCATTTCAACAGCAGCCGGGAACTTGGTGATTTTGACAGAGAGTGTAAGGACGGTGGAGGGCTGAAGGGGAAAAAGAATGAAGGGAGTGTGTAAATCTTTGCTTGCTTTCATGAGTCTTAGAAAGAGCAACTTGCTCTGAGGTCTGATTTTTACAGCAGTCTTATTTCAGGATGACTGGATCATCACCTCTTTTGATTTGGGGAGAATGCGGGGCATTATTTTTGATTTTTGGAACATTAAAGTAACCTCAAACTTGTTTGGGGGTCATTATAGACTTCATTACAGTGATGTTACATAGCAAAGCTGCAGTGCTTGGAGATGAGGTCTTAAGACTGGCAGGATCTTGCTTGCTGTTGAGAAATCATGGATTTTTTTTTTTATCCAGTCTATCATTGATGGGCGTTTGGGTTGGTTC
|
Task1_train_5402
|
Located on Chromosome 2, this mutation impacts CPS1 (carbamoyl-phosphate synthase 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; Congenital hyperammonemia, type I
|
GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT
|
GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTTGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT
|
Task1_train_5403
|
A variant found in Chromosome 2 affects CPS1 (carbamoyl-phosphate synthase 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Pulmonary hypertension, neonatal, susceptibility to
|
GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT
|
GAAATAGCCCAAAATATGTCCTTTTGATATGAAAGGTTTAACTAACTTGGTAGTTTCAAAACTTAGAGTCAAATCATTAAAAAGACTGGTATTAACTTTTAACAAAATTACCACAAATTCAATAGAAGTTGCCAGCTAAAAACTGAGAAAGTTTAGCTTAAGCACAATTGAGACAAAGTCCCAACACATTTCCATATGTTTTTCCTTTTTTTGTTTTCATATGAGGTTATAGATTCTAGCTGTGACAGTTACAGGCAAAACTTCTTTGCAGTGAATACCTCCACACAAAGCCTGGTTGAGTAAAACAAAATTATTCCCAAGGCTTATGATGGGCCTGTGGCCATGGGGATTTTTTGACCTGCTAACAAGGAATTAGCCATGAATAATTGAGAAATTATTAAATTTATGAGAAATTGTCATTGAATTATTAAATTCAAATTAAACATATAATTATTAAAATGGAAATGCAAATAAAATTGAGGTTCTTAAGTTTTTTAAATCACTGCAAATATATAAAAAATGTTTAAAGTGCCCATGCCTCTGGACTGTGAGTCCAAGTCTCTATCCATGGCACTATACTACTTCTCATGTTCAGCAATTTCTTCTTCTTTATGTTTTAAATTACATGTTCCATAAAAATAAGAAATCACTGTGATACGGTAATTGATTTTTTCATTTTAAATGCAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAGTAAGAACTAGGCATACTGTTTTCTGAAATAATTTAGAGGATTAACTTTGAGAACCAGTATATGAATATTTCACCTTACTTGATTGCAAGTCTTTTAAAACAAATTTAAAAATGAATACATTTGTGGATGATTGTCAAGTTTCACTCTCCATCACTATGGAATACATAACGTCATGTGTACATGGTGATATGAAACGTGTTTCAAAATACTTCTTAGTAAGGATACTTTCCTTGACGGAAACAAGTGAGAGCATGAAGAATGTAATGCAGCACTTTATATTTCATGTCAAACTTATATTGTGTATAGATAAGTACATCGAGTATAAGATGACCAGCTATATTTCACTAAGGTTGTGCATAATAAATCAATTTGTTGAGCACTTACTACATACAGGAACCTATGTTGAGTACTATGATGATGTCATCCATTGGATTACCTAATTGGTCATTCCTTGACCAGGTTTTCATGCCTTAGACCATGTCATCATTAGATTTTGTACGACATTTTATTTCAGCAGATTGTGTGAATCTTCAGGAATACCATTGCATCAACCCTTAAAGATCTATGTGGCATAAGTACATAGGAGATAATTCTCTGCTGTTTTAAGATAGTGCAGCCTACAGAATGGCTGTGCCATTCTATGCAATATGTTATTTGTTAGCGTTCTTGAGAAACCAACACATAAATTATTATCACTTTAATAAAATAATGGCATTGTGTTCAAACCTTAGCAGGCCTCCAAGGATGTAATAGCTCCGTGTTTGGGGCATTGTAAAACAATAATTAGCACTACTAAGGAGGCAATAGAGTTAATGTGGGAGTGGGAACATGGGGGTGAAAGGGCATTCAATGGTGGAGGGATCACCTCTTTTTAAAAAATAAGTATCTATCAAATTACCAATTCTTAATGAGTGAACAGATAGCATTTTAAAGAGAAAACAAACATCTGCATTCCATTAGACTTGCACTAGAATTCCTTCAAGAACACAATATAATCCCTATATAAGTGTAATTTAAACATCTACTTAGCAATAGAGGAGGGCAGATGGCAGTCAACTCAGCATGGCATTGACTTGAATGGCTAAGAGAGCAATTTATGTTAGTATTTTATAAACTAACTATAAAATATGCCTTGTTGTCTATAAGTTTTTGTTTATTTTTCCAGATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTTGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTATAGTCTTTTCCTTGGATATAGACTGGATGGGAGTTTTATTTCTGTGCCTCCCTTAAGAGTGTAATCAGTAGATGCACATCTCTCTTTTCCCCTCTTTGTAACTTTCAGAATAGAGAGGAATTTTTAATAATCTAAAATAATGATGCTAACATGGTAGGTCATGGCTTAAATGGGACAGTTGGTGATCAAGCAATTGAGATAATCAAAGGCCATGAATGGCCATGGCTCTCTCCTTACAATTATCCTTTGAATAAAAAGTGACAGCATGACATGGAATAAAGATACAAACTTTTATTTCATTGTTTCTAAATGAAAGCCACCATATAAAAGCAACAGGTTAATGATGGTCCAGATGTAGCACAAGTGCTTGTTCAATTCACAGAAAATGATTGCATGAGGCATGTTCAGTTTCACTTGGACATGACCCATCGAATTTATCACAGGGAGAAACAGAGTGGAGACTCATTAACTTTCTGCCTATCATATTTATTTTTTATGCAGAATCAGTTTTAATCCCTATGGGAGGAGAAATAAGCGTATTCACAGTGACATCTGAGATATAAAAGAAAGTCCCCATGGTGAGGTCTGAGACATGGGAGAAAGTCTCCATTACATAAAAAACTTTTATGCCTTTTATCCCATACCCCTTTGAAAACTGGGGACAGACACTTGTGACTTTTGTCTTCATTCATTAAAAATTCACTTTTATCTCATGGAGGGTGCTGATTCCTACCATTATATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAATGCAGTTGAATCTGGTTTTATTTTATGTT
|
Task1_train_5404
|
Assess the clinical impact of this variant on gene ERBB4 (erb-b2 receptor tyrosine kinase 4), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; not provided
|
TGGATGGATGGATGGATTTACTTGTTCAGAATAGGAAGAAACACAAATTTCTTTGGATTTTTTTCTCTAAACTTTCTCTGCCTTAATAGATATTTTTACTCTAATTAATTAATCTTATACTATTGATTCTAATTTGGTCCCAATATTTTAACATTAGAAATATTTTTTAAAAATCTAAATGACTTGGGGTAGAATTTTCAGAAAAGGGCGACTTATATCTAAGTTTCCTAATTATTGATGTGAGGCCCCCTTTACTTGGAGACTCATCTCTGTCATTTGTTCTCATCCTTCATCTCATCAGGTATTCTTTCAAAATGATACATAATAATGATGGTTCTAGTACTGGATGCAGTATATGAAGAAAGGGAATTATATAAAGTATCAAAAGATTAGTGTGTTGGATAATAAAATAATTGCATGAGAAGATGTTTCACATTTATTTACAACTTTTGACCCAAGGACCTATCCCTAAGCTTTGAATGTTTGTGTTTTTCTTTTTATTATACCAATTTATGTGCAAAGAGTTACCTTCTACTTCATATAAATAGTCTCATACTAGAAATTCCATGGAATTCAAGCCAATCCTTACTCGCATTCCTTCTTACGAAGTATACGAACTGAACAAATTTCCTTGCGTAGCAAAGGTGACATATGAAGATAATGTGCTGGCCTCTCATCATAGTCCCTGGATACCGTTGCAAGGTTCCTAATTTGCTTGGTTTGGCATTTCCACAGTCTTTATCTTAGCTCTTTTTTTAAAAATGTACTTAAATTAGTTAATTTGCTGGTTGCTTCCATATTGCTTGATTCAAAATCCAAAATGGAGTTCAGAAAAAGAACAAATAAAATTACAGCTTAAGTGCAAACTACATTTCTGAGTATCTGCCAGGTAGACATACCCAATCCAGTGTGTTTCTTCCAGTTCAATGGATTCCCTCATTGGGCCACCCCTGAAAGTATCAGTAGTTTTCCTGAACCACAGAGAACTGTCTCTTAGTTTCCCTTCTACTCTTCAGACAACCAACGGCCTATCAAGTAGTGTCATTTATGGAGAAAAAAAAATGTTGAAAAATGTAAAGGATGAGGGTGAAGATAATTTGATAGCATGAAAAATATTAGCCTCCCTTTCTTATTTTAAAGATTGTATACTTAAAGTAGTGGCCATTTCACTATATTAAAATATTTCTTGCTTAAATTCTGTGAAGAAGCTTTGATGTAAACATCTTTGCAATTAGAAATTAAAGCCAAAAATAGGGGAGCAAATATAAAGGAATCGGTCAGAGCAAAACAAAATGAAAAAAACCAAAAAGTGTTGAAAACATAATTACTAGTTATAACTTTAATGGAGATTTTTAAATTATGAAAGTTGAGTTGGCCATTCTTACTTGCTAGGACAGAAACTGCTGGGGAAAGAAACTGGATTCTCAATTTCAGACACCATCATATGTTATAGAAAATGTTATTCTTTTGTTCTAATGGAAACTTTATTATGATTTCCAGGGATGCTAAATATGCACACATCAGTTCCTGCAGATAGGAACAGATAGCATGGGTGTTTCAACCATCTGCTTTAAAAAAAAAAAAAAAAAAGAAGAGGAAGAAAGAAACAAAGAAAGAAAAAGAAAAAGAAAAAAAGTGACAGCTAGTTTGATAGTAGGCAGCATTGCCTTACATTTTCTGGTCCTTCTCTAGCTGTTTCATTCTCCTGACCAACCCATGCAGAGAAATGAAGAAACATTGTGGTTCCTCCTATCTTTCTCTTTCAGTCTTTCCCTCTAATGTTCAAGTTAGGTAAGCACATAACTATCATTGCATCTCTGTATCTTCCACTGGGAAGTGTCAAAACTACTGGCCTTGGGGTAGAAGGAAGACCACCAGAGAAAGAGAGGGGGGTGGGGAAATTGGAGCAGGTGTGTCTCTCCACCTAAAAAACCACAACTGAGCTTACACCACAGTATTCCGGTGTCTGTAAGGTGGAGGCGGCAGCACAGTGCCTGGCTTCAGGGAGAACTCAGAGAGGTATTCAGGATTCTCTGCCACAATAGGCCGGATCCGCCCATTCTGTTTATAAAAATATTTTGTGCTGTACTCCTGCAGGTAGTCTGGGTGCTGAAGGGTGCTCCGAGGTGGCAGGCTGTGGTTCCAGTAGTCAGGGTTGTCAAACGCTTTCTTGGCCTTCTCTGGCATTGACAGTATGTTGTTCTTCAGGTACTCAGCTTTTCCCAAGGTGTTGGCAAAGGTGTTGAGGTACAGTGGCTCATTCACATACTCATCCTCGGCCTTGGGTGGACCATTGGATGCATTGTGATATTCGGGATTATCCAATGCTTGAAGGTCTCCATTTTTTCTCCGAGAAACAAAAGGGTTCTCCTCCACTGGATTCAGGTATTCTAAAGGAATAAAAAAATATCAGCTAACCTCTAGTTTCTGGAAAATATTAATCAGACCAAGGTTATACATAATGGTTAGCTTCTTTGTCTAGAACAAAAAAACCCACAGATTTGTTTTCATGATTTCTCACAACAAGTATTTGTGGATCACCATTGTCTTATGAAAAAAAGAGTAAGTGGGTCAAAAATGTTTATAATAAAACAAGAAGCCAACGAGGCCAGAATCAGAATTTCTATCTCCTAAATTTTTCTTTCTTTCTAATTGCATTTGTCTCTTCTGCATATGGGGCTGGTTGTTTCAATGTTTTTGTTTTCTAAAAGTTATTTATATTAGGAAATAAGACTACCTATTAGGATTAAATAGTCTTTAAATATACAGACAACTTAACTTCTATAAAGGATATTGAAAAAACAAGAATCTATAGCTGAGTTCCATGCCAAGATGAATAGATGGAGTGAAGAAATCATGTTTTTTAGTCTCTATGGTTTGCTATGATTGCCTATACTGGTAACAAGGATTTAATTGGAGATGCTTCTGAAAAAGGTTTTACACATGGAAAAGAAAGCATCAAAGGAAAAAAATTCAACTAAAAAAGCAAATCTAACAGATAGCTAACATGCCTCTAGTTGACCTGCTTGACATTACATATACTTCTACTTAATAGTAAAGTATAATTATAATATTTCCATTGACCAATCATAATCACAAAGTAGCAAACTATCAGCTTGAATTATATAAAATAAAATAAATTTTGTATATTGAAACCAGTCAATTAGTGCCTATTTTGTACGGATCAATCTAATAAATCCATCTAGTATAGGTATTGGCCTAAAAGGTGCTAATAATTATCACCATTCTCCTGAAGCTTAATTCCACATCTATGTCTATAATATAGACTGCACATAGACATAAACACGCATGTATTGTAAGTCCTCTGACAGTCCTCTCTTTTACTATATACACAAAGCCCTAAGCTATTCCTATTTTGAATTCAAGGCATGAAGAGGGCACAATTCTTTGTTGAGAGGCCATTCTGAAACAAACTTTCTGTCTTTTATCCTTAGCCCAATAAGTAGAGAGAAAAATCCTATTAAGTGAGGATTATTTTTCTCCAAATATATATATACAGAATAGGTAAGTATTTAGCATCATTTATTCAACTTAAAGGGCAGTAATGAATATCCCACTATCATATATAGGCCTTTACAAGACACTATCATTTCATCCTCCCAATTCTGTGAAAAAGAAGTACAAGACTTATTTTTCCAGCTTTGTAGACAGAAAAATGAGATTAAATGATGTGTGCAGGATACAATTAGTGTTGGGATAGAATTCAGGTCTTCTAACTCCTCTTGCATAATCTTCTTATTCTACTGCACTGTTTTTTATTATTGCCCCTGCAGGAGTTGGGTGAACTTTATGCTTAGTAACAAGTTTTAATTTGACAAGTGTATGAAAACATTTATAAGGAATGCAGAATTTGGTCTCTCTTACCAGATTCCTTAAACTTCTTAATTGAAAGAATAGGAATGTCTACACTAAAATTCTGTACTCTCTGAGTACGAGGTTAGACTATAGCAACCTTTTATAGAAACGGAGCTTAGTGTTCAGAGATAAAATCTGAGAATACAGTGTGACTCTATAGGGTGACTTGCTTTTCTCTTCACCTTACCTTTCCTCAATGCAATCTACTTATATATTGTCC
|
TGGATGGATGGATGGATTTACTTGTTCAGAATAGGAAGAAACACAAATTTCTTTGGATTTTTTTCTCTAAACTTTCTCTGCCTTAATAGATATTTTTACTCTAATTAATTAATCTTATACTATTGATTCTAATTTGGTCCCAATATTTTAACATTAGAAATATTTTTTAAAAATCTAAATGACTTGGGGTAGAATTTTCAGAAAAGGGCGACTTATATCTAAGTTTCCTAATTATTGATGTGAGGCCCCCTTTACTTGGAGACTCATCTCTGTCATTTGTTCTCATCCTTCATCTCATCAGGTATTCTTTCAAAATGATACATAATAATGATGGTTCTAGTACTGGATGCAGTATATGAAGAAAGGGAATTATATAAAGTATCAAAAGATTAGTGTGTTGGATAATAAAATAATTGCATGAGAAGATGTTTCACATTTATTTACAACTTTTGACCCAAGGACCTATCCCTAAGCTTTGAATGTTTGTGTTTTTCTTTTTATTATACCAATTTATGTGCAAAGAGTTACCTTCTACTTCATATAAATAGTCTCATACTAGAAATTCCATGGAATTCAAGCCAATCCTTACTCGCATTCCTTCTTACGAAGTATACGAACTGAACAAATTTCCTTGCGTAGCAAAGGTGACATATGAAGATAATGTGCTGGCCTCTCATCATAGTCCCTGGATACCGTTGCAAGGTTCCTAATTTGCTTGGTTTGGCATTTCCACAGTCTTTATCTTAGCTCTTTTTTTAAAAATGTACTTAAATTAGTTAATTTGCTGGTTGCTTCCATATTGCTTGATTCAAAATCCAAAATGGAGTTCAGAAAAAGAACAAATAAAATTACAGCTTAAGTGCAAACTACATTTCTGAGTATCTGCCAGGTAGACATACCCAATCCAGTGTGTTTCTTCCAGTTCAATGGATTCCCTCATTGGGCCACCCCTGAAAGTATCAGTAGTTTTCCTGAACCACAGAGAACTGTCTCTTAGTTTCCCTTCTACTCTTCAGACAACCAACGGCCTATCAAGTAGTGTCATTTATGGAGAAAAAAAAATGTTGAAAAATGTAAAGGATGAGGGTGAAGATAATTTGATAGCATGAAAAATATTAGCCTCCCTTTCTTATTTTAAAGATTGTATACTTAAAGTAGTGGCCATTTCACTATATTAAAATATTTCTTGCTTAAATTCTGTGAAGAAGCTTTGATGTAAACATCTTTGCAATTAGAAATTAAAGCCAAAAATAGGGGAGCAAATATAAAGGAATCGGTCAGAGCAAAACAAAATGAAAAAAACCAAAAAGTGTTGAAAACATAATTACTAGTTATAACTTTAATGGAGATTTTTAAATTATGAAAGTTGAGTTGGCCATTCTTACTTGCTAGGACAGAAACTGCTGGGGAAAGAAACTGGATTCTCAATTTCAGACACCATCATATGTTATAGAAAATGTTATTCTTTTGTTCTAATGGAAACTTTATTATGATTTCCAGGGATGCTAAATATGCACACATCAGTTCCTGCAGATAGGAACAGATAGCATGGGTGTTTCAACCATCTGCTTTAAAAAAAAAAAAAAAAAAGAAGAGGAAGAAAGAAACAAAGAAAGAAAAAGAAAAAGAAAAAAAGTGACAGCTAGTTTGATAGTAGGCAGCATTGCCTTACATTTTCTGGTCCTTCTCTAGCTGTTTCATTCTCCTGACCAACCCATGCAGAGAAATGAAGAAACATTGTGGTTCCTCCTATCTTTCTCTTTCAGTCTTTCCCTCTAATGTTCAAGTTAGGTAAGCACATAACTATCATTGCATCTCTGTATCTTCCACTGGGAAGTGTCAAAACTACTGGCCTTGGGGTAGAAGGAAGACCACCAGAGAAAGAGAGGGGGGTGGGGAAATTGGAGCAGGTGTGTCTCTCCACCTAAAAAACCACAACTGAGCTTACACCACAGTATTCCGGTGTCTGTAAGGTGGAGGCGGCAGCACAGTGCCTGGCTTCAGGGAGAACTCAGAGAGGTATTCAGGATTCTCTGCCACAATAGGCCAGATCCGCCCATTCTGTTTATAAAAATATTTTGTGCTGTACTCCTGCAGGTAGTCTGGGTGCTGAAGGGTGCTCCGAGGTGGCAGGCTGTGGTTCCAGTAGTCAGGGTTGTCAAACGCTTTCTTGGCCTTCTCTGGCATTGACAGTATGTTGTTCTTCAGGTACTCAGCTTTTCCCAAGGTGTTGGCAAAGGTGTTGAGGTACAGTGGCTCATTCACATACTCATCCTCGGCCTTGGGTGGACCATTGGATGCATTGTGATATTCGGGATTATCCAATGCTTGAAGGTCTCCATTTTTTCTCCGAGAAACAAAAGGGTTCTCCTCCACTGGATTCAGGTATTCTAAAGGAATAAAAAAATATCAGCTAACCTCTAGTTTCTGGAAAATATTAATCAGACCAAGGTTATACATAATGGTTAGCTTCTTTGTCTAGAACAAAAAAACCCACAGATTTGTTTTCATGATTTCTCACAACAAGTATTTGTGGATCACCATTGTCTTATGAAAAAAAGAGTAAGTGGGTCAAAAATGTTTATAATAAAACAAGAAGCCAACGAGGCCAGAATCAGAATTTCTATCTCCTAAATTTTTCTTTCTTTCTAATTGCATTTGTCTCTTCTGCATATGGGGCTGGTTGTTTCAATGTTTTTGTTTTCTAAAAGTTATTTATATTAGGAAATAAGACTACCTATTAGGATTAAATAGTCTTTAAATATACAGACAACTTAACTTCTATAAAGGATATTGAAAAAACAAGAATCTATAGCTGAGTTCCATGCCAAGATGAATAGATGGAGTGAAGAAATCATGTTTTTTAGTCTCTATGGTTTGCTATGATTGCCTATACTGGTAACAAGGATTTAATTGGAGATGCTTCTGAAAAAGGTTTTACACATGGAAAAGAAAGCATCAAAGGAAAAAAATTCAACTAAAAAAGCAAATCTAACAGATAGCTAACATGCCTCTAGTTGACCTGCTTGACATTACATATACTTCTACTTAATAGTAAAGTATAATTATAATATTTCCATTGACCAATCATAATCACAAAGTAGCAAACTATCAGCTTGAATTATATAAAATAAAATAAATTTTGTATATTGAAACCAGTCAATTAGTGCCTATTTTGTACGGATCAATCTAATAAATCCATCTAGTATAGGTATTGGCCTAAAAGGTGCTAATAATTATCACCATTCTCCTGAAGCTTAATTCCACATCTATGTCTATAATATAGACTGCACATAGACATAAACACGCATGTATTGTAAGTCCTCTGACAGTCCTCTCTTTTACTATATACACAAAGCCCTAAGCTATTCCTATTTTGAATTCAAGGCATGAAGAGGGCACAATTCTTTGTTGAGAGGCCATTCTGAAACAAACTTTCTGTCTTTTATCCTTAGCCCAATAAGTAGAGAGAAAAATCCTATTAAGTGAGGATTATTTTTCTCCAAATATATATATACAGAATAGGTAAGTATTTAGCATCATTTATTCAACTTAAAGGGCAGTAATGAATATCCCACTATCATATATAGGCCTTTACAAGACACTATCATTTCATCCTCCCAATTCTGTGAAAAAGAAGTACAAGACTTATTTTTCCAGCTTTGTAGACAGAAAAATGAGATTAAATGATGTGTGCAGGATACAATTAGTGTTGGGATAGAATTCAGGTCTTCTAACTCCTCTTGCATAATCTTCTTATTCTACTGCACTGTTTTTTATTATTGCCCCTGCAGGAGTTGGGTGAACTTTATGCTTAGTAACAAGTTTTAATTTGACAAGTGTATGAAAACATTTATAAGGAATGCAGAATTTGGTCTCTCTTACCAGATTCCTTAAACTTCTTAATTGAAAGAATAGGAATGTCTACACTAAAATTCTGTACTCTCTGAGTACGAGGTTAGACTATAGCAACCTTTTATAGAAACGGAGCTTAGTGTTCAGAGATAAAATCTGAGAATACAGTGTGACTCTATAGGGTGACTTGCTTTTCTCTTCACCTTACCTTTCCTCAATGCAATCTACTTATATATTGTCC
|
Task1_train_5405
|
The gene ERBB4 (erb-b2 receptor tyrosine kinase 4), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; not provided
|
GAAAAATGTTGTTTTAATCGTAATGATCTGAGAAAGAAAGCAAGCTAGTGAAAGAAACGACTCAATTGGTAAGGCTTTATCGGTCTCTTTGTTGATATTCATAACTAAATGTAATGTACTGTAAAACAAAAGATAAATTTTTTCTCTGATGTGTATAGACGTGACTGCAATATAAGTTATTATTTTGTATTAGGAGTGACATAGGAGAGAAGATTTGGTTACAATGCTTACACTGGCACAAACGGGAAAAGAGGAATTAAAAGCAACTTTCTTGTGCTACATTTGTCCTGGTGGACAAAAAAAAAAAAAAAAAAACTAATGCAAAGTGATTGGTAATGCCTGTTCAGCAATAGACATTAGCTTATCTTAGTACTAGCTTGTCTAGTATAAAAATACTATCAGCAATTTTCAAGGTATGTATTCTTATTTAGCTGGGAGTCTAGATAAAGCAGACCTTATCTCTACAGGCTCTGTTTAGCTAATGAGATGACAAGAATAAAAGTATCAAGCTTTCCTTGATTTTCTTGCCAAATTATCCTCTTCTTAGGTATTAAAACCCCGAAAGAAAGGTAAAATTCTCCATTAGGGAAAGTGTTTTCTTGGTTTTACATAATTAATTTCATCAGAGCTAAATTCTGATGAGTTTAAATCATTTCCTATGCTAGTTACAGGATTAAATTATATAAGACATGCATGTTTTTAAACTTTCTTCCATAGATGTCTACCAAACAATATTTAATAGAATAAGGCTGTAAAGCTTGTTCCTTCCTTTTCCGGGAGTTCAGTTTTTATTCCTATTCTGGGAATTTTTTGGGTGTCATTTTATGTATCATTAATGTCATCTGCTTTTTTTCTCCCCAAACAAAGCTCAAATGCTCTGTATTCTATATGCATTCATTTGAAAAAATGCTTGCTAATGCCAAGATGCTAATGAGAAAACAGGTGTTTCTGAAACTATTGAAGCCAAAAAAGGTTAACCACAGTTGAGGTATCGGTTTCTTTCCAACTAAATATTGAGTAAATAGAACTATGCTTAGTGAAAAGGGCAGGCTGACCTGAACTGCAAAGAACATTTTTTATTTCCTCCCTCACTGTCAGAATGTATCACACATGTCATGAATATAAATCTGAGTAGACCTGGGTCCAAAGTCTCTTATTAATAAGATGCTTATTCACCTTCACAAGTTTGTTTCTTTGCTAACCCCGTGTAAATCAGAAGGGGAAAGCCTTAGATTATACAAGAGAGATTGCTGCATGTTAATCTCACTTAAATTAAGCCAGAAACTCCAGAGACTTCCTCAATTCTATTTAAATTAAGGGCCTGTGCTTCAAAAACACATTTATAATACATATGTGTCTGGGACATAGGAAGAAAAAAGAAAAGTAAGAGTTTGATGTAAACAAATGATCAAATTGAAAAAAGTAAACATTTATAATCTTTTTAGCTCACTATAGATTCATTTCTTCCCACTTCCCACCTTGTCCTGCTAATTTGCTCCTGACTAAAACCAGTAGACCTATTTCTATTAAATTAATTTTTAAAACTGTCAGTTTCAAGCTTTTTTCCTTCATGTTTAGATCATTTATGTAGCCTGATATTTTCCCATAAAGGTCACTAATGTTTGATATTTTCCCATAAAGGTCACTAATGTTATTACTAACATTCATGTTAGTAATGTTAGTAATAACATTATTGTGACTAATTACCTCTCTTTACGACAGGCAATTTGACTGTCATGGAGATTATAAGAATAAAAGAGTCATAATTTTGACTTCATAGCATGGAAGAGTATTACTTTATATTAATAATAGTCACAACAAAGAGGCGTTCATATGTTCCTTTCATAATTGTTTTTGAACTGTCGTATTTTTCAATACAGAGAAATGTTGTACAGATTGAGTAATCTCTGCTATTACTTTACTAAGAATGATGATGGTGATAACATTATTTTGCAGTCTTACATTTGACCATGACCATGTAAACGTCAATAGTGCAGATGGGAGGCTGAGGCAAACGTTCTCCTTTCTCTAATAAATCAGGGATTTCTCGCGTTGGAATTCCATCATAGGGTTTTCCTCCAAAGGTCATCAGTTCCCATATAGTAACTCCTATATTGGAGAAAAAATTCTTACTTAAGCATATTAACAACATATGTTGAACAAACCAGCACTATACCAGTAGTAAAAGAATACTCCTTACAGGTCAATCCAAACACCAATCAATTAAAAAAAAAAAAGCTCCATAAATTCCTGCATCCATTATGAGAACCCCAATGTCAAAATCTTTGTGGGGGAATTCAATTTTCTTATTATTGTCTTGGAATTTCTAATGGATAGAAGAGACAATTTACAGTGGATGTCAGCATATAGAATCTGTTCCCCATTTCTGCCTATAGGTAACACTAATGTTTGCTGATCCAAGTTATACCACGTTACAGTCCATAAAACAATTCATCTACTATATATACATATGTATTCAGTACCAATAAATATGCTTTTGCCAGTAAAATAAGATATTGACTAATTTTAAGATCAGCATCTTTGCTATAAAAGGCTTCCAGAATAATTACCTTATGTTACAATAAAGAATTGTGACTCTCTCTAACTTACACAAAGAAAACAGTTGAATAAAACATAGACTTCTTTAGCACATATGAGAGCCTGAGAGAGGAATGTTCCATACGTAATATATAGTACATGTGAAGTAGTCACCAACAAAATTGTGAAGGGGATAGAAAGTAGTTTATTTTTTAGGTAATAAAATGGCTTTCTTGAATCACTGGGACATTGATTTTCTCTGCAAAAGCAAATACCCTAAATGGTAGCATGCAAACAGCCAGTTTTGGTGATAATGATGGTTCTGATTTGAGCAATAATATATACACTAAATATCTTTTTTGTAATGTAATGATTATATAATTTAAGATAATATTTTCTTAGGGATAAAGATTTTTAAGTTCAGACATGGCTAGCTGGGCACAATAATATTACAAAGTGAATTTTGATTGATGTGTATATACAGTCATCTTTCAGTATAAAATCCATTAATTAGAGCTATGTTTTCTTTCCTATTGCCATCTGTAATGAATTATTTACTCAGGCTGAAGTATTTTTTAGTTTATAACAGTTATCATTGACTGATAACAAAAATACAAAGCTTAAAATATAAAACTATGTGGAATTTAAAATTATTCTTTCTAATAGAATATTAACTATTACCTGATTTTTTTGGTTAATATTTACATCTTAGGATTTTAGGTATATTGTTAACATGTACCTAGTGACAATTTAATTGACTGATTGTTATTACATCTTTAATTTTGTATATTAAGGAGAAGCTCCTAAAATCTATCATAAAAATTTTCTATGAGGCAGGCTGCAACAAGTTAAGTGGATGACTGTTCATCTCTAGATAGTCATACTTACAGAATATATATATATGTTTTATATTTTAGAATATTTTATATTTAGAATAGTTTATATTTTAGAATTATCTATTTTGTATTTTAGACAGGGTCTCAATCTGTCACTCAGAATGGAATGAAGAGGCATGATCACAGCTCACTGCACCCTCAACTTCCCCAGGCTCACATGATCTTTTCACCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATGAGCCACCATGCCTGGCTGATTTTCGTATTTTTTAGTAGATAAAGGGTTTCAGCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTTGAGCCATCTGCCCACATCGGCCTCCCTAAATGCTAGGATTACAAGCACGAGACACCGTGCGGGGCCTAGAATATATATTTAAGGAGAACACTTTATTAACTTAGGTAGGTAGTTATAAAAGATAGAGTAGATACTCTCACATTTCTAGCAGAACTCCCAACATAAGCAAGATACAAAGCAACTGTAAATCAAAATAATAGAAAATATAAAATACAAAAACAAAAGCCAAAATATAAAAAACTCTACTTCTTCTGATAATAATCCAATTATATCCTTGTAAAGGTGATGACAAGATAGGGTTAGAAAAGGATGGTTTCAAGCAAAAGAACAATGTCAGGAAAGCTAAAACAAAACATCCTCGAATTTTACTT
|
GAAAAATGTTGTTTTAATCGTAATGATCTGAGAAAGAAAGCAAGCTAGTGAAAGAAACGACTCAATTGGTAAGGCTTTATCGGTCTCTTTGTTGATATTCATAACTAAATGTAATGTACTGTAAAACAAAAGATAAATTTTTTCTCTGATGTGTATAGACGTGACTGCAATATAAGTTATTATTTTGTATTAGGAGTGACATAGGAGAGAAGATTTGGTTACAATGCTTACACTGGCACAAACGGGAAAAGAGGAATTAAAAGCAACTTTCTTGTGCTACATTTGTCCTGGTGGACAAAAAAAAAAAAAAAAAAACTAATGCAAAGTGATTGGTAATGCCTGTTCAGCAATAGACATTAGCTTATCTTAGTACTAGCTTGTCTAGTATAAAAATACTATCAGCAATTTTCAAGGTATGTATTCTTATTTAGCTGGGAGTCTAGATAAAGCAGACCTTATCTCTACAGGCTCTGTTTAGCTAATGAGATGACAAGAATAAAAGTATCAAGCTTTCCTTGATTTTCTTGCCAAATTATCCTCTTCTTAGGTATTAAAACCCCGAAAGAAAGGTAAAATTCTCCATTAGGGAAAGTGTTTTCTTGGTTTTACATAATTAATTTCATCAGAGCTAAATTCTGATGAGTTTAAATCATTTCCTATGCTAGTTACAGGATTAAATTATATAAGACATGCATGTTTTTAAACTTTCTTCCATAGATGTCTACCAAACAATATTTAATAGAATAAGGCTGTAAAGCTTGTTCCTTCCTTTTCCGGGAGTTCAGTTTTTATTCCTATTCTGGGAATTTTTTGGGTGTCATTTTATGTATCATTAATGTCATCTGCTTTTTTTCTCCCCAAACAAAGCTCAAATGCTCTGTATTCTATATGCATTCATTTGAAAAAATGCTTGCTAATGCCAAGATGCTAATGAGAAAACAGGTGTTTCTGAAACTATTGAAGCCAAAAAAGGTTAACCACAGTTGAGGTATCGGTTTCTTTCCAACTAAATATTGAGTAAATAGAACTATGCTTAGTGAAAAGGGCAGGCTGACCTGAACTGCAAAGAACATTTTTTATTTCCTCCCTCACTGTCAGAATGTATCACACATGTCATGAATATAAATCTGAGTAGACCTGGGTCCAAAGTCTCTTATTAATAAGATGCTTATTCACCTTCACAAGTTTGTTTCTTTGCTAACCCCGTGTAAATCAGAAGGGGAAAGCCTTAGATTATACAAGAGAGATTGCTGCATGTTAATCTCACTTAAATTAAGCCAGAAACTCCAGAGACTTCCTCAATTCTATTTAAATTAAGGGCCTGTGCTTCAAAAACACATTTATAATACATATGTGTCTGGGACATAGGAAGAAAAAAGAAAAGTAAGAGTTTGATGTAAACAAATGATCAAATTGAAAAAAGTAAACATTTATAATCTTTTTAGCTCACTATAGATTCATTTCTTCCCACTTCCCACCTTGTCCTGCTAATTTGCTCCTGACTAAAACCAGTAGACCTATTTCTATTAAATTAATTTTTAAAACTGTCAGTTTCAAGCTTTTTTCCTTCATGTTTAGATCATTTATGTAGCCTGATATTTTCCCATAAAGGTCACTAATGTTTGATATTTTCCCATAAAGGTCACTAATGTTATTACTAACATTCATGTTAGTAATGTTAGTAATAACATTATTGTGACTAATTACCTCTCTTTACGACAGGCAATTTGACTGTCATGGAGATTATAAGAATAAAAGAGTCATAATTTTGACTTCATAGCATGGAAGAGTATTACTTTATATTAATAATAGTCACAACAAAGAGGCGTTCATATGTTCCTTTCATAATTGTTTTTGAACTGTCGTATTTTTCAATACAGAGAAATGTTGTACAGATTGAGTAATCTCTGCTATTACTTTACTAAGAATGATGATGGTGATAACATTATTTTGCAGTCTTACATTTGACCATGACCATGTAAACGTCAATAGTGCAGATGGGAGGCTGAGGCAAACGTTCTCCTTTCTCTAATAAATCAGGGATTTCTTGCGTTGGAATTCCATCATAGGGTTTTCCTCCAAAGGTCATCAGTTCCCATATAGTAACTCCTATATTGGAGAAAAAATTCTTACTTAAGCATATTAACAACATATGTTGAACAAACCAGCACTATACCAGTAGTAAAAGAATACTCCTTACAGGTCAATCCAAACACCAATCAATTAAAAAAAAAAAAGCTCCATAAATTCCTGCATCCATTATGAGAACCCCAATGTCAAAATCTTTGTGGGGGAATTCAATTTTCTTATTATTGTCTTGGAATTTCTAATGGATAGAAGAGACAATTTACAGTGGATGTCAGCATATAGAATCTGTTCCCCATTTCTGCCTATAGGTAACACTAATGTTTGCTGATCCAAGTTATACCACGTTACAGTCCATAAAACAATTCATCTACTATATATACATATGTATTCAGTACCAATAAATATGCTTTTGCCAGTAAAATAAGATATTGACTAATTTTAAGATCAGCATCTTTGCTATAAAAGGCTTCCAGAATAATTACCTTATGTTACAATAAAGAATTGTGACTCTCTCTAACTTACACAAAGAAAACAGTTGAATAAAACATAGACTTCTTTAGCACATATGAGAGCCTGAGAGAGGAATGTTCCATACGTAATATATAGTACATGTGAAGTAGTCACCAACAAAATTGTGAAGGGGATAGAAAGTAGTTTATTTTTTAGGTAATAAAATGGCTTTCTTGAATCACTGGGACATTGATTTTCTCTGCAAAAGCAAATACCCTAAATGGTAGCATGCAAACAGCCAGTTTTGGTGATAATGATGGTTCTGATTTGAGCAATAATATATACACTAAATATCTTTTTTGTAATGTAATGATTATATAATTTAAGATAATATTTTCTTAGGGATAAAGATTTTTAAGTTCAGACATGGCTAGCTGGGCACAATAATATTACAAAGTGAATTTTGATTGATGTGTATATACAGTCATCTTTCAGTATAAAATCCATTAATTAGAGCTATGTTTTCTTTCCTATTGCCATCTGTAATGAATTATTTACTCAGGCTGAAGTATTTTTTAGTTTATAACAGTTATCATTGACTGATAACAAAAATACAAAGCTTAAAATATAAAACTATGTGGAATTTAAAATTATTCTTTCTAATAGAATATTAACTATTACCTGATTTTTTTGGTTAATATTTACATCTTAGGATTTTAGGTATATTGTTAACATGTACCTAGTGACAATTTAATTGACTGATTGTTATTACATCTTTAATTTTGTATATTAAGGAGAAGCTCCTAAAATCTATCATAAAAATTTTCTATGAGGCAGGCTGCAACAAGTTAAGTGGATGACTGTTCATCTCTAGATAGTCATACTTACAGAATATATATATATGTTTTATATTTTAGAATATTTTATATTTAGAATAGTTTATATTTTAGAATTATCTATTTTGTATTTTAGACAGGGTCTCAATCTGTCACTCAGAATGGAATGAAGAGGCATGATCACAGCTCACTGCACCCTCAACTTCCCCAGGCTCACATGATCTTTTCACCTCAGCTTCCTGAGTAGCTGGGACTACAGGCATGAGCCACCATGCCTGGCTGATTTTCGTATTTTTTAGTAGATAAAGGGTTTCAGCATGTTGCCCAGGCTGGTCTCAAACTCCTGGGTTTGAGCCATCTGCCCACATCGGCCTCCCTAAATGCTAGGATTACAAGCACGAGACACCGTGCGGGGCCTAGAATATATATTTAAGGAGAACACTTTATTAACTTAGGTAGGTAGTTATAAAAGATAGAGTAGATACTCTCACATTTCTAGCAGAACTCCCAACATAAGCAAGATACAAAGCAACTGTAAATCAAAATAATAGAAAATATAAAATACAAAAACAAAAGCCAAAATATAAAAAACTCTACTTCTTCTGATAATAATCCAATTATATCCTTGTAAAGGTGATGACAAGATAGGGTTAGAAAAGGATGGTTTCAAGCAAAAGAACAATGTCAGGAAAGCTAAAACAAAACATCCTCGAATTTTACTT
|
Task1_train_5406
|
The variant affects gene BARD1 (BRCA1 associated RING domain 1), which is on Chromosome 2. Please evaluate whether this mutation is benign or pathogenic and specify the disease if necessary.
|
Pathogenic; Hereditary cancer-predisposing syndrome
|
TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCCCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC
|
TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCTCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC
|
Task1_train_5407
|
A genetic alteration is present in BARD1 (BRCA1 associated RING domain 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Familial cancer of breast
|
TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCCCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC
|
TTAAAAAGAAAAACCTTTAAAAGCAATCCCAGCTTCTAAATGGTAAACATAACATGAATTCCTAATCTGGCATTAGACTTTTTTTTTTTTTTTGATTCAAAGACAAATATGAATGACTCTACCTATTTGTAAAAATGTGAACATTAAAAACAGTACAATGACTGGGCTCTCACAAACCGTGCAAATTCAATTTGAAATGTTCATCTGGTATAATATTCAGCTGTCAAGAGGAAGCAACTCAAAGGACATCACACAGTCTATAAACCAGCTCGAAGGAGCCTTCCAGACTTTGCCCTGCCGAACCCTCTCTGGGTGATAATTACACAAATCTTCATAGATGATATACTGTGTGCAGAAGCGCTGATCAGAATCGGGTCTCGCATGGTATGCGACTGTATTGATGGTCTGAGTCACGTCACTGTCTGGCTTGGGCTTTCTACTGAGGATCTGGCCCCCACCTGCAGTGACGAGCTTAATAAGGTTGTCCTTTGGATGGTGTTTGAAGGTTCCCCACAAATAGAAGTAGCATCCATCAAACAGCTTTGGCAACTGAAATAATGAGAAAACATTTGTTAAAGGCAGATCAAAATACTGTATTCAAAAACACTGTATATGAATGAGGAAAATAAAAATACAAGTTGAATATCCCTTACCTGAAACATTTGGAGGAGAAGCATTTCAGATTCATAAATTTTTTGGGTTTTGGAAAATTTGCATATACATGAGGTATCTTAAGGATGAGGCTCAAGCCTAAACACAAAATTCGTTTGTTTCTTGTACACCTTATGCACATAGCCTGAAGTAATTTTATACAATATCTTCAGTAATTTTGTGCATGAAACAAAATTTTGACTGTGTTCTGACCGTGACCTGTCACATGAGGTCAGGTGTGGAATTTTCCACTTGTGGCATCATGTCAAAGCTCAAAAAGTTTTGGATTTTGGAGCATTTTAGATGTTGGATTAGGAATGCTCCATCTGTAACAATTATGAGCAGCTAAGAAGCTACTTAATGAGGTGCTGGGACAAGTTATATTTCAAGCATACTAACTGGATCAAGAAAAATACTTAGGCAAATAGGGGCTTCCTATTTACAATTTTTTCCCTAAGATTCAGTCACCATCTCGGTTCCTTTTCACTCTTCTAAAATTTTAGATATGCTTGGTATAAAGAAAAAAACAAACTATTCATCAAACTTTTTTCATCAGGATGTTTATGCTTATTTGGTGGGACTTAAAGCCTCCACAACTCCTAGCTTATTTGAAATAGGCTTCAGAGACACCAGGCTAAACATTATTAAATTACAAGAGTAACATCTTTTCCGTGGACTTTTATCCAATTCTGCCCATCCACATTCAGGTCCTTACATATTACCAACCTAAGGTCTCCAGGGCAGCCACCATGGGGGTGTGCCCTCCAGGGTTCCAGAAATGTATTCACGGGGCACAAAAGATTTTTGTGCTGAGGCTAGGGATCCAATTAGCTATGAAACATACTTCCGTATGCTCGTTGGAAATAAAAAAAGTTTCATAATTCCCTTCTATGGAAATTTTCTTTGTGACTTCTAATATACTTATATAATATCAACAGGATAATGCGATATTATCCATTAAAGCTACAATATGTGGCCATAGAGACATATGGTAACTAAATCCAAGCAGCAGCTGTAAGTCTTCTTTCAAGCTACTTCCTGTATCTGAGATTTACCTCAGATTCTGAAAGGTTTATGGCAATGTTCAAGATGCCAAAAATCCATTAACAGTATGAAATTATTACCTTCTGGATTTTACTGCTCATCGTGATCATCTTTCAGAATCAAGTGCTTGAAATAAGCACAATTAAAATTTTAATCAGTCACCTGTAGCTGTTGAAAGGGCAGAAGTTCTTCCTGATGGTGATAATAATAGTATGTCATAATAAGAACAATGAAAGTTGTATTAAAAGAAAAATACCAGCTGTTCTCTGTTGAGCCTGCTTCTGCGTGGACCTTCAGGAATTTCATACTTTTCTTCCTGTTCACATACTTTTCTTCGTAGACATGCTTTTACCTCTGACAAAAACACAAGAATTAAAGCAAACTAAGTATCAAGTGAGCACTATATCTCTCTCATTAAAATCAAGCAATTTACCTAAGTGGTTTTTCTTCTTCATGGCAGTTTTTAAGTATTATTCTAAAATGCAAACAGAAATCTTACTTATGCCAAAACAAAATGTAATACAACTGGTTTTCCCATATAAAGAAAATATTTTAAAAAACTCTTTCTTTGGAGGATTAAGCCATAAGTTAGTACTGAACACTAACTGTAATTTTAATCTCCTTTCTGAAAAACCTAAGCCAGGATACTATTTCAAAGACAAAAATAAAAGTCTACATTTCCACTCATAGCAATTACCCAAAATTAAGGTGAATAAAAAGTCCATGACACAATAACCTAAACTGAGCACTTACCATCTATACTGCTCATTTTGACAGTTATATGTCTAATCGTCTGTTAAACTGTAAGTGATTTGACATGAAGGAATGTGCTTTAGTCTACAGCACCAAGCTCAGCTAGCCACACAACAGGGGTTCAACAGCGCTTCCTAAAATAAACAAGCAGAGCTTGGGATAGGTTTGGCATGTGACAGGTACACAACTGAGGTTGCTAGTCTAGAGATGATTTGATTGGGCTTTGCAGGAAAAAAAAAAGCATTCTTTTGATGGCTTGAGTAAGTCTGTTCACAGCTTCAGGTTAAAAAGCAAAAGCAATAGAGACAGCTCAGCCTGGCACTGTTTAGAGTCATTCCACTGCTTGGCACCTGGGTGGGGAATCCCTAAGTAGGGCCACTGGCTGGCAGCCAGTACCAATTGTCTCGCTAGGCTCTAGAAATGAAAGGAACCCTTGGGATTCCCAGGACCAATCATGAAGGACATGGTCAGCTTCAGCTAGAGACAACATCTTGGATAATGCCTGTTTACCACCAAGCGAGGGAACTGATGGCATGTATATATATTTATCATGCTTCTGTTCTGATGGCATATAACTAAACTAAATTTGAGATTTGCAGTTGAAGGACTTGGCTATCCCAATTACTTGTTCTGGAAGCTTCCTTGCCTATGGAAATAAAAAATGAAAACAATGTTTTTCACCGGGCTTCTGTGGATAAAATGCAAGAAGCATTCTAAAAACTAGATACTACAATGAATTATCTTCATCATAAAAACAAACCCTCCATACAATTTCCTATTTGTCTTTGAGGTTGTTTTGCTCAATACTTCATTTTATCACTGAGGGTAGGAACCATATATTATTCACCTATGCGTTCTTCAGAATTTCATACACTTTCCCATAGAACAGGAGTTTAATAGCAGAGGGTATCGGGAAAGTTGGAACAATAACTCAGGTATCCCCTTCACTGTCTAGTGTTGTTAACATAAAGGAACAAAAGTTTTTAAAAATTCACTATGGACACAGCATTGACAGATTGTATCCACATCAATAAAAATAAGTAATTATATAGCACCTGTAAGAGTTCAGAGTTACACATAGTTTTGAATATCAAACTGTTACATCCTGTTATCACTTGATATCTAATGGCTTAAAATGATCAGAAAAAAATCTATGGCTGCATAAACATATACTTTATATTGAGGATTAGACATATATGTTGGATATACTACAGTGTTTTGGAAACCTCTTGAAAAATGCTAGTGATAAAGTTTTGTCCAGCTGATCCCTACTTACTTCAACAGTAAATTGATTCCAACACAGGAGCAGAACCACTACTCGGCATGTAAACTGCATATGCCTGCAAAAGGGCTCCTTTCTTGACTAAAGGGTGGCTAAGAACCAACAGTTAATCTGCTACCCAGAACTGTCCTGCGATTGCATCTAATATAAATTAAGATTCAGTTGTGTATGAGTAAAATGTCTTTTGACCTATGATGATTTTTTTTTCTTTTTTTTTTTTTTCTGAGACAGAGTCTTGCACTGTCACCCAGGTTGGGGCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCTTTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCATGTC
|
Task1_train_5408
|
A variant on Chromosome 2 in gene ABCA12 (ATP binding cassette subfamily A member 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; not provided
|
GCAGAGCAGCTATAGAGGCCATAAACCATTGCTTCCTCAATAGAGCTCTGTGGCTAATAATTTCAGCACTCCCTCTAAAAACAGGTTCAAATATAGCATTCTCTCCGAAAGCCTGCCACCACGCACACCTTCATAGGTGATAAAATGATGGTATTCATCAACTCTGCGTATATTTTAAGTTTTCCATCAGAAATTATGCAGCACAAAAATCATGATCTTCATTTAGCTGATAAGAAAAAATACAAAGCTGCTTAATTTAAAATGAATTCCAATTAAACAGAGTGAACAAGTTTAAATGCAAACTCATATCTCTGCAAAAGGGAACTGTAGAAGGAGCTGAATATTTTCAGTTAATTAGTATGCTTTTCTGTTTCTTGAGAAATTATATGTGGATGACTTACAGGTGTATCAAATGAAATAAATGTGCTTTCTAAAAGATAATGTCAATGAAGGGAACATTTGGACTGAAGAATAGTTTCAAATTATAAGACACATGCAGAGGCACATACTTAGCCTTTGCTTCCTGCAGCAGATGACCACTTTCTAATAAAAGTCCTCAATGCCATGGAGGCCACAATTATATTCCCCAAAAGAAAAGAAATGAGAACTATGACAGAGGACAAATTAGCCTCCAGTTCCAGAATTATACAAACATCAGAGATTATCTTTCCTGACTTTGAGAGCCAGGCAAATGTTTAATTAAAAGTTCTGTTCCTAGAGATTTTTTTCTGTAAGCAAAAACTGTTGAAATGACTACTCCATGATTTATATATCATTTTACTCTATGCTTCCTTAAGTAAATGGTGTTTCCAGAGGTATAAATTAACTGTCAGAAAGAGAAGAGACAATAAAAGTTATTTTCAAAAGAGCCCAATCCCACAAAGTCGTGTCAAGCAACATGATTTTTTAAGCATATCCTATGTTAAGGATTGGGGGAGGAAATCTACTATTACAGACTCTTAGCCATCAAGTCCAAATTAATTAACTCAGAAACTCTCCCCAAAAGCAGTTTCTCAGCACCTGAAAGACTCAGAGTCACGTAGGTTAGACATGTTTTCCATTGAGGGTACCATAAAGAGCGGCAGCTCCTTTTTTTTCCTTTTTTTTTTTTTTCCTTTTTTTTATGACTATTGTCTCTACTTCAACATGTCTAATAACAAGGAGTGAACTACCTTACTTGGTAATCTTGTCCATTGTTAGCCCCGATTACAAGAAGAATTTTACCTTGCTGAACATGAACTGAAATTGTAGAAGTTACTTCTTGAAAACAATTTCTGGTGGGGAGGTGGAATACTCATCACCATGCTATCAAGAGAGTTCTTTCACATTCTTCAAAGTACTTTTGAAATAGAGAATTCGATTTGGTTTAATGAATATTTTATATCTTAAAAAAGGAGGCTTAAATTTCCTTAGTGTTTTTTGAATTTAGAATGAAACTTTAGAGTTGAATTTTTAAAAATCAAAGTCTGTCTGTGATTTTTCTCATTTATGTCATCCATTGGAATTAAACAAAATATCCACATTAGATTCATACCATCTCTGTCTGTGAAATTGCTGCTGCTCACAGATAAATCGTCAGGAGTTGAGATGCCATTGGCATTGGAATTCCCAATTTTCTTTTGTGTTAAGTGCTCAAGACTCATAGCACTATTTTTTTGTGACTCTTTGGTCAAGTTCAGAAAGACCTAGAAAGAGAAGCCAGATCACTTCATTAACATGAAAAGTGCATGTCTTTTCTCATTTCTAAGCTTACCTTTGATTTTGAACTTTTATCACATTTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGAT
|
GCAGAGCAGCTATAGAGGCCATAAACCATTGCTTCCTCAATAGAGCTCTGTGGCTAATAATTTCAGCACTCCCTCTAAAAACAGGTTCAAATATAGCATTCTCTCCGAAAGCCTGCCACCACGCACACCTTCATAGGTGATAAAATGATGGTATTCATCAACTCTGCGTATATTTTAAGTTTTCCATCAGAAATTATGCAGCACAAAAATCATGATCTTCATTTAGCTGATAAGAAAAAATACAAAGCTGCTTAATTTAAAATGAATTCCAATTAAACAGAGTGAACAAGTTTAAATGCAAACTCATATCTCTGCAAAAGGGAACTGTAGAAGGAGCTGAATATTTTCAGTTAATTAGTATGCTTTTCTGTTTCTTGAGAAATTATATGTGGATGACTTACAGGTGTATCAAATGAAATAAATGTGCTTTCTAAAAGATAATGTCAATGAAGGGAACATTTGGACTGAAGAATAGTTTCAAATTATAAGACACATGCAGAGGCACATACTTAGCCTTTGCTTCCTGCAGCAGATGACCACTTTCTAATAAAAGTCCTCAATGCCATGGAGGCCACAATTATATTCCCCAAAAGAAAAGAAATGAGAACTATGACAGAGGACAAATTAGCCTCCAGTTCCAGAATTATACAAACATCAGAGATTATCTTTCCTGACTTTGAGAGCCAGGCAAATGTTTAATTAAAAGTTCTGTTCCTAGAGATTTTTTTCTGTAAGCAAAAACTGTTGAAATGACTACTCCATGATTTATATATCATTTTACTCTATGCTTCCTTAAGTAAATGGTGTTTCCAGAGGTATAAATTAACTGTCAGAAAGAGAAGAGACAATAAAAGTTATTTTCAAAAGAGCCCAATCCCACAAAGTCGTGTCAAGCAACATGATTTTTTAAGCATATCCTATGTTAAGGATTGGGGGAGGAAATCTACTATTACAGACTCTTAGCCATCAAGTCCAAATTAATTAACTCAGAAACTCTCCCCAAAAGCAGTTTCTCAGCACCTGAAAGACTCAGAGTCACGTAGGTTAGACATGTTTTCCATTGAGGGTACCATAAAGAGCGGCAGCTCCTTTTTTTTCCTTTTTTTTTTTTTTCCTTTTTTTTATGACTATTGTCTCTACTTCAACATGTCTAATAACAAGGAGTGAACTACCTTACTTGGTAATCTTGTCCATTGTTAGCCCCGATTACAAGAAGAATTTTACCTTGCTGAACATGAACTGAAATTGTAGAAGTTACTTCTTGAAAACAATTTCTGGTGGGGAGGTGGAATACTCATCACCATGCTATCAAGAGAGTTCTTTCACATTCTTCAAAGTACTTTTGAAATAGAGAATTCGATTTGGTTTAATGAATATTTTATATCTTAAAAAAGGAGGCTTAAATTTCCTTAGTGTTTTTTGAATTTAGAATGAAACTTTAGAGTTGAATTTTTAAAAATCAAAGTCTGTCTGTGATTTTTCTCATTTATGTCATCCATTGGAATTAAACAAAATATCCACATTAGATTCATACCATCTCTGTCTGTGAAATTGCTGCTGCTCACAGATAAATCGTCAGGAGTTGAGATGCCATTGGCATTGGAATTCCCAATTTTCTTTTGTGTTAAGTGCTCAAGACTCATAGCACTATTTTTTTGTGACTCTTTGGTCAAGTTCAGAAAGACCTAGAAAGAGAAGCCAGATCACTTCATTAACATGAAAAGTGCATGTCTTTTCTCATTTCTAAGCTTACCTTTGATTTTGAACTTTTATCACATTTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCTGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGAT
|
Task1_train_5409
|
This mutation occurs in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Autosomal recessive congenital ichthyosis 4B
|
TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT
|
TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTTGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT
|
Task1_train_5410
|
A variant found in Chromosome 2 affects ABCA12 (ATP binding cassette subfamily A member 12). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Autosomal recessive congenital ichthyosis 4A
|
TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT
|
TTACTGAGACAAATTTTTCCCGTCTGACTTCAAGTGAATATTTCTGTATGTAAAAGATACGTGCTGTCTAGCTGGGGCAACATTTTATTCTCAGTCTTACATAAGAATAGTACTGAAAAAATGTTAAGCTTTTCTAATTTTGTGAACTATTTTAAAAATTTTTTTAGAAAAATGGCACATATTTCTTCAAAGGGAACAGCAAGTTATATCAGCTTGAAGAAAAAAAAGAAATATTGAGGTATACCTCCTCCACGGTGGTATCTGAAATGCCGTAGCACCCGATGTTGAGGTCACCCATGCCATTGTCGAGTGCCCGTAGGAGTGACAGGTAGGCCCCTGAGACTTTGGTGCTGAATGGAGGAAGTACATAAACAAGCTCTCCCCCAATATCCTCCTTGAGGTAGGCTTCGGGGAGATGTGATTGGATCATTGCTGTCACGGCCATGGTGTCACATACTGCATTTGCATTTAAATTTGGACTCTAAGAGAGAAAAGTAGGAATTAAAACACTCTCCTCTCTTTACACTATAGTGCTCCAGGCCCTAATCAGAGGGTGAGGTGATGAGCTCTTTTAGGCCACTCCACACCTGAGTCAGATCATAACATCACTGCTCTAGAGACCCCTTTGCCACTTGGGTCCCTATTCTACTGGCCCCATTCTCCCATGTCACGCTGTCCCTTCTCTAACCCCCTCCCTCTCATTTGCTCTACTCTAGCAACAACAGTCTCTTTTCTGTTGCTAGAGGGCTTTGGGTTCAGGCACATCCCCTCCTCAGGGTCCTTGCAACTGGTGGTCCTATACCTCCAGATAGCGATGTGTCCCATTCTCTCACCACCTCCAACTCTCAGCTCAACTGTCACTTTATCAAAGAACCTCTTTTCTTATTACCCTACTTAAATATTGCCCCACTTGGCATTCCCTGCTTTATTTCTATCCATAGCATAGAAATAAATATTTACTAAAATATTATTTATTAATAAATATTAAAAAATTTACTAATAGAAATAAGTGATGTACTAATTGCCAATATATGAAATAATTTACTTATTGATCGTATCATCTGAATTCCTCACACTCCATCAGAATATAAACTCTAAGAGGCCAGAGATTTTCATATTATCAGTTCACTGCTGTGTCACCACTGCCTGGGACAGTGCTTGGATATCATAAGGCATAATGCACCTAATACATAAATGTCTGAATGAGTATAATAATTAAGAGTATAACTATTAATAGCATAACATTTTCTTATATTTTGTAAGTCACAGGAGGATTAGATATAAAATAAATGGAGGTAGTTGAAAACTTCCTAATAGCATATACATCTTGCACAGTATTTTTAAATCATATGTTCTGTTAGGTGGTGCAGGGATCTTTAGCGAGCATTTTTGTTCTCCAAAAGATGTAAAGGCACCGTTGACCTGTGCAAATTACAGTCCCTGCACTGCCACTTGAGGAGTACTAATCAGAATGTGAACCCATGACTTCATATTCGTTTTATTTGCTTTTGATAAAGCAGAAAATTGAATTTTTGGCTTTCTAGGTTGAAATGTTAGGAGAACTAAAAGGCTGATTCTCCATCAGTAACCTTAAGATGTCAATCATTTTTTACCTAGCACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTTGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATAT
|
Task1_train_5411
|
This genomic variant is located on Chromosome 2, within the ABCA12 (ATP binding cassette subfamily A member 12) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; ABCA12-related disorder
|
CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT
|
CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGTGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT
|
Task1_train_5412
|
Given a variant located on Chromosome 2 and affecting ABCA12 (ATP binding cassette subfamily A member 12), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Lamellar ichthyosis
|
CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGCGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT
|
CACATTGGTTCTGAATGTGCAGTCCTCAGACCAGCAACATCAGCGTCACCTGGGAATTTGATAAAAATATAATACATTCTGCACTCCCATCCCAGACCTACAGGATCAGACACTCTTGGGGTGGGGCCAGAACTCTGGGTTTTAGTCAAGACCTCCAGGATTTCGATGCTCACTCAAATATGAGAAGCAGTAAGCTAGTATACTAATGAATTTTAGCAATGAATAAAGTTGGAGAGACTCTGCTCCTATTTCATATAAAACTTAATTTATGGTGCCATAATGAGATATATTTTCTCCCATTCCTACCTTCTTCTTGGTAAGCGTGAGGTGATACCCATCGCCAAAGGCTTCCTTGAGGTAAAATGGGGACCCACAGCACCTAAGCCCACCCTGCTCCAGGAAGGCGATGCGGTCACTCAGCACTTCAGCCTCGTCCAAGTGGTGCGTTGACAGAATGATTGTTCTGGCTTGAAAATACAGACAAGAACAACAGGGAATGAAACGTGAAAGTACAGTTCCCAAGACACACAGAGTTGGCCAGAGTAAATCCTGTGACATCTGAGAAGAGTCACATTTCATGAGCTAACTGAAAAACTGACTGACCTCAAAGAGCTTCCAAAATGATGCAAGAAAAATTCAGGGCCAGGCTCACTGGTTCACGCCTGTAATCCCAGCACTTTAGGAGGTTGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACATGGTGAAACCCCATCTACAATTAGCTGGGTGTGGTGGCGGATGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGACTCTCTTGAACCCGGGAGGTGGAGGGTGTAGTGAGCCAAGATTTATGCCACTGCACTCCAGCCTGGGTGACAGACGAGAGTCCATCTCAAAGGGAAAAAAAAAAAAAAGAAAGGAAAAAAAGAAGAAAAACTCAGAAGGGTGTTCTTAAATATTTGGACGCATTTTTTTTCATATAAATTAACAGCAAATAATCCTTTATTATGCTGAGTGACTAAATGTTCACCATTTGTCATGTGGGCATTGGCAATTCTTCACAGTCTATTAGAATTTTGCTCCCATGGGTTCATTTTGCATTGTTTTTCTCTCTCTCTTCCCCTTTCTTCATTATGAAAAAGCAATAATTTAAGACTTTTTGAATATTCCTCTCTGATTATTCCACTCCACTCTGATTACTCCGTTGCTTCACATCCTGTCAGCACTTACTTAGTCTGTTTTCAGTTTATTTTCATTTGTGTATGTTTGATATCTCTAATTAGATTCTTAGCTCCTCTAAGCATTAAACTTTGAAACTTCTGTTGGATTTGCATGCTCTCAAAAAGGCCAGTTAAGTGCTCAACTCACAGCGGGCAGTACATAGATATTAACCAATTGACCCAGAAAGTTGTCTGGGAGAAAAATCTTCAAAATCTTCAGAAAAGAAAGAGCCAATCTTAGACTTTTAAAAGATATCATATTCGATAAATATGTACAAGCATGATGTATCTATACAAATAAATTTTAAAATTTTTAAAAAGATATCATAAACAGAAAAGTCGTCAAGCTGGTTTTTTTTTTTTTTTTTTTTTTGAGACAGTATCTCACTCTGTCATCCAGGCTGGAGTGCAGTGACTTGATCATAACTTACTGCACCCCTGCACCCTTGACCTCTTGGGTTCAAGTGATTCTCCAGCCTCAGCCTCCTGACTAGCTAGGACTACACATGCCAGCCACCACAGTCAGCTGTTTTTATTATTATTATTATTATTATTATTATTATTATTATTATTATTTTATTATTATTGACAGCGTCTCACTATGTTACCCAGGCTGGTCTCAAACTCCCAGGCTCAAGCAATCCTCCTGTCTTGGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGCACCCAGCCTCAGTTTGCTTTTGTATATGCCAGAGGGCAGAAGTATGACTGTTGGGTGGAGAAGTTCTGAGAAACTACTCATACCAGTTTTGTTCTTGGATATAACATCCCATATACTTCGGTGAGAACATGGGTCAACTCCAGTAGATGGTTCATCCAAAATTACTACCCTTGATCCACCAATGAGAGCTATGGATATAGATAACTTCCTCTTCATGCCTCCTGACAGTGTTCCAACTCTCTTATGACGATGGCTATATAGTCCAGTATCTTTTAAAGTCCTTCAAAAATAATGTATGATGGTTATTTTTTTACAGATATACTATTTGAGTACTGGAAACATACAATAACCCTAATTGATATGTATTCACTAGGTAACTATTATGTGCTCAGTAAGGTACAATAAACTCTTGAGGATTCATAATATAGTTTTCTATTATTTATCACCTGGATACAAAATTAATACTCAAAAAATTAACTTTTTACAAAGTACAAAATTAATGTACTTTACAAAGTACAAAATTAATACTCAGAAAAAAACACAAAGGAATATATAATTCATTCCTTTGACAAATATCTAGAGAGTTCCTACCTATTTTGTGCCAGGCTGTGTTTTATGTACTTGGGAAAAGCAGTGAACACATAAAATTTCTATTCATAAGGAGATTATGTTCTAGTAAGTGTGTGTATTGGGAGGGATATAGGGAAATCCAGTCAATAAATATATTCTCAAGTAAGTTTTGGTGGTGATAAGTGCAATTAAAAAAAATAAAGCAGTGAATATAAGATAAGGAGTGGCTGGGACATGCTATTATAGGCATCAATTTTATATATGGTAGTCATCTCAGAAAAGGTGACATTTTGGCACAGACCAGGAAAGCGGTCATTTGACCAAGATTAAGACAAATGGCCATCTGGGGGGGTAGGTGCTGTAAGTAGAGAGAAGAGAAAGTAAAAAGCCCTGAGGCTGGAGCAGGCCTAGGACAGTCACGTGTGTAGCTAGGCCAGTGTGCCTTGAGCAGAGTGAATGTGGAGGTGAGTGGAAGGACATGAAATCAGAAGTGAGAATGGAGGCAAATCACTTAGGACCTCCTAAGTCTTGATAAGGATGTTATTGAGTATTATACTGAGCATGGAAGGAAGCCACTGGACGATTTAAATCCAGGAGTGACATAGTCTGATTTGCAGTTGAAAAAGATCACCCTGGTTGCTCTTTGAAGAACAGATTTCACAAGAGATGAGTGAAATCCAAGAATCCACTTAGGAGGCTTGGACCAGGGTAGTAGCCATGGAGATCAGAAGCAAAGGATTCGGGGCAATATGGGAGCCACAGATGAAGAGAGTTAAACAATTTCAGTGTAATAACTGGCCGGTAAGGATAATGACCTTAAATGTTTGCAATATTAAATAAGTAGAAAAACTAAAAAGTAATTATTTCGTGAGAAAATATTTCCTATTGGTATCATTACCAGAACTTTACCAACCAAGCTATGGGTCTTTGAGAGGAGTTAGCAACTTAGGTTCTCATTCCTGTCTTAACTTGCCTTTTTACTTCCTCGTGGAGCTGCTTTTTAGTCCAGTGAGGAACTTTGATGGAACCATATAGGAGAAGGTGCTCCTTAGTAGTGAGGTAACTGAACAAGACGTCGTGCTGCATACAGACTCCCATGTTCTTCCGTACCGTGTGTAGGTCTGTTTTGATATCTTTTCCATATACAAAAATGGTGCCTGCTGAGGCCCCAAACAGCCCAGTTAACATGGAACTGGAAATGAAGAAATGATAAATTAGGTATAAGCCAAGCATTGAAGCTAGATATTAGGAATAACTATATCTCAGTTGTTAGAAGGAAAAAATACAGTGTATCTTCTCAGTCAAGGGCAAACTATGAAATAAAATGGTATTTAATGGGAATAAGAAATATTACTTTTAAGTTTTTAATAATTCAGAGTATTACATAAATGCTAAATGATGATGACAAAAACGATCAGGCCTTTTTTTTTTTTTTTTTTTTGAGACGTAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACGCCCGGCTAATTTTTGTAT
|
Task1_train_5413
|
An alteration has been detected in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Autosomal recessive congenital ichthyosis 4A
|
TTCATTATTCAGCTCCAGGATTGCTCTATATATCTATCAGACAATACCACTTCTCTGTGAGATTTCTTACAGGGTCCTTCAACTCAGTATGTTTAAAACCGAGCTCATGATCTTTACCCTAAAAGCCACACCCTCATTGATTTTGCCTCTTTCCCCATGTGATAAATTCATACACTGGTTGCACGAGACTGGAATCTGTAAGTCATTTTTGCACTCTCCTCCTATCTTAATCTCCTAACTACATGCCCATCTCACCGTTTTCACAGCTATCCTCATGGGACCATCACCATCACCACCTGCCTAACCCATCACTCTAAGCTCCTAACTCTACTTCCCGCATGCTCTTTGGTCATCTCTAGTCCTTTTCTCTATACTGTGATTAGAATATTCTCACCTGGATAATTCCTCATCATCTTTCAGATAGTTAGTAAACTGGGCAATTATTTAATACCCATCTCCTCCACTATAATGTAAGCTCCATGAGGTCAAGGAAAGGTCCTGTTTTCTAAGCACTTTGTCTCAGTAACCTACTCAGTGCCTTGCAGTGCAGACTTCTGGATTAAATTATGAACAAAGGAATATGCAGTTTTCCCATATGAACACTGAAATACAAATAACATACTTTATATTAAAGGTTTCTATTTAGAACAATAAAATGGGGGCATTCTCAGCTAAAATTATAGCCTCTTCAAGAGCCTTCTCTGTTCCTTTTCTTCATTAGCCTCTTATTGCCTATTAGAAACATGAATGGAGCTGGAGGCCATTATCTTTAGCAAATTAACACAGGAACAGAAAACCAAATACAAATATGTTCTCACTTATAAGTGGGAACTAAATGATGAGAATACACGGACACAGAGAAGGTAACACCACACAGTGGGGCTTTCGGAGGGTGGAGGGTGGGAGGAAGGAGAGGATCAGGAAAAATAAGTAATGGGCACTAGGCTTAATACCTGAGTGATGAAATAATCTGTAAAACAAACCCTCATGATGAATTTACCTGTGTAACAAACCTGCACTTGTGCCCCTGAACTTAAAATAAAAGTTAAAAAAAAATCTGGCCTTTTTGGCATTGTATTCTCCCTGGAAAGCCAACTCTGACTTTAAACAGGCCATGCAAATAGCAGAGGCTGTATGCTCACTCATTTCATGACCTCGTTTGTCCCCTTTTATTTACAAAAAAAAATTAATTCCAGTGTTTTTGCAGTCACTGAGCTGATTCGTGATGATACTAAGTAAGATATGCAGCAACTGATCCTTTTTCTCAAACAAGGGCTCGAGCACCAGCAGCATCTTAGAGCTGACTCAGCAACTAAGTGAATATGGAGCATTGGAGGCAAATCACATAAAAATAACTCAAAAGAATGTCACTTTAAAAACAGTTGAATCTCTTCTCCATTCTGACACAGGAAAATGCTACATAGGTGAGGAGTGAGAAAGAACAGCTTATGTTCTGCTCCTGGCCTTTTTGATTGCTGTCTGATAGCTGGTGGTTCCTTTGTTTCTTTATGAGTCAAGGCAAAGGTTTCCCATGAAGGAGCAGCTGAGGCTAAGTGTGTTTATATCAGGATGCAAAATTTCATACTTATATATATGCCAGGTTAGAAATGCAAATAAATGAAACAGGGTGGGTGTATGAAGCAGTGCAGCTTGGTAGAGACCAGGGATGAGCCAGAAAACAGATACTCCCTTTAAGAGATCAGTTACTAATGAGCCCCAATCAATAGTCTCTACCTAAGAATATGAACTCAATGTTGTAGAATTTCCTATTATCTAAGAGGTGCCAAGAATATTTATTTTTATTAGAAACTCCCTATTTTACAAAATTGGCACTGAATTAAAAATTTTTTAAAGTATTACAACCTTTGATTTTGACTCCATTCTATAGCATACAAGTTGAACCATCTTCCTCCATCTGGGAAATGTAATAACTTTATGTTTTATAAACATAGGTTAGTTTATTTTTTTTACACCTGTATTTTTTGTAACATGCTTCCATGGCAATAAATGTCAAAAAGTTAACATACATGGTAGTAGTTTTCCCAGCTCCATTGGGCCCCAGCAATGAAGTAATATGCCCTTCATAAAAGTTCAGATTGAGGTTATCAACAGCAACTTTTGAGCCATAGATCTTTGTGACCCCATGCAGGGCAACCCCGACTGTGAGATCTTTAGGTTCAGGCTCGATGTTAGAGGAAAACATGTATTCAGGACCTGGAGAGAAATCAAGGGAAGAGTTGTAAACTCACAAGTAAGGTAATGCAGCTAGAGTTAGACTTTATCTTTATTAAAAATTTAAGACTATAAAAATATAACCCTCTAAGTAAAATAAAAAATCCAGAAACAAATGATTTATTATAGTCTTCAGCCTCCTCACTTGGTTGCAGAATGAATAAGAGTGGAGAACCAGGGTTCATTTCACCCTTCTTTGTTGGAAAAAGCAGTCCCAGAATATGGTATTATAATTATAAATTCTCCTTTATTCAACAGATATCAAATAGTCAAAAGATATGTCTAAGGCTTGGTCCTCTGGTTGGGCAGGATGATACCAAATTATAAAATAAATGCCTCCAAAGTTGTGATTTTAGAGTGATAAGACTAGTTGAGATTGTGGTTTATAGAATCCAGTTCATTAATAACTATCTACACCTCCTTCAGGCATCACAAAAGGACCGCTTAGTGGCCCGTACTCACTTTATAATGACACGACTCACCTAGTATCAGGAAGACACAAGCTTTGAACTACTTTTCCAGTATTTGTGATGGGTTATGCTAAATTACTCAAACTTGTTACTTGGTTACCCCTTATGACTGGTGACAGATGGCTGGAGTTAGGGGTGTAGATTGTGGCCAAGGAACAAAATTTTTCTCTGTGTGAGTCTAACTGGACCACAAAGGGATCTGCAATCTTGGCCTAATTAGCACCATATGCTAACCAACTGAGCTAATGAGCCCAGAAAAAGCCACAATTTAATCCCCATAAGAGTCCAAAGACGCATGTGTAGACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGG
|
TTCATTATTCAGCTCCAGGATTGCTCTATATATCTATCAGACAATACCACTTCTCTGTGAGATTTCTTACAGGGTCCTTCAACTCAGTATGTTTAAAACCGAGCTCATGATCTTTACCCTAAAAGCCACACCCTCATTGATTTTGCCTCTTTCCCCATGTGATAAATTCATACACTGGTTGCACGAGACTGGAATCTGTAAGTCATTTTTGCACTCTCCTCCTATCTTAATCTCCTAACTACATGCCCATCTCACCGTTTTCACAGCTATCCTCATGGGACCATCACCATCACCACCTGCCTAACCCATCACTCTAAGCTCCTAACTCTACTTCCCGCATGCTCTTTGGTCATCTCTAGTCCTTTTCTCTATACTGTGATTAGAATATTCTCACCTGGATAATTCCTCATCATCTTTCAGATAGTTAGTAAACTGGGCAATTATTTAATACCCATCTCCTCCACTATAATGTAAGCTCCATGAGGTCAAGGAAAGGTCCTGTTTTCTAAGCACTTTGTCTCAGTAACCTACTCAGTGCCTTGCAGTGCAGACTTCTGGATTAAATTATGAACAAAGGAATATGCAGTTTTCCCATATGAACACTGAAATACAAATAACATACTTTATATTAAAGGTTTCTATTTAGAACAATAAAATGGGGGCATTCTCAGCTAAAATTATAGCCTCTTCAAGAGCCTTCTCTGTTCCTTTTCTTCATTAGCCTCTTATTGCCTATTAGAAACATGAATGGAGCTGGAGGCCATTATCTTTAGCAAATTAACACAGGAACAGAAAACCAAATACAAATATGTTCTCACTTATAAGTGGGAACTAAATGATGAGAATACACGGACACAGAGAAGGTAACACCACACAGTGGGGCTTTCGGAGGGTGGAGGGTGGGAGGAAGGAGAGGATCAGGAAAAATAAGTAATGGGCACTAGGCTTAATACCTGAGTGATGAAATAATCTGTAAAACAAACCCTCATGATGAATTTACCTGTGTAACAAACCTGCACTTGTGCCCCTGAACTTAAAATAAAAGTTAAAAAAAAATCTGGCCTTTTTGGCATTGTATTCTCCCTGGAAAGCCAACTCTGACTTTAAACAGGCCATGCAAATAGCAGAGGCTGTATGCTCACTCATTTCATGACCTCGTTTGTCCCCTTTTATTTACAAAAAAAAATTAATTCCAGTGTTTTTGCAGTCACTGAGCTGATTCGTGATGATACTAAGTAAGATATGCAGCAACTGATCCTTTTTCTCAAACAAGGGCTCGAGCACCAGCAGCATCTTAGAGCTGACTCAGCAACTAAGTGAATATGGAGCATTGGAGGCAAATCACATAAAAATAACTCAAAAGAATGTCACTTTAAAAACAGTTGAATCTCTTCTCCATTCTGACACAGGAAAATGCTACATAGGTGAGGAGTGAGAAAGAACAGCTTATGTTCTGCTCCTGGCCTTTTTGATTGCTGTCTGATAGCTGGTGGTTCCTTTGTTTCTTTATGAGTCAAGGCAAAGGTTTCCCATGAAGGAGCAGCTGAGGCTAAGTGTGTTTATATCAGGATGCAAAATTTCATACTTATATATATGCCAGGTTAGAAATGCAAATAAATGAAACAGGGTGGGTGTATGAAGCAGTGCAGCTTGGTAGAGACCAGGGATGAGCCAGAAAACAGATACTCCCTTTAAGAGATCAGTTACTAATGAGCCCCAATCAATAGTCTCTACCTAAGAATATGAACTCAATGTTGTAGAATTTCCTATTATCTAAGAGGTGCCAAGAATATTTATTTTTATTAGAAACTCCCTATTTTACAAAATTGGCACTGAATTAAAAATTTTTTAAAGTATTACAACCTTTGATTTTGACTCCATTCTATAGCATACAAGTTGAACCATCTTCCTCCATCTGGGAAATGTAATAACTTTATGTTTTATAAACATAGGTTAGTTTATTTTTTTTACACCTGTATTTTTTGTAACATGCTTCCATGGCAATAAATGTCAAAAAGTTAACATACATGGTAGTAGTTTTCCCAGCTTCATTGGGCCCCAGCAATGAAGTAATATGCCCTTCATAAAAGTTCAGATTGAGGTTATCAACAGCAACTTTTGAGCCATAGATCTTTGTGACCCCATGCAGGGCAACCCCGACTGTGAGATCTTTAGGTTCAGGCTCGATGTTAGAGGAAAACATGTATTCAGGACCTGGAGAGAAATCAAGGGAAGAGTTGTAAACTCACAAGTAAGGTAATGCAGCTAGAGTTAGACTTTATCTTTATTAAAAATTTAAGACTATAAAAATATAACCCTCTAAGTAAAATAAAAAATCCAGAAACAAATGATTTATTATAGTCTTCAGCCTCCTCACTTGGTTGCAGAATGAATAAGAGTGGAGAACCAGGGTTCATTTCACCCTTCTTTGTTGGAAAAAGCAGTCCCAGAATATGGTATTATAATTATAAATTCTCCTTTATTCAACAGATATCAAATAGTCAAAAGATATGTCTAAGGCTTGGTCCTCTGGTTGGGCAGGATGATACCAAATTATAAAATAAATGCCTCCAAAGTTGTGATTTTAGAGTGATAAGACTAGTTGAGATTGTGGTTTATAGAATCCAGTTCATTAATAACTATCTACACCTCCTTCAGGCATCACAAAAGGACCGCTTAGTGGCCCGTACTCACTTTATAATGACACGACTCACCTAGTATCAGGAAGACACAAGCTTTGAACTACTTTTCCAGTATTTGTGATGGGTTATGCTAAATTACTCAAACTTGTTACTTGGTTACCCCTTATGACTGGTGACAGATGGCTGGAGTTAGGGGTGTAGATTGTGGCCAAGGAACAAAATTTTTCTCTGTGTGAGTCTAACTGGACCACAAAGGGATCTGCAATCTTGGCCTAATTAGCACCATATGCTAACCAACTGAGCTAATGAGCCCAGAAAAAGCCACAATTTAATCCCCATAAGAGTCCAAAGACGCATGTGTAGACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGG
|
Task1_train_5414
|
This mutation occurs in ABCA12 (ATP binding cassette subfamily A member 12) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; not provided
|
GACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCC
|
GACATTTTCATCCATGACTAAAAGGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTTGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCC
|
Task1_train_5415
|
This sequence change occurs on Chromosome 2, altering ABCA12 (ATP binding cassette subfamily A member 12). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Autosomal recessive congenital ichthyosis 4B
|
GGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTC
|
GGATGATAATTTTGCCATTTAGAAAAAAATAATTGAAACTACTAGTCATGTAATTTCATATCATTTCTCTCATAACAAAGCACGCTGTTGACCGACTTGTCTTACTGGCAGATGGGTTGGTGTTCTGCATCATGATGTTAGTAAACATGAGGCCATTGCTCTTCTCAGGCTTCACCTCTGCACACCCAAATCGCTCCTTCCAATAGGAAGGAAGAATTGGAAAATACCAGGGAGCTGCCATACCGTATGTCCCTGGAATAAAAATATATCAGGAACAGTGAGTTTTAGTTGACTGTTAACATTTATCATCAGAAACAAAACAGTAGATCCTATGTATGGTTTAGGAAGTAGTTTTATTTTTTGACACTATATAAAACTAAAAGGTGGTCTCAGTTTCCATAGTAAAGCAAAAAACGATGCTTTTTTTCCTTGTTAGTTTTTAAGCAGCTTTATTTACATTTACTAAAACTTATCTAACTGTACACTTATTGTAATGGAAAAAGCCACTATTTATCTATGAAATACATGTCTACAAGTTGTGATTTTACAGTGATAAGACTAGTTCAGATCCAGATTCTGGGTTTCCAGCCCAGAAAAAGCCACAATTTAATCCCCACAAGGGTCCAAACAGACATGTGTAGACATATTCATCTATGACCAAAAGGATAATTTTGCCACTTAGAAAAACATAATTAAAACTGTTAGTCATATAATTTCATATCATTTCTCTCATAACAATGCATGCTGTTGGCCTACTTGTCTTATTATTGTAAGTGTACAGGTAGATAAGTCTTAGCTAATGTATAAAGTTGTGCAATTCAGTATTAGAACATTTCTATAACTCAAAAAATTTGTCTCATGCCCATTTGCAGATAATCCCTGCTCCCACCTCACATCCCAGGCAATCATTGATCTGCCTTCTGTCTCTATCTGTCTTTCACAGATCTTACATAAATGAAATCATATTCTTTTATTCATGTATAACACCAAAAAATGCATACATATAAGTAGGGCTAAATGGAAAACTAAGCATGTTAGAAAGGATGACTGCTTGAGACCTAGAAGGGGGAACCCAACTTGTCTTCTTCCGTTAGAATCTGGTAAATTCTCCTTAGAATTAGGAGATTTGGTTTTTCCCTTATTATCTCTCACACTCCTATTTAGAGAGACTGGATTGATTTGACACTATTCTAAGCTTCTTAATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTACATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTC
|
Task1_train_5416
|
A variant on Chromosome 2 in gene ABCA12 (ATP binding cassette subfamily A member 12) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Autosomal recessive congenital ichthyosis 4B
|
AATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCCGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTCTAGGTCAATATTTGTCATCCTTGTTTTCCAAAAAGCCATTTATACATTCATAATAAACTCATGTATCTGAGATCCTCTATACCTCTCTCTCAATTGATATTCTTTGATACCTCAGTGATATCCCCAGAGGCCAAGGCGTTCCACAAGGTAGAAAAATAAACAAGCACAATCAATTTGTGCATTAACTCAAAAGGATTCTGAAAGATTTAAAGTCCCCTGGGAACATCACACACCAGGGCCTGTCGGGGGATGGAGGGAAGGGGAGGTATAGCATTAGGAGAAATACCTAATGTAGATGACAGGTTGATGAGTGCAGCGAACCACCATGGCACGTGTATACCTATGTGACAAACCTACACGCTGTGCACATGTATCCCATAACTTAAAGTATAATAAAATAATACAAATAAAAATAAAAAGATTTAAAGTCCCCTGGACCTTGGTTTGGTTGAATTTTGTGACATGTACTTTGGGGAAACCTGGATATCCTGGTTTCTAATTTTAACAATTCATGATTAATGAGGGCCGATCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGACAGAGACCATCCTGGCTAACACAATGAAACCCCGTTTCTACTTAAAATACAGAAAAATTAGCCAGGAGTGGTGGCGGGCCCCCGTAGCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAGAAAAAAAAAAAATGAAAAAAAAAAAAAAACAATTCATGATTAATGTTAAGCCTATCAACCTAGTATCCCCCCCCTTTTTTTTTTTTTTTTTTTTAGGAAAAAAAAAAGAACAGAGGAAATCTCCACTAACTGGCCGGGCACAGTGACTCACACCTGTAATCCCAGCTGTTTGGGAGTCTGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCCACACCAGCCAGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATAGCCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGGTCCAG
|
AATTCACTCCATCTTTTAAAGGAATATCCGAGAGGAAATTTAGCAGTATATTATCTCATCCTGAAAATTTTTTGTTAGCTTTGGGATTTGAATACTTCTTTTTGGAGATTATATATGGCAAATAAGATTTTTTTTTAATTAAAAAAAAGTTAAAGGCCGGGCATGGTGGCTCTTGCCCGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCAGATGACTTGAGATCAGAAGCTCGAGAGCAGCCTGGCTAACATGGTGAAACCCCGGCTCTATTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTCAATACATACATATATATATATATATATATATAATATTTTTATTTTTTAATTTAAAAATTTTTTGCAAATAAAATATTAGAACATATTATTAGTTGATTTATATTGAAGTCAACCATAAAAAGCATGTATCTGTAGGAAGCACATTCATACCTGGGAAGACATTCCTGACATACCAAGCAATAAGGAAATAAATGAAAGAGTCAGCTAGGATTAGACAGCACAGCCAGCCAAATGAGGTGGTGTCATCCTGAACCGGGGAGGTGTACATATTTTCCCACTGAAGACCTAAAAAGTGAACACAAGTGTTTATTCTTCTGTGACACACAGCACAGTTGTGAAAGATAAAATCCAGTTTTAAAGAAAGGGGACCTACCAATGCCCTGTTCTTCGTATCGTGCAATGTATTGGCTTGCATAGCTGAATGCTGTTGGGGACAGCAGGCTCTGTGAAGAAAGGAAACGGCAATGATAGTTCTTGTAGATTTCATGTATTTCACCCAGAGGTATCCTAAAATACTTAAAACTTTGGACATTTGTATAGATAAAATTGATGCTCATTCTCTAAGCATATTTAAAAATACAGCAGTCCCTTACCAACCATGCTACAACTGTGAAGCAAGAGCAGAGAGAATAGCAGAAAACAAAAACAGGAAAATTACAACTTGAAAACCATTCCTTAAAAAATCAAAATATACATTTGAACTCATTAAATGTTGCTCAGCAAGTAATAAAATAGTTAATTATGGAGTAATTCAGTATTAAGACTAAAATTTACCAAAAATGTTAAGGGCCAGAAGGCATTTTCACTCCATACATTTATTTCAGGTAATAGAAGTACTATGAATAAAAATATACTAAAATATCAGTTGATTGAATATTGATAATTGCAACAAATTAGAAATTTAAATATTGTTTAAACCCAAAGTTGTCAATGCTAGATAAAGTTATTCATTACTTTTTATTTCCATAAATAGCAAAGTTTTAATATGATGAAATTAGCTTCTGCTTTCTAAATTTCAGTCAGTAATCTTAATGCTTTAATTAAAATTCTTAATTTAGTGCTTCTGAATTGACAAGGCAGGAGAGAATTTAAGGTTGCTTATATGCTGTTGGTGCATTTGTCTTTACACCTTTAAGCTATATTATATGTCATGAGAACCATGAAAATTGTTCACATATGAGAATAATTCCAATACTAGAGGCTCCAAGACGTTTCAGGAATTGGTCCAGAGAGAAGTCAGAATTCTTGAAGACCTCTAAAACATGATGTATGACATTTTAACTGTTCTTTCTTTAGGAACTATTTCTTAACAGTATCACATATCATGGTTTTGTAAGCTCTTCATTGTCTTGTATGGTATACAGTGATGTAAGAAAAGCTATCATTAGGACATTAAGCTTACTTTGCTTTCACTGAATTTCAAATTAAGATAAGTGAACTTTCAGTCTGAGAATCCAAAAACAAACAAACAAACAAACAAAAATGGGTAATTTCCCACTCTGCCATTCCAACGGTTGACTTACCATGAACACTTTCAATACATAGCTCAACTCATTCTCCACTGTAACCAGAACAATAAATGGAAAGAAGGCAATGATGTAGATGAGGCTTCTGATCAGAGCTGCAATGTTGGTGTTGTTGAAGAAGACACTGATAAGATAGCTCATGGCAATAACCGAGAAGCTGTAGTCCGAAAAATACAGGAACAAAATGAACCCATTTGTTTTAGGAAGAATATTGCCAAACTTGAGTATAATGATGAGGATCACGATGGTAACCAGTAAAAATCCAACACTCTCTATAAGCCAGGCAAAGAAATGGCTGCAGGAGTTCACACCCATCATCTTCATGTACTGTAAGAAGAAAAAATGTGAGGCGCTTGTTATGCTGATATTCTTCCAAATAAAAATTATTCCCTGTATTATGTCAAAATGTCATGATAGTCTCTCTGTATATGGAACTAGGCATTTTAATAATTTACATAAATCAAGAATTTATCCATGCTTGCTATGTGAAATATGCCTATATACACCAGAACAACTTAGATTATTTGTTCACAGAATGGCACAATATAATAAACAATTTGGATGGTGAGGGTTTAATTACAGTTCCACTTTATAATTGTTACCCAGCTGACATCTCTAGATTAAACTAATTTAGAATAGATTATCAAATTTATGGTATCCCCTGTAGAATTTTACATGATTTTGACATTTATGCAGGCATGAGCATTTCAAACTGGTAAAAAACCATGGCTTAACTATTAGTTCAGTGTAGAGACTGAGCTCATAAAAATCCATAATTTTTTTTTTTACTAAACACTAATGAACAACACAATCAGTATTGATGTTCCTGAGAGAAACAGTATACCTGATTCCTAAGAATTTAAAACACATAACTTAAGGGAGACCTCCTGCCTTTAGCTATAGCCTTCCCATCCTTAACACTTACTGGCAGTCTAGGTCAATATTTGTCATCCTTGTTTTCCAAAAAGCCATTTATACATTCATAATAAACTCATGTATCTGAGATCCTCTATACCTCTCTCTCAATTGATATTCTTTGATACCTCAGTGATATCCCCAGAGGCCAAGGCGTTCCACAAGGTAGAAAAATAAACAAGCACAATCAATTTGTGCATTAACTCAAAAGGATTCTGAAAGATTTAAAGTCCCCTGGGAACATCACACACCAGGGCCTGTCGGGGGATGGAGGGAAGGGGAGGTATAGCATTAGGAGAAATACCTAATGTAGATGACAGGTTGATGAGTGCAGCGAACCACCATGGCACGTGTATACCTATGTGACAAACCTACACGCTGTGCACATGTATCCCATAACTTAAAGTATAATAAAATAATACAAATAAAAATAAAAAGATTTAAAGTCCCCTGGACCTTGGTTTGGTTGAATTTTGTGACATGTACTTTGGGGAAACCTGGATATCCTGGTTTCTAATTTTAACAATTCATGATTAATGAGGGCCGATCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACGGGCAGATCACGAGGTCAGGAGACAGAGACCATCCTGGCTAACACAATGAAACCCCGTTTCTACTTAAAATACAGAAAAATTAGCCAGGAGTGGTGGCGGGCCCCCGTAGCCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAGAAAAAAAAAAAATGAAAAAAAAAAAAAAACAATTCATGATTAATGTTAAGCCTATCAACCTAGTATCCCCCCCCTTTTTTTTTTTTTTTTTTTTAGGAAAAAAAAAAGAACAGAGGAAATCTCCACTAACTGGCCGGGCACAGTGACTCACACCTGTAATCCCAGCTGTTTGGGAGTCTGAGGCAAGCGGATCACCTGAGGTCAGGAGTTCCACACCAGCCAGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGTGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGACAGGAGAATAGCCTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTGCAGGTCCAG
|
Task1_train_5417
|
This genomic variant is located on Chromosome 2, within the ABCA12 (ATP binding cassette subfamily A member 12) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; Lamellar ichthyosis
|
GTTTATGTGTTGGGCTCCACTCAAGCTTTCACTTGGAGAAAGGTCCCAAGGCCATTTCCTTTTTTAATCTACAAGACTAAAAAATTACCTCCAAGTACCCCAAGAAAAATGTAAATATTAATGAAGCATGAGATCACTATCATTCAGTATCACTTTAGCATGCAGAAGTGTGTCATTATCAGAGAGATGAGGTGTTTTTTTGGTGAGGGAGCAGTGGGAGTTGAGGCCATATTCCATTTTTTTTGTTGTTGTTTCCTGGGAAACTGTATGGCATGGGGTAGGCATTTACAGACTACTTCTTGAATGAATTTTGTTTTGGTTCAGGTACAGCCTTGAAGTGATTTCTGGATCTAGAACTAGGCAAAGGCCTTCATTCATTAACAACAAATCCCCTGTAATGTTTCTTCCAAGTGATAGTGTATTTTAGATTTGGTCTAGTATAAAGCAGAAATGTTGGTCTTATAAACAGGAGGACTAGTGTAGTACCAGTTATATTATCTTGGGCAAGTTAATTAGCCTTTCTGGATTTCAGTTTTTTCATCTGGAAAGTATGGACAATAATTCCTGCTCCTACTTACATTATGAGGTTGTTGGGTGAAACAAATGAAATAATTAATGGGAAATCACTTTATATGCAACAGTGTATATGTGTGTAAGGCATAATGAACATATTCCCATAAAGAATACAGACTGCACACCCAGGTACCCACCATCCTAGGTACCAAAATTTATAAGGGGAACAAATGAGCAGGGAACTAGATAAGAATTATAACTTCATTGACCCCATAGATCTTTATAATTTGTGCAAACCATTGCAGTTCACACATAGTTCGGGCAGCACAGTCCCGTCCACAACAGCCTCCACAATAGCCAGCTAACCTTGACAGTCCACTTGATGGACTCCTTACCTGCTTCCTCATGCTACTGTTGCACTGGGTTACATTACCTCATCTCATTTATAACTCTTGAAGTAGCCAAGGGAGACAGAAGCATTGAAAGAAAGAAAAAAGAAGAGAAAAGAAAAATCCAATACCATCTGAATTGTATATAAACTGCAATAACTGGGTTGCGTAGCATGTTCAATTCCTTTAAAGTAATATTCAGCCTCAAGCTTTTATATAGGAAGGTGAGCTTGAAAACCATAATCTGCTTATTTTTTAACCATCTACAGAGTGAAGGAAGCATTCAGTGCTACCCAACTGGCAGATTTCTCGAACATTCAAATTGAATTGTCTAAAAGCATTATTGTTACTTTTTTATTCATCTAGAAAAACCATTTTAGATATAGAGGATTCCTAGCAAATGAACTGATAATACATGAAAGTTTCAGGTAGCACAATATTTATCTGAAATAGTTGATCAAAATGTGTTCAAGGTTTCTTTTATCAATTTGTTTTCTTAAAATTGATCATGCGCTCAGATTTTTTAAAATCCGATTTGGGAGTTGGAAGGGATTTTAAGATCGTCTTGTTCATCCCTTTCATTTGACTAGAGGGAGGTAAGCCCAGTAGACAGTGGGGAACATCAAAATCATGCAGCAATGTACTCAGGTCTGAAGTCCAATTATTCCAATTTTAGGGCCAGAATTTTTGGAGAGCTAAGGGTTTTTATAGATCATTTGGTAAACACTTTACCATCATTTTGGTATTGATGAGCAGTTATGATGAAGCTATGCCCTATAGTGTGAACTCTTTCTCAAAACAAGCATATTACAAAAGTTTGGTGAATGTTGTTCCTTTCATGTAATACATCTGAATGAATGGACTGAAGTGAGTTCTCAGAAAAGTTGTTGATCATTAAAAAGGCTGGAAGTGCACACACTTACTTGTCTTTCATGAAGCAGGGATAAGGAATTGCTTGAACCTGGACTGCTATTTCCTGGGAGTTCCTTCCAGTTTGCAATTCAATGATTGCTCTTTCAATACTATCCTGTAAATAAATAAAAGCCCTGCCATAGATCTGGTTGTGTGATGGAGAATTGTGTGGCCCTGGAGCCCAAATCTTGGTTCTTAGGCTTCTTGTGGTCTGTGCGGTCTTGAGACTCATCCGGATGGTATATTTTATGACAGGAGGAAGAAAGACATTTCCAGAGTCATAGCCTCTGTGCCAGCTTCTGTTAGAAGGAAGCTTAAAAATAACACCTAAAAATAAAATGGCAACAACAGCAGAAAGGTTATTTTATGGTTGACGTTATTCATTGTTTGGAGAGTACACAGAGGGGACAGCCAAACAGTCAATTGAGTTAGTAATGTGACAGTAGGTTCAGGTTCTTAATTTACAGAAAACATGGTTAATTGGAGGTGTCAACCTCAGAAATTCAAAGCTGGAGTTTAAGAATATAATCACCAACTAAGTAGACAGATTAAATGCACCATTCTAAGCCACTTATTAATATAAAAACACTTTTAGATAAATAATGACTGATTATGAGGATGGACTCAACTTCACTCTGTAACTATGTAATCCTTTTCAATCTTAATTTGAAGTACACCAACAAAATTAGACATACTTAGAGATTATAGTTGGTTGCCTACATGAAAGGTTCTCTTTTCTAAGGACATCAGAGGACCTAAGGACCCCCACACTAGTTTTCTGAGTTCTGGATGAAAGACATGAGGAAAGAATTTGGCCAATTTTAGCACAAAGAGATGCTCAAACCCTAATAGAACAGCACTTACTTCCAAAGAGTTCGTTGCTTTTGTAGAGCCTTTTAGCCTCTCTCTCCATTTCATCTATGGTTTTTGCTGCCTGAATACGGTCATATAATACACAAGAGGAAATATTTACTGTCAGGGAAGATAGTGTGTTAAGCTGATCGATGATGTCAATGTTGTTCTCTAATTTCAGTCTTAGAATATCTAAAGAGGCAAAGCAAAAGAGACAAAAAAAAATTATGGTCCTGATTCTGGTCGTAATTAGATGAAATACTGATTTTTTGTAAATACTAAACTAGATTATAAATAACAAAAGCCTGCAGAATTTACTCTAAAAATATCTAGTATTCTACACCAAAGAAAATGGGTCGTTATGCAAATATTCATTGAGGAGCCAAGCTAGTTACAAATACAGTAAACCTAGGTTCTAAGAAAGATACAAGATAACTTAAAAGTATATTTTGTTACAATTTAATAACAAAGAACTAAGATGAATAAATTTTTAAAAATCTATCTACATGTAGTTAGGACAAAAACTATAAACCAGAGATGTGAGTTTAGAATAAACTAAACAGAAATGCCTGCTTTGTACACGGAATGTGAATGCACAAACTGAAACAAAGGAAAGTCTATGTAGAATGCATAGGATAAATAAACTGTATTATTACATAAGCTGTGATATAGAAACACTTAAGATACCTGAAAATATATGCCACATAGTTGTGAGTTTCTAATACTGTTTGACTTAAAATCTTATGTGTATATCTTAAAATTAATACTTTTGATATCTGTATTAATCTGACAAAATGATCAGGATTTTATTTTGGGTAATTACTCTGGAATAAAGGGGACTTAATTTCTCTTCAATTTTATGATTCTTTGTGAGGAAATCAACCGGGACAAAGGGTAAATATGAAATTGCAAGTTAACAAATCATTTGGCCAATTACATTTTTACTGACTTGATCATCATGAATGCTGAGAAGGCTGCGAATATCATAAATCCCTCCTTCACAGAACCCAGACATGTCTCTTACATCGTCCAAAATAGGACTAAATTTCTCACAGAAGACAACTTCTTAAATGCATTTCTCATTAGAATTTAAAGTGAAATGTTTTACTTGATGTAGATGTTGGTGGGGGAGGGGTAAATTGTGGTTGAACAGTGGCCTCCAGCGGCCACTGGAAATCAACACAACACCAAGGAATTATTTAGAAATTCTGGTAGACAGGATCATAAAAACACTTCAAGGGGTCAGAGTCCCCCGAATTCAAACTATATAACCTCTTCAATACTAAGTTACATGTGTAATTATACAAACATAAGAGTCTCAGTGCTACGTTCATTTTAATCTTATTTTAAATTCTTAGCCTCACTTCCTAGTTCAGAAGTTAGAAATGACAAAATTTATCTAAGAACTTTGCAGTTTAGCCCTGATGTGT
|
GTTTATGTGTTGGGCTCCACTCAAGCTTTCACTTGGAGAAAGGTCCCAAGGCCATTTCCTTTTTTAATCTACAAGACTAAAAAATTACCTCCAAGTACCCCAAGAAAAATGTAAATATTAATGAAGCATGAGATCACTATCATTCAGTATCACTTTAGCATGCAGAAGTGTGTCATTATCAGAGAGATGAGGTGTTTTTTTGGTGAGGGAGCAGTGGGAGTTGAGGCCATATTCCATTTTTTTTGTTGTTGTTTCCTGGGAAACTGTATGGCATGGGGTAGGCATTTACAGACTACTTCTTGAATGAATTTTGTTTTGGTTCAGGTACAGCCTTGAAGTGATTTCTGGATCTAGAACTAGGCAAAGGCCTTCATTCATTAACAACAAATCCCCTGTAATGTTTCTTCCAAGTGATAGTGTATTTTAGATTTGGTCTAGTATAAAGCAGAAATGTTGGTCTTATAAACAGGAGGACTAGTGTAGTACCAGTTATATTATCTTGGGCAAGTTAATTAGCCTTTCTGGATTTCAGTTTTTTCATCTGGAAAGTATGGACAATAATTCCTGCTCCTACTTACATTATGAGGTTGTTGGGTGAAACAAATGAAATAATTAATGGGAAATCACTTTATATGCAACAGTGTATATGTGTGTAAGGCATAATGAACATATTCCCATAAAGAATACAGACTGCACACCCAGGTACCCACCATCCTAGGTACCAAAATTTATAAGGGGAACAAATGAGCAGGGAACTAGATAAGAATTATAACTTCATTGACCCCATAGATCTTTATAATTTGTGCAAACCATTGCAGTTCACACATAGTTCGGGCAGCACAGTCCCGTCCACAACAGCCTCCACAATAGCCAGCTAACCTTGACAGTCCACTTGATGGACTCCTTACCTGCTTCCTCATGCTACTGTTGCACTGGGTTACATTACCTCATCTCATTTATAACTCTTGAAGTAGCCAAGGGAGACAGAAGCATTGAAAGAAAGAAAAAAGAAGAGAAAAGAAAAATCCAATACCATCTGAATTGTATATAAACTGCAATAACTGGGTTGCGTAGCATGTTCAATTCCTTTAAAGTAATATTCAGCCTCAAGCTTTTATATAGGAAGGTGAGCTTGAAAACCATAATCTGCTTATTTTTTAACCATCTACAGAGTGAAGGAAGCATTCAGTGCTACCCAACTGGCAGATTTCTCGAACATTCAAATTGAATTGTCTAAAAGCATTATTGTTACTTTTTTATTCATCTAGAAAAACCATTTTAGATATAGAGGATTCCTAGCAAATGAACTGATAATACATGAAAGTTTCAGGTAGCACAATATTTATCTGAAATAGTTGATCAAAATGTGTTCAAGGTTTCTTTTATCAATTTGTTTTCTTAAAATTGATCATGCGCTCAGATTTTTTAAAATCCGATTTGGGAGTTGGAAGGGATTTTAAGATCGTCTTGTTCATCCCTTTCATTTGACTAGAGGGAGGTAAGCCCAGTAGACAGTGGGGAACATCAAAATCATGCAGCAATGTACTCAGGTCTGAAGTCCAATTATTCCAATTTTAGGGCCAGAATTTTTGGAGAGCTAAGGGTTTTTATAGATCATTTGGTAAACACTTTACCATCATTTTGGTATTGATGAGCAGTTATGATGAAGCTATGCCCTATAGTGTGAACTCTTTCTCAAAACAAGCATATTACAAAAGTTTGGTGAATGTTGTTCCTTTCATGTAATACATCTGAATGAATGGACTGAAGTGAGTTCTCAGAAAAGTTGTTGATCATTAAAAAGGCTGGAAGTGCACACACTTACTTGTCTTTCATGAAGCAGGGATAAGGAATTGCTTGAACCTGGACTGCTATTTCCTGGGAGTTCCTTCCAGTTTGCAATTCAATGATTGCTCTTTCAATACTATCCTGTAAATAAATAAAAGCCCTGCCATAGATCTGGTTGTGTGATGGAGAATTGTGTGGCCCTGGAGCCCAAATCTTGGTTCTTAGGCTTCTTGTGGTCTGTGCGGTCTTGAGACTCATCCAGATGGTATATTTTATGACAGGAGGAAGAAAGACATTTCCAGAGTCATAGCCTCTGTGCCAGCTTCTGTTAGAAGGAAGCTTAAAAATAACACCTAAAAATAAAATGGCAACAACAGCAGAAAGGTTATTTTATGGTTGACGTTATTCATTGTTTGGAGAGTACACAGAGGGGACAGCCAAACAGTCAATTGAGTTAGTAATGTGACAGTAGGTTCAGGTTCTTAATTTACAGAAAACATGGTTAATTGGAGGTGTCAACCTCAGAAATTCAAAGCTGGAGTTTAAGAATATAATCACCAACTAAGTAGACAGATTAAATGCACCATTCTAAGCCACTTATTAATATAAAAACACTTTTAGATAAATAATGACTGATTATGAGGATGGACTCAACTTCACTCTGTAACTATGTAATCCTTTTCAATCTTAATTTGAAGTACACCAACAAAATTAGACATACTTAGAGATTATAGTTGGTTGCCTACATGAAAGGTTCTCTTTTCTAAGGACATCAGAGGACCTAAGGACCCCCACACTAGTTTTCTGAGTTCTGGATGAAAGACATGAGGAAAGAATTTGGCCAATTTTAGCACAAAGAGATGCTCAAACCCTAATAGAACAGCACTTACTTCCAAAGAGTTCGTTGCTTTTGTAGAGCCTTTTAGCCTCTCTCTCCATTTCATCTATGGTTTTTGCTGCCTGAATACGGTCATATAATACACAAGAGGAAATATTTACTGTCAGGGAAGATAGTGTGTTAAGCTGATCGATGATGTCAATGTTGTTCTCTAATTTCAGTCTTAGAATATCTAAAGAGGCAAAGCAAAAGAGACAAAAAAAAATTATGGTCCTGATTCTGGTCGTAATTAGATGAAATACTGATTTTTTGTAAATACTAAACTAGATTATAAATAACAAAAGCCTGCAGAATTTACTCTAAAAATATCTAGTATTCTACACCAAAGAAAATGGGTCGTTATGCAAATATTCATTGAGGAGCCAAGCTAGTTACAAATACAGTAAACCTAGGTTCTAAGAAAGATACAAGATAACTTAAAAGTATATTTTGTTACAATTTAATAACAAAGAACTAAGATGAATAAATTTTTAAAAATCTATCTACATGTAGTTAGGACAAAAACTATAAACCAGAGATGTGAGTTTAGAATAAACTAAACAGAAATGCCTGCTTTGTACACGGAATGTGAATGCACAAACTGAAACAAAGGAAAGTCTATGTAGAATGCATAGGATAAATAAACTGTATTATTACATAAGCTGTGATATAGAAACACTTAAGATACCTGAAAATATATGCCACATAGTTGTGAGTTTCTAATACTGTTTGACTTAAAATCTTATGTGTATATCTTAAAATTAATACTTTTGATATCTGTATTAATCTGACAAAATGATCAGGATTTTATTTTGGGTAATTACTCTGGAATAAAGGGGACTTAATTTCTCTTCAATTTTATGATTCTTTGTGAGGAAATCAACCGGGACAAAGGGTAAATATGAAATTGCAAGTTAACAAATCATTTGGCCAATTACATTTTTACTGACTTGATCATCATGAATGCTGAGAAGGCTGCGAATATCATAAATCCCTCCTTCACAGAACCCAGACATGTCTCTTACATCGTCCAAAATAGGACTAAATTTCTCACAGAAGACAACTTCTTAAATGCATTTCTCATTAGAATTTAAAGTGAAATGTTTTACTTGATGTAGATGTTGGTGGGGGAGGGGTAAATTGTGGTTGAACAGTGGCCTCCAGCGGCCACTGGAAATCAACACAACACCAAGGAATTATTTAGAAATTCTGGTAGACAGGATCATAAAAACACTTCAAGGGGTCAGAGTCCCCCGAATTCAAACTATATAACCTCTTCAATACTAAGTTACATGTGTAATTATACAAACATAAGAGTCTCAGTGCTACGTTCATTTTAATCTTATTTTAAATTCTTAGCCTCACTTCCTAGTTCAGAAGTTAGAAATGACAAAATTTATCTAAGAACTTTGCAGTTTAGCCCTGATGTGT
|
Task1_train_5418
|
The gene FN1, LOC126806496 (fibronectin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256), on Chromosome 2, contains a mutation. Does this mutation cause a disorder, or is it a benign change?
|
Pathogenic; Glomerulopathy with fibronectin deposits 2
|
ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT
|
ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACCGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT
|
Task1_train_5419
|
This sequence change occurs on Chromosome 2, altering FN1, LOC126806496 (fibronectin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:216240057-216241256). What is the medical significance of this variant — is it benign or linked to a disease?
|
Pathogenic; Glomerulopathy with fibronectin deposits 2
|
ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT
|
ATAGACATTTTTTGGCTAACTTTTCCAGGGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCAGCCATTCTCCTGCCTCAGCCACCCGAGTAGCTGGGACTACAGGCACCCATCACCACGCCTGGCTAATTTTGTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCTTTCCAGGGTATTCTTTTAACGTGGTCTTATTTGCCTTTTTGAATTTAAGAAAATCTATCAGCATCATATACCACCACTGGAATATAAATTTGAAAGAGAGTCCTGCAGATTATATACATGAATCTACTTAGGCCTAATAACCAAGCAGTCCTCAGTGGCAGATCAATGAAAAGTGAAACTAAAGGCAAGTGAAGGGTAGGAGAGATTGGCCAGTGTTTGTGCAGCCTCTGTGGGAAGTGTCTAGTTCAATTCCTCTCATGTCTGCTTCTATTTTCCTGTTCCCCCCAATTCTAAAAAGCCAGTGTCTCCTTCTAATGTCTGTATGTTCTGTGGGAATTTTAAAGTCCAGGTGATACTCTATACAGACTGATATGGTTTGGCTCTGTGTCTGCATCCAAATCTCATCTGGAATTGTAATCCCCATGTATTGAGGAGAGGAGGTGATTGGATCATGGGGTGGTTCCCCCAGGCTGTTCTCATGATAGTGAGTTCTCACAAGATCTGATAGTTTTGTAAGTATCTGGAAGTTCCTCCTGTGTGCTTCTCTCTCCTGCTGCCATGTAAGACATGCCTGCTTTTCCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACGGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGT
|
Task1_train_5420
|
The gene FN1 (fibronectin 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Glomerulopathy with fibronectin deposits 2
|
CCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAA
|
CCTTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTGCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAA
|
Task1_train_5421
|
An alteration has been detected in FN1 (fibronectin 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Glomerulopathy with fibronectin deposits 2
|
TTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCAGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAAAT
|
TTCCACCATGATTGTACATTTTCTGAGGCCTCCCCAGCCATGCGGAACTGTGAGTCAATTAAACCTCTTTATAGCAGTATGAAAACAGACTAATACAGATAGTTTAAATATTTCATCTCTTGGGCAAAAATAATACTAGAGGCTTATAGTCTTTCCCACCAAGGTAGACAACTCTTATTCCCCATTCCAGGCATTCTTCCAATGTGGGTGGTTGGGACTGCTCTGCCTCAAGACCTATCCTGTGATAGTGGTCAACAAGGTCAATGGCAGGTGGTGCACTGGCAAGTCCTGCAAGATTGCCATATCTATAGAGAGCTGAGTGTAATGACAGAATCACAATCAGCTAGTATGCTTTGAAAAATATCTTTCTCCAGGACTGAATTGACAGGTATCTGGCAAACTTGCAGCGAAAGGAAAACATGAGTCTAGTCATGCCATTAGTACAGTCTTGAAATTGCATTTTCCTTCACTCATGCCTTTTGGGATGTATTAGGCTCTACCACTCCTACACAGAGAATGCTTTTTGAGGTTATCAGGAACAGAGTTTCGCATTCTCATGACACAGTATCAAAGACGCTGTGGGAGTTTGCTAAGGACTTCATGTGTCCTAGGTAGTAAGAAGGAAAATGACAGCATGGAAGCAGCAATACCAGTAATAGTAGCCTCTGTGACACCAGGGCGGGGCCGAGGGACCACTTCTCTGGGAGGAGACCCAGGCTTCTCATACTTGATGATGTAGCCGGTAATCCTGGCACGTGGCGGCTGCCATGATACCAGCAAGGAATTGGGTGTGGTGGCCAGGAAACGCAGGTTGGATGGTGCATCAATGGCTGAAAGAAAACAAAATTAAGTCTCTAAGAAGGCAAATAACCAAGAAAATTACTCCCACACTTTTCTCCCGAGCCGTTCTAAACACACTTAAAAGAATCTGAGAATACTGTAAACCGGAAACAAGATTCTCTGGAATCTATAATACAAAAATATACGCCTCACATTTGTTTTTTGAGTTCATGAAACTGATTGCATACAAGTCAATGGCATTTCCTCAGTAGAAGGTATAGTTACCAGTGGAGGCGTCGATGACCACAGGGGAGCTCCGAGCATTGTCATTCAAGGTGTACAGGTAGATCTTGTAGTCAGTGCCTGGTTGTAAACCTGGGATTTGAGAAGAGATGATTTTTAACAGTTCTTGCTTTTTACTAGGAGAATTCTCAAGCTAGCCTGCAATTTTTCTGGGTTCTTCTATCATCCCATATTTATATAGACTACCAAAGTGGTCCACATTTGAACAGTAAAGTAGAGCATGCTATGGATGTTAACTGTTAACAAGAAACATATCTCGAAAGTGAATCACTGATACAGACAAGGACACTGGTAAAGTAAATTCTGGAATGCAAAAATGCTATGTTGGAAGAGGCCCTCTTGCAGAATGGGGGTCAGCCACTTATTGAGGTTTTCTCTTTACCGTAATCAGATGGTCAATAGTTGAGCCTTGGAATCACAATTTTAAAAAGCTAAAAAAGACCTCAGATATTGAATATTCTTCGGTTACAATTTTGGCCTTTATTAAGTGGTATTGTTTACTTTTATATTAACTATGCTTTTTAATGCTAAGATCTATACATCACTGTTTTTTATTTCTTTTAGTTTTAAACCTTATGTTACAATTTTTTAAATAAGAAAGGGCACAATGATGGAAGATCAAACTTGTTGATTGACACTTACGCAATTTCCATGACAAATATTACACAAAATCAGGCATTCAAAGGACAAAACTATTTCTGATCATAGCATGAAAATAACGTTCTAAAACTGGGTTATGATGATAACACTGAAAATAAATTTTATCAGTGTCAGTCGTAGAACAGTTAATAAGCCCGTTTACATTGTGGGTATTTGTTAACAAATGTGGTTAGTGCAATGAGTTCCCTGACCTGTGATGGTGTAGCTTCTGACATCTGGCTTGATGGTTCTCTGGATTGGAGTCTGGCCATTGGCTGGAACGGCATCAACTTGGAAGCCAGTGATCGTCTCAGTCTTGGTTCTCCTGCTAATGGTGATGGTGGTCTCAGTAGCATCTGTCACACGAGCCCTTCTTGGTGGGCTGACATCTGCACAGGAGCATAGCTAGAGATTAGTGCCTGCTTGGCTCATCCATGTAAAGTTTTGGTATTTTAAAACGTTTCCTTGGTATATATCAAATTCATCCATTTCAAGAAATATATAACTAGTAATGTGTAGATTATCTCCTTTGGCATTCAGAGAGAAAGGTCAACTGTAATTAGAAAATAGGAAAATATCTACCTCTCAGACATTTTATTTTGAAGAGCTGAAAAGCTTTATAGATACTACCAGTGGTTCCCAGGGCTGGCTTTATAGTATCTACAAATACTTCAATAAATATTAAAATTATTAATGTATTATAATGTAAAAATATGTGTGGTAGGAGTTACAATAACATGGCCAGCTAACAATTTTGTGTGTGTGTGTGTGTATGTGTGTGTGAGAGAGAGAGAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTAATATTACGGCAAGTATTTTGTATTTTCTCTCAACAGGTACAATGCCATCCCTCTTTTATAAATGATAAAACTTTGACACTTTACCTGACTTTTGAAAAGGCATACATCAAGGTATTGATATAACAGAAGACTAGAATCTAAGCCTGATTTGGTCCAATGGTTACTGTGCTGTGATATAATTTGGATATTTGTCCCTGTCCAAATCTCTGTTGAGTTGTAATCTCCAATGCTGGAGGTGGGGCCTGGTGAGAGGTGTTTGGATCATGGGGGCAGATCCCTTGTGGCTTGGTGCCCTCTTTATGACAGTGAGTTCTCAAGAGACTGGGTCATTTAAATGTATAAGGTCCTCCCCCCCCAACTCTCTCTCTCTCTCGGTCTTGCTTTTGCCACAGCCATGTGATGTGCCTGCTCCCCCTTGGCCTTCCACCATGAGTAAGCTTCCCAAGGCCTCCCTAGAAGCCAAGAAGATACCAGCACCATGCTTCCTGTAAAGCCTGCTGGCCTGTGGGCCAATTAAGCCTCTTTTCTTTAGAAATTACCCAGTCTCCGGTATTTCTTTATAGTAATGCAAGAATGGCCTAATATGCATTGTTAAGATATAGCAGAAGCCAGTGGGGTCTCCCCAAGCTTAGCTCTATGAAAACAAATTCTAACAAGTAGAGCATAAACTAGATGTCAGTCATAGTCCATAATATCAACATTATAAGCTTATGAAGTGATTCCATTTTATGGGTCAGTAGACCCCTTTCTGAAGGAGTATAAAAGATGACAGTCATGCGTCAAAAAGGCAATCAAATTGATTTTCAAATTAGGACTCATTCCACTGTTAACATATAAATCTAAAAAATTATTTATTTTATTTATTTTATTTTTTTTAAGAGACAGGGCCTTGCTATTTGCCCGGGTAGGTCTCAAACTCCTGGCCTCAAGTGACGCTCCCGCCTCAGCTTCCCAAAGTGCTTGGATTTTAGACATGAGCCACTGAACCCCACTGATTTACCATTCTTTAATTTTTGTCTATACAGAAGGTTTGTCCATATGAAGACATTTTGTTACTTACTCTCCAGAGTGGTGACAACTCCCTGAGCTGGTCTGCTTGTCAAAGTGTCCTTAAGAGCATAGACACTCACTTCATATTTGGTGGCCACCTAGAGAAATAAGGGCATGGTGAGCTTTAGCAACGTCCTCAACTGAAACCCAAGGAGTTTCACTACAGCATTAGGTAAATGCAATGGTTAGAAAATAAAAAATAAACAAACCAGCAAAACCCACAACCTTGAAAATTCCTAGATTAATTTCATTCCTACAGTGCAGGTGATAAATGTATTTATCAATTTTAAAATGCTCTTAGCGGTTAAGCTTAAGTAAGCCATAGATTATATACTTAAACTAAGCTGGTAAAAAAAATGAGAAAAGTGGGTATTAGCGTATTTTTCTTTTTTATGATCTGACAGGTGTAAATCATAATTTTTTCCTTATCATAGAGAGGCAAAGAGAATGTTCCATTTTGTCTCTGAACCCTCTTTCTGTAGTTTCCCCTGAAAT
|
Task1_train_5422
|
Here is a mutation in FN1 (fibronectin 1) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Inborn genetic diseases
|
TTTAGTAATTTCAAAAACATGCAAGCCTTGTGGATGTTTACAGCCTTAGGGAGTGCTTAAAGTTCAAATGGAGTTGTAGAATACCCTGCTTACATTAGTTTATTTAAATATAAGCTTCATTTAGCTGTTTTTATTATTATTCCTTTCTCAATTATCTATTCACCAAATAGTTTTTGAAAGCATACAATGTTCCAGACACTATGTTAACCTTTATCTAATAAAATTAGTTTTGGCTATCAGTACTTCAGTTAAAATCATTATATTTTATATGAATGTATTATGCAAAGCATAAAATAATATATCCAATATATCAGTCTTCAGAAGTACTTGAAATATCTTGGCCCACCACCTTCCCTTAATTATTGTTAGCATCATTAAAAATGCTTTTTCTTTTATAAGCACTGTGTTCAACAAAAGAAACTACATAAAATATGTCTCATGTTAAGGAATGAACAAGACAACTATAGAATTCTACATTTTAGTAAAAGACGACATCTACTGAAAGGGCGCATTCACTGAAATCTCCATTCTAATTCACTGAAGGACATTTATAAGAAATGAATATTTACAAGAAATATAAAGACATTAATTTCATGAGAGTAGATCTTAGACTATCTTAGAACCGTGTAAAATTTTAGCCAAATTTTCAAGTAAGCTTATTTGCAAATTAAAAGTGAATTTTACTTGCTTACGATTAACTATTATTTAGGAAAAAGCCTTCATGAGCCAAACTTCATACAGTAAATTTAAATGGAAGTAAGTTTTTCTTAAAGTATGAATTCTTATGGGGAAAAGTTTGTATTTTCTTTGGGAAATCAATTCCATAGTTATTTACAAACTAGGCTTGTATGGACTTTTTGAATGCTTTTTAACATCCATACTTTTAAATTAGTCGAAGAGTAACATTTGTTGAAAGCTCTTAGAAAATTGCAAACTAGTCCATGGTTAGAATATATGCTGAAAAAGTACTTATGTTAGGTGCTTCTATAATTCAAAATGTCGAGTTGAAAATAACAAATGATGTTCAGCTAGAAATAAGGAGTCTCATAATTCTCTGTAATGTAAATGGAAATGTATTTAATAGGAATCGGTTTGTGAATAGAGGTTGTTATTGTGATGTAGATATGTGGGAGATTTAAGACCACTTCCTTTAAAATGTTGAGCAAAAGGATAGACATGACCAAAAATTATTGTTAGTATTTTTCTCCTCTGAGGAATTTCAAGAGTAATTTAAGAAAAGAGCGATTCCGTCTGCAAAAGTACTTTAATCTTCTGCAGCCAACACTCATAAAGAAATCATTTCCTTGGCTTCATGTTCAATTAGTTGGTTCCCATTCAATCCATAGATATTTTTATTCTGCATTTATAGTTACTATTCAATGCCCAAAGTAATAGAATGTAGACATAGGTGCTAATTTTTTCTTGCGTTAACTAGTGTTTGGTAAATTCATTTAATGTAATCGAATTTAATTTTTCTAATAACAGACTGCTTTAAACCCATGTTACTCAAAGTGCTGGCCCTAGAGGAAAGAGCGAGCTTGGCAATGTGTGCAAATTAACACACTGCTTCCTTCATCAAGAAAATCTGGCTTCAGAAAAATTCTCAGCTGTACTAAGCAGTGTGCTTTGTGATTTACGTTCTGGCACAACCGTTTTTCTTGTTGCAGACTAGCAGCAAACAATTAACGGGCCAGCAGCCAGTCTATGGAGCACATTTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCT
|
TTTAGTAATTTCAAAAACATGCAAGCCTTGTGGATGTTTACAGCCTTAGGGAGTGCTTAAAGTTCAAATGGAGTTGTAGAATACCCTGCTTACATTAGTTTATTTAAATATAAGCTTCATTTAGCTGTTTTTATTATTATTCCTTTCTCAATTATCTATTCACCAAATAGTTTTTGAAAGCATACAATGTTCCAGACACTATGTTAACCTTTATCTAATAAAATTAGTTTTGGCTATCAGTACTTCAGTTAAAATCATTATATTTTATATGAATGTATTATGCAAAGCATAAAATAATATATCCAATATATCAGTCTTCAGAAGTACTTGAAATATCTTGGCCCACCACCTTCCCTTAATTATTGTTAGCATCATTAAAAATGCTTTTTCTTTTATAAGCACTGTGTTCAACAAAAGAAACTACATAAAATATGTCTCATGTTAAGGAATGAACAAGACAACTATAGAATTCTACATTTTAGTAAAAGACGACATCTACTGAAAGGGCGCATTCACTGAAATCTCCATTCTAATTCACTGAAGGACATTTATAAGAAATGAATATTTACAAGAAATATAAAGACATTAATTTCATGAGAGTAGATCTTAGACTATCTTAGAACCGTGTAAAATTTTAGCCAAATTTTCAAGTAAGCTTATTTGCAAATTAAAAGTGAATTTTACTTGCTTACGATTAACTATTATTTAGGAAAAAGCCTTCATGAGCCAAACTTCATACAGTAAATTTAAATGGAAGTAAGTTTTTCTTAAAGTATGAATTCTTATGGGGAAAAGTTTGTATTTTCTTTGGGAAATCAATTCCATAGTTATTTACAAACTAGGCTTGTATGGACTTTTTGAATGCTTTTTAACATCCATACTTTTAAATTAGTCGAAGAGTAACATTTGTTGAAAGCTCTTAGAAAATTGCAAACTAGTCCATGGTTAGAATATATGCTGAAAAAGTACTTATGTTAGGTGCTTCTATAATTCAAAATGTCGAGTTGAAAATAACAAATGATGTTCAGCTAGAAATAAGGAGTCTCATAATTCTCTGTAATGTAAATGGAAATGTATTTAATAGGAATCGGTTTGTGAATAGAGGTTGTTATTGTGATGTAGATATGTGGGAGATTTAAGACCACTTCCTTTAAAATGTTGAGCAAAAGGATAGACATGACCAAAAATTATTGTTAGTATTTTTCTCCTCTGAGGAATTTCAAGAGTAATTTAAGAAAAGAGCGATTCCGTCTGCAAAAGTACTTTAATCTTCTGCAGCCAACACTCATAAAGAAATCATTTCCTTGGCTTCATGTTCAATTAGTTGGTTCCCATTCAATCCATAGATATTTTTATTCTGCATTTATAGTTACTATTCAATGCCCAAAGTAATAGAATGTAGACATAGGTGCTAATTTTTTCTTGCGTTAACTAGTGTTTGGTAAATTCATTTAATGTAATCGAATTTAATTTTTCTAATAACAGACTGCTTTAAACCCATGTTACTCAAAGTGCTGGCCCTAGAGGAAAGAGCGAGCTTGGCAATGTGTGCAAATTAACACACTGCTTCCTTCATCAAGAAAATCTGGCTTCAGAAAAATTCTCAGCTGTACTAAGCAGTGTGCTTTGTGATTTACGTTCTGGCACAACCGTTTTTCTTGTTGCAGACTAGCAGCAAACAATTAACGGGCCAGCAGCCAGTCTATGGAGCACATTTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTACATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCT
|
Task1_train_5423
|
Given this variant in gene FN1 (fibronectin 1) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Glomerulopathy with fibronectin deposits 2
|
TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA
|
TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAACAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA
|
Task1_train_5424
|
With a mutation on Chromosome 2 in gene FN1 (fibronectin 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Spondylometaphyseal dysplasia - Sutcliffe type
|
TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA
|
TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAACAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA
|
Task1_train_5425
|
Given this context: Chromosome 2, gene FN1 (fibronectin 1) — does this variant present pathogenic behavior, and if so, what disease does it relate to?
|
Pathogenic; Glomerulopathy with fibronectin deposits 2
|
TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAATAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA
|
TTTTAGTATCACTGATTTAAATTATGTACTAATTTTTTAATGTTTTTTTTGTTTTGTTTTGTTTTGTTTTAAAGCATGAAGAATAGAGAATGTAAATATAGTTAAGAAAAGGCACTTAATTTTCAGCTTACGTGTGGTAAAGACTCCAGTGGCTTTGGGGCTCTCTTGGTTGCCCTTTATGGCCACGAGGGATACGGTGTACTCAGATGCAGGCTGCAGATTCCTCAGTGGGTACTTGGAGACAGAGGGACCCACATTGTACTGCCTGGGCTGTCCTCTTCGGGTAAGGCCCACGGTCAGTCGGTATCCTGTTATCTGGGCCCGAGGTGGAGTCCATCTCACCAGGACAGTAGAATCAGTTTCATTGACAAACTGGAGGTTAGTGGGAGCATCCAGTTCTAGGAAAAAAGATGAAACATGCCAAGAAATATTTAGATCAGTAATGATCATAACTCAAGTCCTGAAACTTGATTGAATGTCTAAGTTTTCTCTCCTCAAGGTTGTAACTATGTGAAAGTCAAAACCCTGGAAAAACTGAGCCAGTAAGAGATTGAGTGCTACACAAAACTTTGCCAAAACTCTGCCAGTCATGAGAAATTGTGGAACCATTTTGCTTGACTGTGATCCTTTGGGAAGTCTAATTTTCCAGCAAGACTTTCGCATCAGTCTCAGAAATTATAGTTACATTAAAGCAATGGTATTTTTAAAAAGGCAAAACAAACACTTCTGAAGTTCACAGTTAGCTCTGAGCCAAACAGATTAAGGAAAAAGGGATATGCCTCCTAAAATGACAGCAAGAAGAAGCTCTCTATGGGTCAAAAGCAATATTCTGTGAATAGCCCTTTGCTAGAGAAATAAAAGTTATTTTCACATGGTTCAGATTAGACAGTAATTACAGTAATGATAACGTATCCTCAGATTCATGGTAGGATACTGGTGAGTTTGCACTATCAGAATCACATAAGTTGTGGAGTTTATTCTTGAGAATAATAACCAGCAGTTTTCCCACCGAAATTTAAATTACCTTTCAAATAGAGGAAATCTTTAAGAGGCAGTCGAGTATAATAATTGAGAGCATGGGCTTCGGACATAGGTTATAGAGCCAGCTCTATCCCTTCCTATCTCTGTGACCCTACAAGTTGCAGAACTTTTTTAAAGCCTCAGTTTCTTTAAGTATTCAATACGGATACTAGTAAGACCTTCCGGCTGGGCACGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGTGGGTGGATCACTTGAGGTCAGGAGTTTCAGACCAGCTTGGCCAACACAGCGAAACCCATTTCTACTAAAAACACAAAAATTAGCAGGGCATGGTGGCACACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGTGGTAGAGGTTCCAGTGAGCTGAGATGGTGCCACTGTACTCCAGCCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAATAAATAAATAAAATAATAATAATAAGACCTTCCTTCCTAAGGTCAAAACAAAGAGTAAATATGAGAATAATGCTTGTAAAAACTGAGCAGATAAGCTGGTGGCTAGTAATACTAGACACTTGACAATTGCTATTGTTAAATGAATTCTACTCTAAGTGTTATGATCCTGCATTTTAACTTTGATCTAGATATATTTAGTTACACGAAAAATGCACTCAAATTAGATTCTCTTCAGTTCTCCCCTCTTAGTACCCTTCAGCTGGTACATGTATTTTAGAAATGGGTTACCACTTAGCATCCATGGAGCTTGTCTGAGTTTTGTTTTCAAGTTTAATGTGCTTTGTGTTCACTATGCATTCCCTTGCCGGCTGGGTATTTCCCTCTCTCTAAGCCATACACCTCTGAGTGAATGGTTTACTGCACTTTCTCACAGGCTGCAAGTGAGGGTGGAGAATTTGGAGGGGAGATAGAGATAGGAGAAGACATACTGGTTGTCTGTTGAGCAGTCAGAGGCTTGCTCTCCCTCCCATGGCTCACTGCAAAGACTTTGAAGTAACAGGTGACCCCAGGGGACAGCCCGGTGACTTCTGCAAAGGTGTTCCTGCTGATGGGCAGCCTCTGCCCGTGCTCGCCAGGCAGGTTGACGGGGATCACATCCACACGGTAGCCGGTCACTGCACTCTCAGGCGGTGTCCACATGATGGTGACCTTCACGTCTGTCACTTCCACAAACTGCAGGTCCCTGGGAGAGGGCACTGTATCTGACAGACAAGAGTCAACTGGTCATTCACATTCTCTGCTGAAGATTACTTTTAAGAAGCCAGTTTCTTGGATATGTTAGGCAGTTCATTGAGCCTCTCATTCGAGAGTTTTGCTAAGTTTTGTCTCTTAATCAGATCACATTTTCATGGTCCAGTCATAGTGCTTAAATTATGACATTTGAACCTTTTATCTAAAATAGGTAATAAGTGAGTTACCAGCATATGAAGTGTCATATGGTGGTGGGGGGAGAGGGTTATAAGAAAAGATACTAAAAAATTTTTTAGAAAAAGCCTTTGAAATAACTGCAGAAAATAATGTAACAGTTTTTGTTTTACTGAATCATTTTATAATACTTAAGAATCAAAAATGAAATGACCCTTAAGCTTCTAGGGGAAAATTTGTAGATGGACGTTATGGTGTCAGTTTTTAATCAGAAAGGCCAGTAGCCAGCTTTGATAAGTTACTTATGACATTTCAGCTAAATATCAGAAGTTTAGGGAAAAACTAATATATAAGATTTCTTGAATGAGAGGACTGTTGACAGAGACAAAACAACCCTCCTTCAGGAACAATCCTGATAAGATAACATAGGAAGTGTCTTCTTAAAAAAGTTACCTGAGCGTGGGGTGCCAGTGGTTTCTTGTTGAATGACAACAGGTGTACTTTCTTGATTTTCTTCCACAGCATAGATAGTGATGTTATACTGAACACCAGGTTGCAAGTCACTGAGGGTGACGGAGTTTGCAGTTTCAGGAAGGTTGAGTTCTGTGCTGCTACCTTCTACTGATGGCGAATAGACTATTCTGTACCCTGCAGATTCATGAGCAAAAGTAAGATGCACTGTTTTCTTTGAGACAGAGGCTTAGAAACACCATAAATCCTCCCTTTTCTAATATCCCTTAGCATCTTGCTTGATTAGTGAAGAGCCAGTGATACTTTTTGACTCTTTGAATATTGCCACTTCTTCTAATAATGACTATTCAGCACGAAGATAAAATAAGAACAGTCATGCGAACCTTTTTAATAATAAATGTCATCCTTGAAGACCTGACATCCTTAATAAATGTCAATTAGAGATGCCATTAGGTGAAAATATTCATGTTAAGCTGATTTTTCCTCTTTGAGCTCCAGACGAGGGAAGCAATTAATGAACCAGCCTAAGCAGAGTTGTCTAGCACTGTGTGTGTCTTTTTGGAACTTCAGTGATGAGGCAGTTGAATCACCTAATGAGCTAAGACGACAGCTCAGCTTTCTCCTTAAGGATAAATCTTAGAGCAACGTTTTCAGGAAATTACACCTCTTCAACCCTGGGAACACTTGCTTTAATAAGCCAATGAGCTGGCTTTACAGGTTGTGTGTATGTTGTGGTGTGTGTGTATAAGGGAGTTGGTGAAATGGTTTCAAGGGGAAATGTGCCATAGAAAATAACTCCCCCACCCCCGCCACACACACACACACACACACACACAAACCCCTCTCCCATAAATTATATTGGAGATTTAAAGTGATATGCAGGTCCGCAGTCAGAATCTGCGCCCTCCCTGCTGATGTCATTAAGATTAACATAGCAGCCAAAGAGGGGGACGCTTAGCTGACCTGTGATGGGAGCCTGGGGTCTGCTCCAGCGAACAACAATTGAGGTGTCATCAACTTGGTCCACAGTCGTGTCAGGAGGGGCATCAGGCGCTAAGAAAGAAAGAAAGTGGGGCAAACAGTCAGGAAGTGCTACTACAGGCCTGTGTTTTACAGAAAAAGATTCTTTTAACACTATGTAGCACACATGTACCTGTTGTTTGTGAAGTAGACAGGATCAAACTCTGCTCCCCATCCTCAGATATCTGA
|
Task1_train_5426
|
Located on Chromosome 2, this mutation impacts FN1 (fibronectin 1). What is its biological consequence — is it benign or pathogenic, and which disease is associated if any?
|
Pathogenic; not provided
|
GTCATCACTGTTTATGGCCTGCCTTTCAATAGGGACCTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGCAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTACAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCT
|
GTCATCACTGTTTATGGCCTGCCTTTCAATAGGGACCTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGAAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTACAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCT
|
Task1_train_5427
|
Assess the clinical impact of this variant on gene FN1 (fibronectin 1), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; not provided
|
CTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGCAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTACAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAG
|
CTTGCTTTAGAAAACTAAAAACAGGCTAAGCGCGGTGGCTCACGCCTGTAATCCTAGTACTTTAGGAGGGTGGATCACCTGCAGTCAGGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCCCCGTCTCTACTAAAAATACCAAAAAAAATTAGCCGGCTGTGGTGGCGGGCGCCTGTAATCCAAGCTACTCGGGAAGCTGAGGCAAGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAATGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCGACAGGGTGAGACTGTCTCAAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAGCAAACAAAAAAAAGCTTATAACAATGGGGAGGCAAGCAGGTATCAAAGGGTCTTCACCAATGGCTACAAAGAAGCTATAAGAAGGTGGTAGTATCTCTTTCTTCATTTGTTATGTAAAAAATGTAGAGGATGCACAATTTCTTTGACTAAAATATTATTTTCCCTTCCCCTATACCCAAACATCTACAGTATTTAAAAATCACTAGCAAAATAGCCCCAAATTATTCAGTGTTAGCCCTCCACTGGAAGAGTGGGATCAACATAAAATGATAATTTGTAACTAAATGACCATTAGTCTATGCGTGCATTTATCTGGTAAATAGATTATTTAAATTATAATCCAAATTTGCTCTGTGCCACGATGTGAGTATAGAGGATCTGATGTCTTTGTGAATTGGATATTGTTGCAACTCCTGGGTTAGAGAAAAAAAATTAATAGTTGATGTAGGTTCAAACAAATACACACCCACATCCATCTACCACAAGAATAGAAGTTTGCATGAAGGTATAATTACTGATTAGAGCTTTTTCCCAAATCCCCAGCGAAAAGTATTATCATCCCCTGAACCTCCATAGCACTACTTTCAGTATTTCTGTTGAAATCTTTAATACTGTGTTTTGCAGATGATAAATATGTATAAGACTTTCTCATCTCCCTGACCCCCTAAGTACTCTTTGAAGGCTGGGCTAATGTTCATTTCATATCTGCACCCCTATAATACCTTGAACAAAGTAAGTCCTTATAAAATTTTCTGGAATAAATGACTTCTCTTTGAGAAACTTTTCCCAACTTGCTATTTAAAGAGTTCTAAATAACAGATAAGGTTTGAATCAGACATCTAATTTGTCTTAAGCTAAAATATTGCCACAAAGATCTTGGAAGTCTGATGATCACAGTAACATTTTAAATGCAAAATATCTAATAAACCAGCAAGTTTCTGGGAAAGCTTTGGTCAAAATGGTTACCACTTTTCATGAGAGACCTATTTTTGTTAGCAAAGAATTTGAATTTGGATGATGGCTATGTTAAAGGTAGTTAAATGGGTTCAGCTAGATAAATAAAACAGGTTCAAATTATTTGGATTTGATTTTAAACTTATTTACAACACCAGTAGTTAATGGCTGTTTTACTTCAACAAACTCTCTAGCTGTTATTAGTTTACAATATCAAAAAAGGAGCCTTCAAACCCAAAGGCAACAATTAAGACCCCAAGACAATCTTAGAAGGAGCAGTAAAGACACCAGAGGCCAGCTTCTTTACAGCACTAATCAAATGCGTTAGGTCAGAGACACTATCCCTAACTCCAGAGTAGATAAATCATTTTAATTTATGGGATAAATTCTTTTTAATTTTATCAATTTAGCCTGTGAATGTGCCCTATTTAAATTTCAAACATAGAAGGAAACCTAAACCTTTTGTTCAACTCTATGTCAGTGGCAGTGAGCTGAGATTGAACCTTATCAAAGTGATATGTTTTTCTATTTATGTAGTCTTCTCTGAAGATGCGGAATAAGTTGGTTATGAAAGTTTTCTTGACTTCCAGAAGTTACCAAAGCATGCTGATATACTGGATGTGTTCTGAGTAACATAGTATTACCCTTCTCTCTAGGAATCCAGAAAACAATACCTGGCTTAATCTTTAACATAAAGATGTAAAACATACTTCTAGAAGTGCAAGTGATGCGTCCGCTGCCTTCTCCCAGGCAAGTATAATCTACCATCATCCAGCCTTGGTAGGGCTTCTCCCACGTTTCTCCGACCACATAGGAAGTCCCAGCAGCATGATCAAAACACTTCTCAGCTGTAGGGAAATTTGGAAGAAAAACAGGAAAAAAAGGTTATTTTGAATTGTGCAAGCTCCCTGTAATTTAAAGTGTAGTGTGTAAGCAAAAATTCAGCCACATTTTTTTTAAGTGGCACTCTGTTCAGAAAGAATGACACACCCAGCATCTAAGCACACAGTAAGTAGCCAAGGCAAAAGAAAGCTCAAGCTGAGTTGGCAGGCAGAAATTCCATTCTCCTAATAAGTACATGGACTACATATTTTCAGCGAGCCCCAAACTTCCCAGCAGCATTTCCAGTAGCAAGGATCTATGTATGTATCTAGTCTGTGGGAGACTACATATGCAAAATTCCAATCTTAATTATAAATGACCAATTATGAATTTTGAGTGGCCTAAATACAATGACAAAGAAAGCTATTTTTAAATATTGGAAAGCAAAACAATACAAAACAAGACAAAAACCTCTAAATTAGAAGACAAGTAAACAGAGTAAAATTTATAGCCAGAAACTTTCAGGCTTGTACTTACAAAATTCAACTGAGGATTGAGATCCAAAGAAGCTCAACAACTTTTAATTTGAAAAGAAATGAGCAGAGTGTGACAAGCACACACTATTTCATGTTTCGGTCCAGGACATTCCATATAGAAATGTGTCCAAAGTGTCATTTTTTTTTCTTTTAAATAAATTATATCTTGACGAAGGAGGAATCTGAGATCAGCTATTAGGTAAAAGAAATGACTCCATTCTAAATCTTTCAATTCTACCTTATGCTTTTGAAGCAAAGTTAAGACTTCTATGTGTAGTCAGTACTTTTTGATCTAACTCCTGTAAGAAGACTATGGATTATATAATAATTCATTATTTCAAACAAAATTCCCATTTCTTTATTGGTTTTCACTGGAATTCAGGTCTATGACCTATGTAGATGTGATTCTGGTCCAACCCCACATTAGAACTAAGCATCCCAGCTCTTGCTCAGCCCTAAGACTCACACACCTATGGGCTTGCAGGTCCATTCTCCTTTTCCATTACCAAGACACACACACTCTAACATGTAACCACCAGTCTCATGTGGTCTCCTCCAGGTGTCACCAATCTTGTAGGACTGACCCCCTTCATGGCAGCGGTCTGTTGAAGATACAACGAAAATGTTAGGAGAGGGCAGAACAGATTTTTTTTTTTGGTCTCATATTCCACCCATGGTAGGTACTTAGGTTGGCTAAAGTAGAGACACAGACAACAGCTTTCCCATCAGAGACAGGGGAAACGTTAACAGGTCTGGTCACTTGGAGTCAATTCAGTTAAGTGTCTTGCTTAGAACACAATGGAAAACCACAGAGAAATCTGGATGGCAAGGAAGAGGTCATGAATCCTGCTTTCCCAGAGAGATCACAGGAAATTGGGTCCTAAGCAGAAAAGAAAGGCTGGGAGGCTTGGTCTTCACTCATACACAGCAGGCTAAGACTGAGACTAATTCAGTGAAAAGGCCACATCAGGCACAGCACTCCAGCTTTTGGGAGCATGGAGAGCCTGTATTTTACCCTAGGATAGAAATGTCATTTTGGTGGAAAGCAAACAGACATATGCATATAAAGTGTGGAAATCCTGGTAGTTTTCTAAGTTGTTAAGCCCAATGGCACATTCAAATGCTGAACTAGATTGTAAACACTATGGACCCTTGCCTCTTGCGATTTGCCTGTGAACTTGGATAAACCCTAACATGAAATATGGGGAAAGTTGATTGGGCCTATTCACACGGGACTTGTTCTTTTGAATAGAAGTCTTTAAGACGACTTATATTTAAAGAATGGATTAAAAAACTTAAATACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAG
|
Task1_train_5428
|
Chromosome 2 houses a mutation in gene FN1 (fibronectin 1). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
|
Pathogenic; Spondylometaphyseal dysplasia - Sutcliffe type
|
ACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAGTGACATCTGCTTCCTGGGTATAACCTACTGGTCACCAAGAAACCAGACTGTTTCTGTGAGGTGCAAGAGGTCTCTGCATTGCAAACATGAAGACCAGACAACACATGGCTGGTTCACTCTTCATGAACACCTTCCCAGTCACTGCAGAAAAGTCTCATGATTTGTCTAGCTTGAAGATATCCAGGTGATTTAAAATGGGCAACTCCCCTAAGCATGTCTTACTGAAATGGAACCCAAGAGGTCTCTTGGTTCTACTATGTACAGAAACACACACACTCATAAATGCACACACACTCATAAACGCACACACATCAAACACTGATTCCATCTGTGCTCATACCCGTCTTTAAGAAACACAGGAACCAGTTGGGTGACCACTTAAGAGTACCTGGTCACCAGGGGCAAACCTCAAAGTTCGGAATATCCAGTCATGGATAACAGAAAATGACAGTGATGGTAACAGAGAAATTCATATTTGATATTTTGGCATCATTTTACACAATCTCTTCCTTACTTGCGATGGTACAGCTTATTCTCCCTCGCCCAGCCCCGATGCAGGTACAGTCCCAGATCATGGAGTCTTTAGGACGCTCATAAGTGTCACCCACTCGGTAAGTGTTCCCAGTGTACTTGTCAAAGCAAGTCTCTTCAGCTGAGGGGAAAAGGAAAGTCCATGTGAGCCTCACTTAGGTACAAGCTTTTCTAGTTCACTAATCCCCTCTAAAGGAAAACCCACTTCTCTATTCCACAAGTAACATGGTACACCTCAAAGAATAAAATGAAGTGAGAGATACAGATTTTTATCCTAAGCTCTAATAAGGCCATGGTTTTTGACCTTGACATATTGTCAAATTTTCTGTAAATTATTCATATTGTAGAAAAATCTCAGGCTCTTAGGAAAAGGCCATATAAAGTACTAACTTATGACAGAGCTAGATTTGTGAAGGGTTTCACATTCCAATCTCTGACTCAGAAAGTCAAAGCAAGGTTCACATAAAAAGCAAACGATTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCACCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGTGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACAAAAACAAACAAACAATTCGAAGATCCCCACCTCCCACAAGGCCTTGACAGTTGTTAATCCTATGATTTCCATTTTCCCCTGATCAGTGCTTCTCTGACAGAGTTGCTATAATTTATGAGAAAAATATCATTGGTCCTAAAGGAATGAGAACTTTGAAGTGGCTAATGGTTTTGTGTTAACTGCCGCTGACAAATCATTTTACGATGTAAGTCCCCAAAGTGTTTTCTGGCTCATAAACTAACAGTTTAAGATTTGAGACTGCTTTCTAATAAATTAAAATTTTATAAGCAATTTTTTTTGTCGGAGGACACACAAAATCTTTCATTTTTCTCATCAAAAACTTTGGGAGAGTAAAGCAAAAAGAAGACTCTAGGAACTAATTTGGGAAAGATTCGTTTCTTTGTTTTAAAGGTAAAAGCATGTGAAAAGCAAATATAAGCAGTTTTTAAACTTAAGAGGAAATGACAGGTAATTCTATTAGAAAAATGGTGTATGTATTTTTACTTACTAATGCAAAGTTTAACAATTACCACTTCATGTATTAAAAGATACTAACTATGGGGCTTGTTGTCACTTACCTTCAGGTTTACTCTCGCAGTTAAAACCTCGGCTTCCTCCATAACAAGTACAAACCAACGCATTGCCTAGGTAGGTCCGCTCCCACTGTTGATTTATCTGATAGTGTTTTCCATTGTCATAACAACCGGCTGCAAATAATTGAAGGAAAACGTTACATTTGCATTTCTCCTTTTCCCAAAATTATGGAATTTTCTTCATGTGAATATTGACGTACATATTTTTTTCCTTTTAACTTTGCTAAAAGTTATATACAATGATGTCATTTCCATCTGGCCAGGGGTCTACATAAAAAAGTTGGAAACATTTTGGAAGGCAGACAATTGAAGTCACATTTTTAAAACATGCAAGGAACTTAAATATTCTTTTGGAGTAATAGTCAAAAAGGACAACTTTAAGCAGCTTTCTCAAAGCAAAAGGAGGGTGTGTCTTTGAAAAACGGAAAGAATTCCAACCTCTGTTCTTGGTGAAGTATCCTGAGCGGCCCTAAAGAGGTCTGAACCAATTACATCTCTTCCAAGTTAGTTAGAAACAAGACAGCTATTTCAATACCCCCTTTCCACCCCCATGTTGAAAATATTTGACCAATTATTTAACAGAAGGAAATAAGTAGCAGTAAGGACCACACTAATCCCAGACGGAAAATTTATAGACATGCATCATTTTTCTCTTTAAAGGCAAGTTTTGGTTAATTCCTAGAAGGACAATCTGAACGTGCAGAATTTATTAGAACACGGGAAAGTCGCAGAGTCCTCGTCCTCCAATGCACGGTCTTATCATCCCAGGCCCTCAGAACCAGCGTGCTCAAAACTCGGTCCTTTTGTGTGCACAGCTGGTTTCTCTCAGTAAAGCGCGCACACACTCGCACACACGCGCGCGCACAAAACTTCAGCCCCAACTTTGGTCGGCTTTAGGGTCCCATCCCTGAGGCAGCCTGTTTCAGCCCGCGGTCAGTACTCACGCTTGCTTTGACTGACAGCCACCGGGGACTGGGGCTGAACCATTTGCTGAGCCTGCCTCTTGCTCTTCGAGGCTCCCGTGGAGGGCACCGCTGTCCCCAGGCACTGGACGGCCAGCAGCAGCAGCCCGGGCCCCGGACCCCTAAGCATGTTGAGACGGTGGGGGAGAGACGCCCGCACCGGGAGGCAAGTTGCCACCAAGTTTGCTTCCCTTCGCAACCTGCGGGAAAAATCCCTTCTAATGCCTCCCGGGGGTTGTCGCCTCCAAGAAGGTGGGGGCCAGAGGGTGGGGAAGGGGACGGGTGGAGGGACAGAAGGGATGCAGAGGACCAGAGAAGTTGTGGCTGCAGGTCCCCTCTTCCCGCTCGCGCCTGGGGTTCCCTCTCCTCCCCCTGTGCAGCACAGCCGGCGCGGGCGTCCGAGCGCCGGGAGCCGGGGCTTATATGGGACGGTCCCCTCCCGCCCCTCTGGAGGCCCGGGGCGCGGGGGAGGAGAGACCCGCCGGGCTGTCCCCGCCCCGCCCCACCCCACCCGCCCGCCCGCCCGCCGGCCGCCGCAGCCGACCGCGCGCCGATTGGCCCGGGCTCCGGGTGACGTCACGGGGGACTGTGGGTTCGCAGCGAACAAAAGAGATGCTGATGGCCCGCCAGGACTGGGGCAAGACAACTTTTTTTCGGTTTCCTTTGCGGTCATCAAACTTTTTAGGGGATGGGGGAAGGGATGGGAAGCGGCTGGGAGGAAAGGGAGTGGCTGGACTTGTGTGAAGCGAAGGGGTTGCAAGACGCTCCCCCTTCCCTTTTCTTTTTTATTGGGGGTGGTGGTAGTGTTTGAGGACATTGCGTCACCTCTCTTCGGGGTGGAGGGGGGGAATCTCTGCTTATAGGAGTGTATTTTGTGAGGAAGAAAACCCATAAAATATCCACGACCTTGCAGCTGTTAAGAATCCAGACTTTTCAGTCCCAGGGCGGGGCTGCCTTTCCCCCCATCCCGCTCCCTTTCTTTGGACTAAAGGGTACTGACTCGGGACTCCCTTATTTTGTCTTCACAGCTCCCTGTTCGGACTTCTTCCCTTCTCAGCGCTGTGCCTGTCTGGCTCTGAGAAAGGGC
|
ACTATCTTAATAGAATCTATTGGTAACCCAGTGAATCATACTGGAAAGAGTGCCTTAGCTAAACTAGAGTTGAGAATCAGCCCGGTTCCCAAAGTTCCTTAGCAAACTCTATTGGGTTAATAATTTTGTATTATCCCTAGGAATAGTGACATCTGCTTCCTGGGTATAACCTACTGGTCACCAAGAAACCAGACTGTTTCTGTGAGGTGCAAGAGGTCTCTGCATTGCAAACATGAAGACCAGACAACACATGGCTGGTTCACTCTTCATGAACACCTTCCCAGTCACTGCAGAAAAGTCTCATGATTTGTCTAGCTTGAAGATATCCAGGTGATTTAAAATGGGCAACTCCCCTAAGCATGTCTTACTGAAATGGAACCCAAGAGGTCTCTTGGTTCTACTATGTACAGAAACACACACACTCATAAATGCACACACACTCATAAACGCACACACATCAAACACTGATTCCATCTGTGCTCATACCCGTCTTTAAGAAACACAGGAACCAGTTGGGTGACCACTTAAGAGTACCTGGTCACCAGGGGCAAACCTCAAAGTTCGGAATATCCAGTCATGGATAACAGAAAATGACAGTGATGGTAACAGAGAAATTCATATTTGATATTTTGGCATCATTTTACACAATCTCTTCCTTACTTGCGATGGTACAGCTTATTCTCCCTCGCCCAGCCCCGATGCAGGTACAGTCCCAGATCATGGAGTCTTTAGGACGCTCATAAGTGTCACCCACTCGGTAAGTGTTCCCAGTGTACTTGTCAAAGCAAGTCTCTTCAGCTGAGGGGAAAAGGAAAGTCCATGTGAGCCTCACTTAGGTACAAGCTTTTCTAGTTCACTAATCCCCTCTAAAGGAAAACCCACTTCTCTATTCCACAAGTAACATGGTACACCTCAAAGAATAAAATGAAGTGAGAGATACAGATTTTTATCCTAAGCTCTAATAAGGCCATGGTTTTTGACCTTGACATATTGTCAAATTTTCTGTAAATTATTCATATTGTAGAAAAATCTCAGGCTCTTAGGAAAAGGCCATATAAAGTACTAACTTATGACAGAGCTAGATTTGTGAAGGGTTTCACATTCCAATCTCTGACTCAGAAAGTCAAAGCAAGGTTCACATAAAAAGCAAACGATTGGCCGGGCACAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAATTCGAGACCACCCTGACCAATACGGTGAAACCCCGTCTCTACTAAAAATATGAAAATTAGCTGGGTGTGGTGGCATGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCTGGAGGCAGAGGTTGCAGTGAGCTGAGATAGTGCTACTGCACTCCAGCCTGGTGACAGAGCAAGACTCTGTCTCAAAAACAAAACAAAACAAAAACAAACAAACAATTCGAAGATCCCCACCTCCCACAAGGCCTTGACAGTTGTTAATCCTATGATTTCCATTTTCCCCTGATCAGTGCTTCTCTGACAGAGTTGCTATAATTTATGAGAAAAATATCATTGGTCCTAAAGGAATGAGAACTTTGAAGTGGCTAATGGTTTTGTGTTAACTGCCGCTGACAAATCATTTTACGATGTAAGTCCCCAAAGTGTTTTCTGGCTCATAAACTAACAGTTTAAGATTTGAGACTGCTTTCTAATAAATTAAAATTTTATAAGCAATTTTTTTTGTCGGAGGACACACAAAATCTTTCATTTTTCTCATCAAAAACTTTGGGAGAGTAAAGCAAAAAGAAGACTCTAGGAACTAATTTGGGAAAGATTCGTTTCTTTGTTTTAAAGGTAAAAGCATGTGAAAAGCAAATATAAGCAGTTTTTAAACTTAAGAGGAAATGACAGGTAATTCTATTAGAAAAATGGTGTATGTATTTTTACTTACTAATGCAAAGTTTAACAATTACCACTTCATGTATTAAAAGATACTAACTATGGGGCTTGTTGTCACTTACCTTCAGGTTTACTCTCCCAGTTAAAACCTCGGCTTCCTCCATAACAAGTACAAACCAACGCATTGCCTAGGTAGGTCCGCTCCCACTGTTGATTTATCTGATAGTGTTTTCCATTGTCATAACAACCGGCTGCAAATAATTGAAGGAAAACGTTACATTTGCATTTCTCCTTTTCCCAAAATTATGGAATTTTCTTCATGTGAATATTGACGTACATATTTTTTTCCTTTTAACTTTGCTAAAAGTTATATACAATGATGTCATTTCCATCTGGCCAGGGGTCTACATAAAAAAGTTGGAAACATTTTGGAAGGCAGACAATTGAAGTCACATTTTTAAAACATGCAAGGAACTTAAATATTCTTTTGGAGTAATAGTCAAAAAGGACAACTTTAAGCAGCTTTCTCAAAGCAAAAGGAGGGTGTGTCTTTGAAAAACGGAAAGAATTCCAACCTCTGTTCTTGGTGAAGTATCCTGAGCGGCCCTAAAGAGGTCTGAACCAATTACATCTCTTCCAAGTTAGTTAGAAACAAGACAGCTATTTCAATACCCCCTTTCCACCCCCATGTTGAAAATATTTGACCAATTATTTAACAGAAGGAAATAAGTAGCAGTAAGGACCACACTAATCCCAGACGGAAAATTTATAGACATGCATCATTTTTCTCTTTAAAGGCAAGTTTTGGTTAATTCCTAGAAGGACAATCTGAACGTGCAGAATTTATTAGAACACGGGAAAGTCGCAGAGTCCTCGTCCTCCAATGCACGGTCTTATCATCCCAGGCCCTCAGAACCAGCGTGCTCAAAACTCGGTCCTTTTGTGTGCACAGCTGGTTTCTCTCAGTAAAGCGCGCACACACTCGCACACACGCGCGCGCACAAAACTTCAGCCCCAACTTTGGTCGGCTTTAGGGTCCCATCCCTGAGGCAGCCTGTTTCAGCCCGCGGTCAGTACTCACGCTTGCTTTGACTGACAGCCACCGGGGACTGGGGCTGAACCATTTGCTGAGCCTGCCTCTTGCTCTTCGAGGCTCCCGTGGAGGGCACCGCTGTCCCCAGGCACTGGACGGCCAGCAGCAGCAGCCCGGGCCCCGGACCCCTAAGCATGTTGAGACGGTGGGGGAGAGACGCCCGCACCGGGAGGCAAGTTGCCACCAAGTTTGCTTCCCTTCGCAACCTGCGGGAAAAATCCCTTCTAATGCCTCCCGGGGGTTGTCGCCTCCAAGAAGGTGGGGGCCAGAGGGTGGGGAAGGGGACGGGTGGAGGGACAGAAGGGATGCAGAGGACCAGAGAAGTTGTGGCTGCAGGTCCCCTCTTCCCGCTCGCGCCTGGGGTTCCCTCTCCTCCCCCTGTGCAGCACAGCCGGCGCGGGCGTCCGAGCGCCGGGAGCCGGGGCTTATATGGGACGGTCCCCTCCCGCCCCTCTGGAGGCCCGGGGCGCGGGGGAGGAGAGACCCGCCGGGCTGTCCCCGCCCCGCCCCACCCCACCCGCCCGCCCGCCCGCCGGCCGCCGCAGCCGACCGCGCGCCGATTGGCCCGGGCTCCGGGTGACGTCACGGGGGACTGTGGGTTCGCAGCGAACAAAAGAGATGCTGATGGCCCGCCAGGACTGGGGCAAGACAACTTTTTTTCGGTTTCCTTTGCGGTCATCAAACTTTTTAGGGGATGGGGGAAGGGATGGGAAGCGGCTGGGAGGAAAGGGAGTGGCTGGACTTGTGTGAAGCGAAGGGGTTGCAAGACGCTCCCCCTTCCCTTTTCTTTTTTATTGGGGGTGGTGGTAGTGTTTGAGGACATTGCGTCACCTCTCTTCGGGGTGGAGGGGGGGAATCTCTGCTTATAGGAGTGTATTTTGTGAGGAAGAAAACCCATAAAATATCCACGACCTTGCAGCTGTTAAGAATCCAGACTTTTCAGTCCCAGGGCGGGGCTGCCTTTCCCCCCATCCCGCTCCCTTTCTTTGGACTAAAGGGTACTGACTCGGGACTCCCTTATTTTGTCTTCACAGCTCCCTGTTCGGACTTCTTCCCTTCTCAGCGCTGTGCCTGTCTGGCTCTGAGAAAGGGC
|
Task1_train_5429
|
With a mutation on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Schimke immuno-osseous dysplasia
|
AGGTACAATAGATAGTAACCCCATTTATAGATGAGAAAATGGAATCTCAGAGGTTAAGCTCCATGCTTCCTCTTAATGAGGAGCCCTGGCGGATCTTGATGTGGCATCTTCTGACTTCCCAACTCAGGGGTTTTGCACTCTGTAGAGGGGGGAGTGAGTGGGATGTTCACTGTCTGCCAGGTAGCTTTATGGATCCAGAGCCTGACAAGAAAACTGTATCACTCACCCTTGAGCTTTTTTTGCTGTAAATCCAGGAATCAGAGTGCTTTTGTGAAATGAATAAAAAGCCCATGAACAAACTCAGTGAAGAAGGAAGACCTGGTCCATCGTCCACAGCTTTTTCTAGCTTTATGCCACTGACGTCAGCCTGGGACTTCTTCCTGAGGCCTCCATGAGCCATTCATGCAGAAGAGGCAGCTCCTCCTACTGCCGGTCAGTCCAAGGCCCAGATGTGCTATTCTGACCGAAGAGATGGCAAAAAAAAAAAACACTAAAAAATGTGCACCTTGTTTTTTTTCTGTCCTGGTGATCTGAGTTCTTTTTTTTTTTAATTTTAATTTTTTATTTTATTTTTTAATGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGTGATCCTTCTGCCTTGGCCTCCCAAGTCTTGTGAATTCTGCCAGTGCCTGTAGAAAGTAATCTTCAGAACATATTTTGTGTGCGTTAGGTTCCCACAGCACCCTCAGAAATTCTAGGAAGAGTCAGCCAGACGGTGACCAGCCTGAGGTTAGAGAAAAGGCCAGCCCTCCCTGTATTGAACAGTGTCACCCCATGTGAGGCAGGTGAGCACCCAGATGCCTGGGTGGGTTTGGCTAGAGATGCTCAGATTGCCAGAGAGAGAAGGTAGATTTGTAGAAATATCGACATAAGTAGTCTCGTCATCATCAATAAATGTTTATGATTTGCCTTCAGTGTACCAGGCTCTGCTACATCGTTCATAAAATTCCTCTTAAAAAGAGTCGCATTCTTTCCCTGCAGAAACTTACCATCTAGTTAGAGATCACAGAAATGAAACCCAGACACTGTGAAGTGACTGTTGACAAAGGCAGGGAGATAGCGAGGCATGGTGGTTCAGGCCTGTAGTCTCAGCAACTTGGGAAGCTGTGGCAGGAGGATTGCTTGAGGCCAGTACTTCAAGACCAGTCTGAACAACATACTGAGACCCATCTCTTTGAAAAAAAAAAAGAAAGAAAGAAATTAGCCAAGTATGGTGGTGTGCACCTGTAGTCCCAGCAACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCTAGGAGTTTGAGGCTGCAGTAAGCTGTGATGGTGCCACTGTACTCCAGCCTGGGCAACAAAGTGAGACCAACACAACTCTCTATTTTTTTTTTTTTTTTTTTTCTGAGACCCGAGGTTTCTCTCTTGTTGCCCAGGCCGGAGTGCAATGGCGCGATCTCGTCTCACCACAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCGTGTTGGTCAGCCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGCACCCGTCTCCCCCAACTCTTAAAAAAACAAAAAAGGGAGTGTCCTGTTAGTGGCAAGTGAAGGGGCACAGGTAGGTGAGAGGAAGGTAGAGGTGATGGCTGTTGATGGGCATGAGACTGCTGCTGTCACAACCAACAGCTGCTGTGCTGGGTGGTCATTGTAGCTTTGTTCCCTCCTGTCATCCACAGGCCTTCCTTCGGTGGCTGCCATCTCTGAGCCCAGATTGCATCAACGTCGTGGTGACTGGGAAGGACCGCCTGACAGCTGGCCTGATCAACATTGTCAGCTTTGACCTTCTTAGCAAGTTGGAAAAACAGCTAAAAACCCCTTTTAAAGTTGTCATCATTGTAAGAAACTTGGCAAAGTCTTTAAGTACTTTATCTCTCTGGAAACTTTCTTTGTAAAAGCTCTGAGAACTTTCATGTCTGTAATCTCCTTGAGCCCCATTTAGTTTCTAGAAGAATAGAAATCACTGTCTTTATTTTGTGGGGAACTGGAAATTCATTCCCCTCAAATAGCCATTCTCAACTCTGGCTACGTACTAGAATCTCTTAGGGAGCTTTTTTTGAAATTGTGATTTAATTAGTCTTTGCTGGGGATTTCTAGCTCATCTCTTTCCCAGCGTGACTCATGGATGGAGGCCAGCATGTGGACCCCAGGCCACCTGGGGGCTCTGGGTACTACAACCTGGACGGCAAGGGGGTGTGCCTACATCTGGTGCCATCTTACTCAAACAATTGAGTTTTCTTCCAGCCAATGTGAAGATACACCCCCACCCCACAAAAGCACTTTTTACTCTAACTGTTTTTTGGAGGTTTTTCTGTGTTGTTTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCTTGCCTCAGCTCCCCAAGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTGCCCGGCCTCTAATTGTTTTTTAAAGAAGGTCTGACTGGACCTGCTTCCAGATTTGACAACATATCTTTCAATTGCAGGCTTTCCTACTTTTAACTCCTCACATACTTCCTAAGGAAAGTCTAGACAGACTTGGTACCCAGCCATCTCTGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCT
|
AGGTACAATAGATAGTAACCCCATTTATAGATGAGAAAATGGAATCTCAGAGGTTAAGCTCCATGCTTCCTCTTAATGAGGAGCCCTGGCGGATCTTGATGTGGCATCTTCTGACTTCCCAACTCAGGGGTTTTGCACTCTGTAGAGGGGGGAGTGAGTGGGATGTTCACTGTCTGCCAGGTAGCTTTATGGATCCAGAGCCTGACAAGAAAACTGTATCACTCACCCTTGAGCTTTTTTTGCTGTAAATCCAGGAATCAGAGTGCTTTTGTGAAATGAATAAAAAGCCCATGAACAAACTCAGTGAAGAAGGAAGACCTGGTCCATCGTCCACAGCTTTTTCTAGCTTTATGCCACTGACGTCAGCCTGGGACTTCTTCCTGAGGCCTCCATGAGCCATTCATGCAGAAGAGGCAGCTCCTCCTACTGCCGGTCAGTCCAAGGCCCAGATGTGCTATTCTGACCGAAGAGATGGCAAAAAAAAAAAACACTAAAAAATGTGCACCTTGTTTTTTTTCTGTCCTGGTGATCTGAGTTCTTTTTTTTTTTAATTTTAATTTTTTATTTTATTTTTTAATGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTTGAACTCCTGAGGTCAAGTGATCCTTCTGCCTTGGCCTCCCAAGTCTTGTGAATTCTGCCAGTGCCTGTAGAAAGTAATCTTCAGAACATATTTTGTGTGCGTTAGGTTCCCACAGCACCCTCAGAAATTCTAGGAAGAGTCAGCCAGACGGTGACCAGCCTGAGGTTAGAGAAAAGGCCAGCCCTCCCTGTATTGAACAGTGTCACCCCATGTGAGGCAGGTGAGCACCCAGATGCCTGGGTGGGTTTGGCTAGAGATGCTCAGATTGCCAGAGAGAGAAGGTAGATTTGTAGAAATATCGACATAAGTAGTCTCGTCATCATCAATAAATGTTTATGATTTGCCTTCAGTGTACCAGGCTCTGCTACATCGTTCATAAAATTCCTCTTAAAAAGAGTCGCATTCTTTCCCTGCAGAAACTTACCATCTAGTTAGAGATCACAGAAATGAAACCCAGACACTGTGAAGTGACTGTTGACAAAGGCAGGGAGATAGCGAGGCATGGTGGTTCAGGCCTGTAGTCTCAGCAACTTGGGAAGCTGTGGCAGGAGGATTGCTTGAGGCCAGTACTTCAAGACCAGTCTGAACAACATACTGAGACCCATCTCTTTGAAAAAAAAAAAGAAAGAAAGAAATTAGCCAAGTATGGTGGTGTGCACCTGTAGTCCCAGCAACTTGGGAGGCTGAGGCGGGAGGATCACTTGAGCCTAGGAGTTTGAGGCTGCAGTAAGCTGTGATGGTGCCACTGTACTCCAGCCTGGGCAACAAAGTGAGACCAACACAACTCTCTATTTTTTTTTTTTTTTTTTTTCTGAGACCCGAGGTTTCTCTCTTGTTGCCCAGGCCGGAGTGCAATGGCGCGATCTCGTCTCACCACAACCTCCACTTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGATGGGATTTCTCCGTGTTGGTCAGCCTGGTCTCAAACTCCCGATCTCAGGTGATCCGCCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCGACCGCACCCGTCTCCCCCAACTCTTAAAAAAACAAAAAAGGGAGTGTCCTGTTAGTGGCAAGTGAAGGGGCACAGGTAGGTGAGAGGAAGGTAGAGGTGATGGCTGTTGATGGGCATGAGACTGCTGCTGTCACAACCAACAGCTGCTGTGCTGGGTGGTCATTGTAGCTTTGTTCCCTCCTGTCATCCACAGGCCTTCCTTCGGTGGCTGCCATCTCTGAGCCCAGATTGCATCAACGTCGTGGTGACTGGGAAGGACCGCCTGACAGCTGGCCTGATCAACATTGTCAGCTTTGACCTTCTTAGCAAGTTGGAAAAACAGCTAAAAACCCCTTTTAAAGTTGTCATCAATGTAAGAAACTTGGCAAAGTCTTTAAGTACTTTATCTCTCTGGAAACTTTCTTTGTAAAAGCTCTGAGAACTTTCATGTCTGTAATCTCCTTGAGCCCCATTTAGTTTCTAGAAGAATAGAAATCACTGTCTTTATTTTGTGGGGAACTGGAAATTCATTCCCCTCAAATAGCCATTCTCAACTCTGGCTACGTACTAGAATCTCTTAGGGAGCTTTTTTTGAAATTGTGATTTAATTAGTCTTTGCTGGGGATTTCTAGCTCATCTCTTTCCCAGCGTGACTCATGGATGGAGGCCAGCATGTGGACCCCAGGCCACCTGGGGGCTCTGGGTACTACAACCTGGACGGCAAGGGGGTGTGCCTACATCTGGTGCCATCTTACTCAAACAATTGAGTTTTCTTCCAGCCAATGTGAAGATACACCCCCACCCCACAAAAGCACTTTTTACTCTAACTGTTTTTTGGAGGTTTTTCTGTGTTGTTTTTTTTGAGACAGAGTTTCACTCTTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCTTGCCTCAGCTCCCCAAGTAGCTGGGATTACAGGCACTTGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGCTAGTCTCGAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTTGCCCGGCCTCTAATTGTTTTTTAAAGAAGGTCTGACTGGACCTGCTTCCAGATTTGACAACATATCTTTCAATTGCAGGCTTTCCTACTTTTAACTCCTCACATACTTCCTAAGGAAAGTCTAGACAGACTTGGTACCCAGCCATCTCTGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCT
|
Task1_train_5430
|
A variant affecting Chromosome 2, within the gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Schimke immuno-osseous dysplasia
|
TGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCTCATTTCAGACTCACAGCAACCTAATACATAAGGAATTATGATACCCATTTTACAGACAGCAAAACTGGCATTACAGAGAGGTGGTTGCTCAGAGTCACACAGCAAGGAATTTGACTCTGTACCAAACTAGAAAATTTCCACTTAAATACTCATGTATTAGTTACTCATTTGGCTTTAGAAAATATGATCAACTCTATATTTGCTTATGCAACAAAAAGAAAAAAAGAATAAAGAAAAACAAACTATATATATATATATGTATGTATTTGCTTATGCACAGATACAGAGTGGTTAATCAGACTTCATGTTCTAAACATAGCAGTTCCTTGAGAATAGGAATCATATCGTCTTCTTTCCGTCTCTCAGTTTCCCCAGCACTTTGTTTACACTCGCCTCAGTGACAGTACTGATAATACAGCCTGATCGGTTGTCAGTGTGTCTGGCATCCTTCCTGCACCCTGAGCCCCTGAGGGCAGGGGCTGGACACCCCAGAGCTTTGCACCAGTGCAGGGCCCATTATGGGGCACTTGGTCTAGTGCTCCACAGGTGGGAGGTGCCTCTTACAAAGCAGCAAACCACCTTCTAGTGGTTTCTTTGAGCAGCCTCTGAGGTGGGCGGAGCAGGGATTCATGAATCCCACTTTATAGATGGAAAATTGTCCCCAGAGAGCTGAAGCAACTTGCTCAGAATGCAGTAGAGAAGCTGCCACCAGACCCCTGGGTCCTGACCTAGGCCCAGTGAGCCATCTCCTTGAATGAGAAAGTGCTAAGGGAGCATCCACCTTGCACTTGCCATGCCAGGGTCAAGCCTAAAGTGACCCATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCGCTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAATATTTTGCTCAGGCTTGCATGTCGTCCTAGTCCAGCAGGGGTTGCAAGTATAGACCTGTGGGCCATGGTCATGACTTGGCATTGACTTAGGGCATCTGTCTCTCTCCTTAGGGCTGTGGTACCAATTTCATCTTTCTTCCTAACATCCTGCTAAGGAACTAGTAGGCAGTACTAGTAGTCAGTAGTGCTGCCTTTGTCTCTCGAAGGTCAAGACTGTTGAGGCTGGGTGGGCATTGGACTCCAGAATCCTCCTCTGGCTTCCTACTTAGATAAGAGAGAGCCTCTAGCAGCTTGTCCACTAATTAGCTTAGAAAAAACTGCCTGTCTTCTAAGTCACTTGTAGTGGCAAAGCTGCCTAGATGCTGGAAATCAGGGAAGACGAGTTGTATTAATGAAAGTAATGGCAAAAAAACGCAATTACTTTTGCATCAACCTAATACAAACAGAACTGAGCAAGGGCTGGCGGGGTCAGCGAGATACACTGGCAAAGCTAAGATGGGCCTTAAAAGCTGATACTGTTTTCTGTGGCTACCCTGAGCCTCTTTGGTTGACAGAAGGGGCAGCCATCCCCCTTCCTCCCTGTGGTGGCCTAAACTCATTTCTGAGTGCTTTGGCGGGTGTGAGTTCTGGCTTCACAGCAAGCAGGCGTGGGTATGTGATGCAGATTCTAGTCTTTAAGCATGTTCTGATGTGCAATATAGGCTCTGTATTTCATCTGTCTCTCTCTTCTGTGTTTGGTTTCTTAGTCCCCCATCCCAACAGAGGGTAGTCCTCCAAATTTCCTTCCATTATGGGGGGGGGGGATGATTTTTTTCCTATTATTGTAAGAGGGAAGGAGAAGTACAATTAGAAAAGTAGCCTTTTCTCTTGTAACAAGTTAGAAGTTTCTCACAGATTACTTTGGAGGTATCCACTTTGGTTTGTGTAGACTGAGCAAACCAAAGTGTGTGTTTTTCTTGTGCTCAAAGCAACCTTTGTGTTGTACCAGCATTTTAAAACTATGGCTTTTATTGATTAAAAGAAGCTTTAACTTTTACCTAAACTAGGGAAAACAAATACGCTGAATGTTAATGAAGCTTAGCATTTGAACATTAATCTTAACATTTCCTCACAAAACACACGTAAGTGTCCACTCATTTCAAGTTTTCATGTGTTTAGGAATAACGGAATATGATACATCTTCCAAGGCAGGGTCATGTCATGTGCCAAACCAAAGAATAAAAGTCTTTTACTGCAAAAGCTTGGTTTTGCTGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCATGTGGGTCACTTGAGACCAGGAGTTTGAGACCAGTCTGAGCAACATGACGAAATCCCGTCTGTACTAAAAATACAAAAATGAGCCAGGCATGGTGGTGCACACCAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAGCTTGATTCTCTGCCAGTATTACCTATAAATATTTATATGTCAATAGCCATTGATGGACACATTTAAATAAAATGTTTTTCCTAGGTTGATGACCCTTCTTTTGGGAGGCCTTAATATGCTTTCCATAGGAAAACAATAGGGTTAGGTATTTTGGTTTCAGTATTTCAGCCATAACTAAATTAAATCTTTACTCCTGATTGTTTAGACAAAAGAAAATGCACAATAGATAGATTCTATCATTAAAGATACAATGTGAAAGCTTCTAGCAACCACTTGTTAATGTAGTCATTGCCTGGCTGGGCAAGCTGAGCCAGATAGTGGTTTCTGAAATGTGTGCCTCTCAGCCAGACCTTTGGAAGCAGCATATACCTCTTTAATATCTTGAGTGTGTTTCAAAGTGACATGTTTAAAAGAAATCTCTAAACTGCTAACTAATATG
|
TGTCAGTACTGAGTATATTTACATAACTCACACAAATATTGTGGGAGCTTAGAGAAAGGAAGGAGAAGATACCGTTACTGACCTCAGGGGATCTATTATTCTGTTTTGGACATGAGAACCACACTGTGTTCTTAGCATAAGCAAACTTGAGTGTTGATAGTTTTGCAAAGTGATATAGGTAATGAGTCTTTGGGGGAGTCATTTTTGGTTCGGCACAAATTCAAGTGTGGCTTTGAAAAGATGTCAGCATACATGTGAAATGAAAACATTCCAAGAAGTTTCCCAGGATGATGGGGATGGCTCTACAGTGTGTGGGAAGAATAATGCTTTCAATTCTTGAGTGTTGCCTTGTGTTAGGTACTGACATATAATCATCTATTTTCCCAGTGGCCCCTGAGTAGGCTTTATCTTTTATCCTTGTGAATTATCCATTTCACAGCTGATGAAACTGGCAGTGAGAGTGGGTACATAAATTTGCCCATAGGCACAAAGCTAGCAAGTTGGAGGTTATTGAATAAAGCTGGGTTGCGTCTGCCTTCAGAATTCATGTTCTTCTCTTTCTGGCCCATCACTTAACCTGCTGTATGATTTTTGGCAAGCCACTTACCACCATTGTTGGTTTGTTCTTCAGTTAAGTAAGAGCTCTGTCCTCTTTCTTTCAGAGAAATGTTGTAAGAAAGAATAGAGTGATGGCTCTGAAGTGTCACACTTTTCAGAAGAGGCTTCAGTTTAAACCATTCTTTGAGATTTGTTCCAGTATTGGCACATTTTTACCCATTGGTTGAAAGGGCCCATTCTCTTCCATATCCTCTGTACTTTCTGTGTTTTTTCTCCATAAATACATTTTACTTGACTGTAATGAGGTCTCATGATCAGAAAGGCATATGACCGTAACACTCCAGCTTTCTGGACAGGATACTTTCTTGATATTTTGAGGGTTATTTCACACTCCCCTCTGCTGTGCTTTTGTGGCCCTTTTTGCTCATGATAGCTGAAATGGAATAGGGGATTTCTTATAGATCATCTTTAAGGACAGCGTTGGGATCTCACTGGTATCCCAGCTATAGGAAGGCTGATACCATTGAGTGCTTACTGAGTAACAGGGCTGTGCTAAGGACTTCACATGTGTTAGCTCATTTCAGACTCACAGCAACCTAATACATAAGGAATTATGATACCCATTTTACAGACAGCAAAACTGGCATTACAGAGAGGTGGTTGCTCAGAGTCACACAGCAAGGAATTTGACTCTGTACCAAACTAGAAAATTTCCACTTAAATACTCATGTATTAGTTACTCATTTGGCTTTAGAAAATATGATCAACTCTATATTTGCTTATGCAACAAAAAGAAAAAAAGAATAAAGAAAAACAAACTATATATATATATATGTATGTATTTGCTTATGCACAGATACAGAGTGGTTAATCAGACTTCATGTTCTAAACATAGCAGTTCCTTGAGAATAGGAATCATATCGTCTTCTTTCCGTCTCTCAGTTTCCCCAGCACTTTGTTTACACTCGCCTCAGTGACAGTACTGATAATACAGCCTGATCGGTTGTCAGTGTGTCTGGCATCCTTCCTGCACCCTGAGCCCCTGAGGGCAGGGGCTGGACACCCCAGAGCTTTGCACCAGTGCAGGGCCCATTATGGGGCACTTGGTCTAGTGCTCCACAGGTGGGAGGTGCCTCTTACAAAGCAGCAAACCACCTTCTAGTGGTTTCTTTGAGCAGCCTCTGAGGTGGGCGGAGCAGGGATTCATGAATCCCACTTTATAGATGGAAAATTGTCCCCAGAGAGCTGAAGCAACTTGCTCAGAATGCAGTAGAGAAGCTGCCACCAGACCCCTGGGTCCTGACCTAGGCCCAGTGAGCCATCTCCTTGAATGAGAAAGTGCTAAGGGAGCATCCACCTTGCACTTGCCATGCCAGGGTCAAGCCTAAAGTGACCCATATTTCTGTCCACTCAGGATTGGATCTTGTACACTTATGTGGCTACTTCTTTTCAGGATGAATCTCACTTCCTCAAAAACAGTAGGACTGCCCACTGTCGAGCAGCTATGCCGGTCCTAAAGGTGAGTACTTCTGAGAACTGAGCCCACTGAGCATTGGCATCCCATAATATTTTGCTCAGGCTTGCATGTCGTCCTAGTCCAGCAGGGGTTGCAAGTATAGACCTGTGGGCCATGGTCATGACTTGGCATTGACTTAGGGCATCTGTCTCTCTCCTTAGGGCTGTGGTACCAATTTCATCTTTCTTCCTAACATCCTGCTAAGGAACTAGTAGGCAGTACTAGTAGTCAGTAGTGCTGCCTTTGTCTCTCGAAGGTCAAGACTGTTGAGGCTGGGTGGGCATTGGACTCCAGAATCCTCCTCTGGCTTCCTACTTAGATAAGAGAGAGCCTCTAGCAGCTTGTCCACTAATTAGCTTAGAAAAAACTGCCTGTCTTCTAAGTCACTTGTAGTGGCAAAGCTGCCTAGATGCTGGAAATCAGGGAAGACGAGTTGTATTAATGAAAGTAATGGCAAAAAAACGCAATTACTTTTGCATCAACCTAATACAAACAGAACTGAGCAAGGGCTGGCGGGGTCAGCGAGATACACTGGCAAAGCTAAGATGGGCCTTAAAAGCTGATACTGTTTTCTGTGGCTACCCTGAGCCTCTTTGGTTGACAGAAGGGGCAGCCATCCCCCTTCCTCCCTGTGGTGGCCTAAACTCATTTCTGAGTGCTTTGGCGGGTGTGAGTTCTGGCTTCACAGCAAGCAGGCGTGGGTATGTGATGCAGATTCTAGTCTTTAAGCATGTTCTGATGTGCAATATAGGCTCTGTATTTCATCTGTCTCTCTCTTCTGTGTTTGGTTTCTTAGTCCCCCATCCCAACAGAGGGTAGTCCTCCAAATTTCCTTCCATTATGGGGGGGGGGGATGATTTTTTTCCTATTATTGTAAGAGGGAAGGAGAAGTACAATTAGAAAAGTAGCCTTTTCTCTTGTAACAAGTTAGAAGTTTCTCACAGATTACTTTGGAGGTATCCACTTTGGTTTGTGTAGACTGAGCAAACCAAAGTGTGTGTTTTTCTTGTGCTCAAAGCAACCTTTGTGTTGTACCAGCATTTTAAAACTATGGCTTTTATTGATTAAAAGAAGCTTTAACTTTTACCTAAACTAGGGAAAACAAATACGCTGAATGTTAATGAAGCTTAGCATTTGAACATTAATCTTAACATTTCCTCACAAAACACACGTAAGTGTCCACTCATTTCAAGTTTTCATGTGTTTAGGAATAACGGAATATGATACATCTTCCAAGGCAGGGTCATGTCATGTGCCAAACCAAAGAATAAAAGTCTTTTACTGCAAAAGCTTGGTTTTGCTGGGGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCATGTGGGTCACTTGAGACCAGGAGTTTGAGACCAGTCTGAGCAACATGACGAAATCCCGTCTGTACTAAAAATACAAAAATGAGCCAGGCATGGTGGTGCACACCAAGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGATTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAGAAAAAAAAAAAAAAAGCTTGATTCTCTGCCAGTATTACCTATAAATATTTATATGTCAATAGCCATTGATGGACACATTTAAATAAAATGTTTTTCCTAGGTTGATGACCCTTCTTTTGGGAGGCCTTAATATGCTTTCCATAGGAAAACAATAGGGTTAGGTATTTTGGTTTCAGTATTTCAGCCATAACTAAATTAAATCTTTACTCCTGATTGTTTAGACAAAAGAAAATGCACAATAGATAGATTCTATCATTAAAGATACAATGTGAAAGCTTCTAGCAACCACTTGTTAATGTAGTCATTGCCTGGCTGGGCAAGCTGAGCCAGATAGTGGTTTCTGAAATGTGTGCCTCTCAGCCAGACCTTTGGAAGCAGCATATACCTCTTTAATATCTTGAGTGTGTTTCAAAGTGACATGTTTAAAAGAAATCTCTAAACTGCTAACTAATATG
|
Task1_train_5431
|
This alteration occurs within gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) located on Chromosome 2. Is it associated with a disease or is it a benign variant?
|
Pathogenic; Schimke immuno-osseous dysplasia
|
TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCGGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTT
|
TTACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCAGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTT
|
Task1_train_5432
|
A variant on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Schimke immuno-osseous dysplasia
|
ACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCGGCGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTTTT
|
ACTAAGTTTTAACCTACAAGGTTAAGAGCTAACAATATTAGAACATAGGAGCATGCTATCTGTCTTAGTCTGTTTTCTGTTGCTGTAACTAAATACCACAGACTAAGTAACTTACAAAGAATAGAGGTTTATTTAGCTCATGGTTCTGGAGACTGGGAAGTTCAAGAGCATGGCACTGGCATCTAGTGAGGGCCTTCTTGCTCTTCATAACATGGCAGAAGGCATCATATGGAGAAGAGGGCAAGAGCATATGTGTCAGCTCAGGTCTCTGGTCCTTTTCTTATAAAGCTACCAGTCCCAACATGGGGGACCCACCATGATGACCTTATCTACCTCCCAAAGGCCCCACCTTCAATCAACATAATGAATTTGGGGATTACTTTTCTAATGTGTGAAATTTGGGGGACACATTTAAGCCATAGCAATATCCAAATTAATTATGATATCCACTTGTTCTCAGCATGGTTTTTATTTAATACAATCCATAAGCCAGGGCTGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTCTTTTTGCCAGCTTCATGCATTAAGAAACCACTGAAAAGAGAACCTCATGCTGAGCTCATTTGCAAACCACTAACTATCTGAAGGCATTTGCTGAGAACTTCCAGTTGATTTCAGAGTATTTTTTAAAAAGAAGAAACAGCTTTACAACATTTTATTCCTCCACCTTTGACCATCTCTTCCTTCTCTCAATTTAGCAAAGGTTTATGAGACACCTATTCTGTCTCCACTATTATGCTAGGCTCTCTAGCCCTCTATAATGGGAAAACCTAGCCCCTACCCTCAGGTAGCTAGCTCATCAGCCAGGAGGGGAGATGAGCTCCTTAAAAGACAAAGTAGCAGGCACACTGGCTCCCTGATTTTCTACTAGACTGTAGAAATCAGTTCCATTTCCAGTAAGATTGTTGGTGAGGGATAGGGTTTTTAATGGTAATGGCTTCTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTTGCCCAGGTTGGAGTGCAGTGACACCATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTGTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGTGCATGCTACCACGCCGGCTAATTTTTGTATGTTTAGTAGAGATAGGGTTTTGTCATGCTGGCAAAACTCCTGACCTCAACTGGTCTCTAACTCCTGACCTCAAGTGATCCTCCTGCCTCCGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGTCTGGCCAGTAATGGCTTCTCTAGCTGTGTGATGGGGAATGAACATTTGAGATCACTGCCTCCCGTGAGCTCCTCAACGAGGGAGCCATGTTTATGAAGGACTGCCTAGGCCCTTAGCCAGACTGCCAGAAGCCTATGTGGTGGGCTCCTCCTGCCAACCCCAGCTGCCATCTACAACAACACTGCAGTTACTTTTATTATATTGTACTTGTTTGTGCTGGTGTAATCCATACTGCAGAACAACAGTTTTTAAAATCCCTGTAAGTCTCATCAAATAAAGATGTTACTGACATTATTTTATTACATTGTGCAACAGACTCTGTAGGATAAGCCATAGGGAAGATTTAGTATTTAGTGTACAGGAATAGTCTGACAAGCCAAGTTTTTTGTTTGTTTTTTAATAAAATGGACACCCAATTGCTTGACTTCTGGCATTTGCTGCTGGAAAAGAAAGCTCACTGCCAAATTGTAGAATGCCATGATAGGTGTTTTTTATTCATCTCATTCCTGACTTTTTTCTCTCTTTTCCTTTCCATTTCTCATTTGTTTTATTGGGGGTTTATTTGTCCCTGTAAGTCACTTGAAGTTTTCTGAGCTAAGCCAGGGGTGGTTGTGAGAAGAGGGACCTCCCGGGATCCCAAGTCCCTGTTGGACTGGGCCTGAAAGGAGCCTCATGGGGCTGTCGCTGTCTTGTTCTCTGCAGATGCCTTGGGGGTGGGACTACTCAGGTTCCTCCAACCTGGGAGAGCTGAAGCTCCTGCTGGAGGAAGCAGTCATGCTGCGGTGCCTCAAGTCCGACGTCCTTTCCCAGCTGCCTGCCAAGCAGCGCAAGATAGTGGTGATTGCCCCAGGACGGATCAATGCCAGGACCAGAGCTGCCCTGGATGCTGCAGCCAAGGAAATGACCACCAAGGACAAAACTGTGAGTCCAGGGCTGGAGACAGATTTGGAAGCAGACATGTCTAGGTGTTCCTTTCCATGAGAGGCCCTTGAAAATGACCTGGCATTCTCTCAGCTTTCCTTTCTGTAACCTTTTCCCTCTTCCCTAGGCAAGAACAGCAAGTCCATTTCATTCCTCAGCCTACCTAGTCAGTTTTGAAAAATCTCATATTAAGTTGTGGTTTTATACTTGTATAGATCGCTGTTGATGGATGGCCATAAAGATAAGCACAGGCAACAGCAGGGTGGTGATCAATATTCCGAATCCCTCAAAGAATGTGGAAATTATGTCTACTATATTTTGAGAATGCATCAGTCTAGTAACAGTTGTTAGAAAATTAGTCCTAACATGTTTGATACATATGTTAATCCTTTAACCATACTGTGTCATTTGTGTTAGTCAAAATAACAAGCCGACATTCTTATAACAAAATAGAGTTTTCAAATCCTCCTAACCTTTTAAATCCCTATTACAGGCATTTATGGTTGGCAGGAAGTTGGCATCCCCCTTTTTACAGAGAGGGAAACTGAGGCTCACAGAGATTGCAGTTTGCCCAGGGTCTCTTAGCTGCTCCACCACAGAGCTGAGGCTAGAACCAAGCCTCTTGCCCCTATATTTTAGGACTGTTTTCACTATGATGGTTTTATCTTTTCAAACACTTTTATTTCTGTCTTTAGTGTCATACTGTGCTAAGTGCTATAATCTACACCAGCTCTGTTTCTGTCCTCTTAGATAAAACCTTGTAATTCCCATTACTAAGAAAATAACAGTCATTGATATTTTTCAACATCATGAAGCATTATCTGGGCTTGATATTACCCTGTATAAAGATATTTAGATGTAGATCTCAGCCTTCTGGGAGGTTACAAAATAAATAAGAATGACAAGAGACAGAATGCATGTTTTTCATGTTATTTTACCATGTGATGAGCAAGATTCATTGATAACTTTTAAGAAATGACAGGATAGAGGATGCACTGGCAAATTTTCAAGCTGTATTGAATTTATGCTGTATTACATATAATAATCTGGATGGTCTGGAGTAAGTGAGCAGGCATCATCTCTTTATTGTGGAGTTTTCAAACTTAAACAACATCGATGTAGACATATAGACCAGTGTTCTCAGATTATATTTCAGTGGAATCATGAGTAAAACCAGGAAGCTTTGTCACTAAAATCAATCTTGGTGGTCTTTTGTTTATTTTTAGAGATAAAAATGCAATGAGTAGATTATTTTTTCTCAATTTGAAGTTTTTTCTTATAACTTTTTCTTAATAACTTTCGTCTACTGGTGAACTCTACCAGACAAGAAAACCAGTGAACTGGTATAGCAAATATAATATTAATGGAAAAATTCAGACATGCAATATTTTTAGATGCAAAGAGCTGAATATTTATAAAATGTTATTTTTTTTGCCAGCAAAGTTGTTCCTTGTGTGTGTGAGATGGAAGTAAGTCTGTTAGTGTTTCGTGAGATTCCCCAGAGAACACCCTCACCAATACCTGGTTCACCTCCTGAACCAGTTTGAGAACAGCCAAGGTAGACACCTGAAAAAGCAATTAGTGGGCATTTGAATTAAGGAGGAAAAGCACATTAACTTGTTGAAACACAACTGTGAATTGTGTAGTATGGCCAAAAAGAAAAAAAGAAAAGCAGTAGAAATTTTGTGCTTAGTGCAACAAGATCTGAAAGCATTTTGTAAACTTCTGCCAACTTGTATAGTTCTTCAAGTAAAGGGAGTGGCTCTTTTCAAAGATGATTTCAGATGTCACCTGAGAGTTTGATTTCTGAGCTTGTTGGTGATGCTATGAAATTAACTAGGAGGTACTATGGAATTTAGGAATGTTGGGTGTTTTATAACTTTAGGTAGCTATACAAATCCAGTATTTTT
|
Task1_train_5433
|
A variant on Chromosome 2 in gene SMARCAL1 (SNF2 related chromatin remodeling annealing helicase 1) has been observed. Is this a neutral mutation, or does it result in a disease? If so, which one?
|
Pathogenic; Schimke immuno-osseous dysplasia
|
TGTGGAGAAAAGGACATTCAGGATGTACTTTTTTTTTTTGAGATTTATCCATGTTGTTGTGTGTCTCGTTCCTTTTTAGTGTTCACTCCTTGGTTTTCCTTTTTTTTTTTTTTCTTTTTTGGTTATCTAGACCTGCAGATGTTCACTCCCTTTTAGTGCTAAATAACATCCCATTGTACATCATCTGTTCACTTGTTGATGGACATTTACCAACATATCCTTTTAGGAAAAATTTGAGACCCCTAAATCTGCAGAAATAGAAGGGTTAAATTATGCTGTTGCTGCATAATGACAAAGGGCCATTAAAAATGATATTTTAGAACACTTAACAATACAGTTTTACTTATAATGTGTTTTATTGGGGGAAAACAGGATATAAAACTTTTTATTTAAAAGATATATATACCATACACATCAAAAAAAGAGACAGGAAAAAGTAGATTGGTTAGATTACTAAATGTTTTTATTTTCCTTATCATGTTTATCACTAGCAAGAATAAATAAATGCCATTTAAAAGAAAATAACTAAACTAAACATGCAGTTACCATACAACACAACAATTGACTTTTGAGCATTTTTCTTTGGGAAATGAAAACTTAGGTTAACAGAAAAACTTGTACACACATGTTCATAGCAGCTTTATTTGTAGTAGCCCCAAACTGGAATCAACTCAGATGTCCTTCAACAGATGGATGGTGAAACTATGGTATATCCATACTGTGGGCTATTTCTCAACAATAAAAAGAAGAAAATTATTGATACAGGTAACAACTTGGATGAATCTCCAGAGAGTGCTGAATGCAAAGGCCCATTCCAAAAGGTTATATGCTGTGCAATTTATATAACATTTGTATAGCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCAGCACATCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTCCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTATAGTGCATTCTTGAAAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGGAACCACGCCTCTACTAAAAATACAGAAATTAGCCAGATGTGGTGGTGTGCGCCTGTAATCCCACCTAGTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCCAGGGGGCGGAGGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAAGAGTGAAACTTCATCTTAAAAAAGAAAAAGAAAAAAAATGTTTTTAGAAATTCAGGTCAGATTAGTGGCTATCAGGAGCTAAGGACCGTGGAAAGAGGAGGGAGGTAAAAGGATCCTTGCAATGTTGGAGTTGTTGAGTATCTTAACATTGGAGGTGAATATATGAAAACCTACACAGGTGATAAAATTGTGTAGAACACACACATACAGTAAAACAAGAAATCTGAAGATCAGTGGATTGTATAGAAGTCAGCATCCTGGCTGTGGTATTATACTATAGTTTTTATAGAATGTTACCACTGCAGGAAACTGGGCAAAGGCCTAAGAGGGATCTCTATTATTTCTTACAATGGCACCTGAGTATAAGCAGTCATCTCAATACCAATGTCAATTTGAAAAGAAAAGCTCTGAAGGCAGGGGCCTCTGCTGAGCTGGAACCTGGTTCTGTGCTGGAGCTGTGGCTGGGTGTGGTTTGCTGAGAAGCCCCCGGGGCTGTTGCCCACCTTGCTTCTGCCCCTTGTTCCTGCAGCACGTGCAGCACATCCGCATCGATGGCTCCACCTCATCAGCTGAGCGGGAGGACCTGTGCCAGCAGTTCCAACTGTCGGAGAGGCATGCTGTGGCCGTGCTGTCCATCACCGCTGCCAATATGGGCCTCACCTTCTCCTCGGCTGACCTGGTGGTGTTTGCTGAGCTGTTTTGGAACCCAGGGGTAAGAGACGCAGAAGACTCAGATACTCCCCAGGCATGCTCATGGCTGTGGGCAGGAAGCAGTGAGTGTCGGTCGGGGAAAGTGTGGTTTCCCTTTTATCCATTCATTATACTTCCCACAAGTCAGTTTTCACTTCCTTTAAGCACTTCTATGTTGATTGACTAGTCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCTTATCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCGATTGGCTGTTTTCTAGATTTTCACAGCAACCTGTAGGATTATCGACTCCATTTTATCAACGGGAAGGTTGAAGTCTTCCAGGGCTAGAAGGAATCTTGACTTCATGTCTCATAGGAGGAAGTTAGGGCACCGAGAGCTCAAGGGGTGAGGCAGGACTGCACTGCCATAACTGAAGAGGGCACTTGGTGGCACCAGGTTGCAGCCCAGGCCTCACGTTCCAGCCTGTGCCCCCTTTAGTAGCCATCATTGTGAGCTGCTTTAACAATGGACCTCACACAGAGTGACAGCAGTGAGGGTTTCCTGGACACCACCACTGGCCTCACCTGACCAACTGAGGACAGAGATAAGACATTTGTTTGAACTCTTAAATTTTTCTGGTAATCTCCAGAAAAGTTATATCCCCTTTAATATTTATATAATATTTAATAATATTGTGGTTTTTATTGGCTACACATAAGAGACTACATTAATAATGGGTAGACCTTGAGGGTGTAGCCATTTTATACAAGAAATAATGCTCATGATGTTAGGTGGTTTTTTTTTTCTTTTGCTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGACTGCAGGGACTTACTGGCTCACTGCAGCCTTGATTTCCCGAGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCAGGGGACTACAGGTGCACGCCTCCATGCCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCACCATGTTGCTCAAGCTGTTCTGGAACTCCTGGGCTCAAGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCAGCCCTTAAGTATTTATTATAAGGCTTACCACTATATTAAACCACCACCCTATGCCCAAATCATGGATAGCCTCTCCCTTGTGTGTGATGTTTTTATTTATTTAGAAGATAACTTTTTATTTCATACAGTGAAGAAATGGAAGTGTGCAGGCCTCCATCACCAGCCCCTCCCCATGCAGCCTGATGGCAGAGCCTGTGCCTCTTCATTTGCAGCACCTAGCTCAGTGCCCAGCACTGAACAGCCACCTGCAGATCTTCTGCTTCAGATTCCAGTTCCCCAGCCAGGGCTGTTTTGGGTTCTCTCTTTTGTTAAAGTGGCAGGTCATTTGTAGGTCTGAGATGGTAAAGTGCAGGTTATTTCTAGGTCTGAGACAGTGAAGTGCTTTGAGGAGGGAGGGTTGTGGTGGGACTGGAAATGGGGTGGAGAGGAACCATACCTGCTATGGTGGATGGAACTGCTTCAGGCCTTTACCTGCCTGTCTCAATTCCTGGACACACAGGTGCTGATCCAGGCTGAGGACCGCGTGCACCGCATTGGACAGACCAGCTCCGTGGGCATTCACTACCTCGTGGCAAAGGGCACAGCTGATGACTACCTTTGGTATGGCTTGGTTGGGTGGCCTGGCAGTTGGAGTCGAGCAAGGGTGGAAACTGATGATATGTTTACTTTGCTCCCAAAGTGCTTCTGCTTTTGCTAAGTAAGGTCTTTAAGGATCTATAGAAAATTGACTAGTGATGCCCTCCTGCTTTCATC
|
TGTGGAGAAAAGGACATTCAGGATGTACTTTTTTTTTTTGAGATTTATCCATGTTGTTGTGTGTCTCGTTCCTTTTTAGTGTTCACTCCTTGGTTTTCCTTTTTTTTTTTTTTCTTTTTTGGTTATCTAGACCTGCAGATGTTCACTCCCTTTTAGTGCTAAATAACATCCCATTGTACATCATCTGTTCACTTGTTGATGGACATTTACCAACATATCCTTTTAGGAAAAATTTGAGACCCCTAAATCTGCAGAAATAGAAGGGTTAAATTATGCTGTTGCTGCATAATGACAAAGGGCCATTAAAAATGATATTTTAGAACACTTAACAATACAGTTTTACTTATAATGTGTTTTATTGGGGGAAAACAGGATATAAAACTTTTTATTTAAAAGATATATATACCATACACATCAAAAAAAGAGACAGGAAAAAGTAGATTGGTTAGATTACTAAATGTTTTTATTTTCCTTATCATGTTTATCACTAGCAAGAATAAATAAATGCCATTTAAAAGAAAATAACTAAACTAAACATGCAGTTACCATACAACACAACAATTGACTTTTGAGCATTTTTCTTTGGGAAATGAAAACTTAGGTTAACAGAAAAACTTGTACACACATGTTCATAGCAGCTTTATTTGTAGTAGCCCCAAACTGGAATCAACTCAGATGTCCTTCAACAGATGGATGGTGAAACTATGGTATATCCATACTGTGGGCTATTTCTCAACAATAAAAAGAAGAAAATTATTGATACAGGTAACAACTTGGATGAATCTCCAGAGAGTGCTGAATGCAAAGGCCCATTCCAAAAGGTTATATGCTGTGCAATTTATATAACATTTGTATAGCATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCAGGAGTGCAGTGGTGCCATCTTGGCTCACTGCAACCTCTGCCTCCCGGATTCAAGTGATTCTCCTGCCTTGGCCTCCTGAGTAGCTGGGATTACAGGCGCACACCAGCACATCTGGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTCCGCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTACCTGCCTTGGCCTCCCAGAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTATAGTGCATTCTTGAAAAAAAAAAAAAAAATTGGCCAGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGGAACCACGCCTCTACTAAAAATACAGAAATTAGCCAGATGTGGTGGTGTGCGCCTGTAATCCCACCTAGTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCCAGGGGGCGGAGGTTGCCGTGAGCCAAGATCGTGCCACTGCACTCCAGCCTGAGTGACAAGAGTGAAACTTCATCTTAAAAAAGAAAAAGAAAAAAAATGTTTTTAGAAATTCAGGTCAGATTAGTGGCTATCAGGAGCTAAGGACCGTGGAAAGAGGAGGGAGGTAAAAGGATCCTTGCAATGTTGGAGTTGTTGAGTATCTTAACATTGGAGGTGAATATATGAAAACCTACACAGGTGATAAAATTGTGTAGAACACACACATACAGTAAAACAAGAAATCTGAAGATCAGTGGATTGTATAGAAGTCAGCATCCTGGCTGTGGTATTATACTATAGTTTTTATAGAATGTTACCACTGCAGGAAACTGGGCAAAGGCCTAAGAGGGATCTCTATTATTTCTTACAATGGCACCTGAGTATAAGCAGTCATCTCAATACCAATGTCAATTTGAAAAGAAAAGCTCTGAAGGCAGGGGCCTCTGCTGAGCTGGAACCTGGTTCTGTGCTGGAGCTGTGGCTGGGTGTGGTTTGCTGAGAAGCCCCCGGGGCTGTTGCCCACCTTGCTTCTGCCCCTTGTTCCTGCAGCACGTGCAGCACATCCGCATCGATGGCTCCACCTCATCAGCTGAGCAGGAGGACCTGTGCCAGCAGTTCCAACTGTCGGAGAGGCATGCTGTGGCCGTGCTGTCCATCACCGCTGCCAATATGGGCCTCACCTTCTCCTCGGCTGACCTGGTGGTGTTTGCTGAGCTGTTTTGGAACCCAGGGGTAAGAGACGCAGAAGACTCAGATACTCCCCAGGCATGCTCATGGCTGTGGGCAGGAAGCAGTGAGTGTCGGTCGGGGAAAGTGTGGTTTCCCTTTTATCCATTCATTATACTTCCCACAAGTCAGTTTTCACTTCCTTTAAGCACTTCTATGTTGATTGACTAGTCTCTTTTTTTCTTTTTTTGAGACAGAGTCTCTTATCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCCCCTGCCTCAGCCTCCCGAGTAGCTAGGATTACAGGTGTGAGCCACCACGCCAGGCGATTGGCTGTTTTCTAGATTTTCACAGCAACCTGTAGGATTATCGACTCCATTTTATCAACGGGAAGGTTGAAGTCTTCCAGGGCTAGAAGGAATCTTGACTTCATGTCTCATAGGAGGAAGTTAGGGCACCGAGAGCTCAAGGGGTGAGGCAGGACTGCACTGCCATAACTGAAGAGGGCACTTGGTGGCACCAGGTTGCAGCCCAGGCCTCACGTTCCAGCCTGTGCCCCCTTTAGTAGCCATCATTGTGAGCTGCTTTAACAATGGACCTCACACAGAGTGACAGCAGTGAGGGTTTCCTGGACACCACCACTGGCCTCACCTGACCAACTGAGGACAGAGATAAGACATTTGTTTGAACTCTTAAATTTTTCTGGTAATCTCCAGAAAAGTTATATCCCCTTTAATATTTATATAATATTTAATAATATTGTGGTTTTTATTGGCTACACATAAGAGACTACATTAATAATGGGTAGACCTTGAGGGTGTAGCCATTTTATACAAGAAATAATGCTCATGATGTTAGGTGGTTTTTTTTTTCTTTTGCTTTTTTGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGACTGCAGGGACTTACTGGCTCACTGCAGCCTTGATTTCCCGAGCTCAGGTGATCCTCCCACCTCAGCCTCCTGAGTAGCAGGGGACTACAGGTGCACGCCTCCATGCCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTCACCATGTTGCTCAAGCTGTTCTGGAACTCCTGGGCTCAAGCAATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACATCCAGCCCTTAAGTATTTATTATAAGGCTTACCACTATATTAAACCACCACCCTATGCCCAAATCATGGATAGCCTCTCCCTTGTGTGTGATGTTTTTATTTATTTAGAAGATAACTTTTTATTTCATACAGTGAAGAAATGGAAGTGTGCAGGCCTCCATCACCAGCCCCTCCCCATGCAGCCTGATGGCAGAGCCTGTGCCTCTTCATTTGCAGCACCTAGCTCAGTGCCCAGCACTGAACAGCCACCTGCAGATCTTCTGCTTCAGATTCCAGTTCCCCAGCCAGGGCTGTTTTGGGTTCTCTCTTTTGTTAAAGTGGCAGGTCATTTGTAGGTCTGAGATGGTAAAGTGCAGGTTATTTCTAGGTCTGAGACAGTGAAGTGCTTTGAGGAGGGAGGGTTGTGGTGGGACTGGAAATGGGGTGGAGAGGAACCATACCTGCTATGGTGGATGGAACTGCTTCAGGCCTTTACCTGCCTGTCTCAATTCCTGGACACACAGGTGCTGATCCAGGCTGAGGACCGCGTGCACCGCATTGGACAGACCAGCTCCGTGGGCATTCACTACCTCGTGGCAAAGGGCACAGCTGATGACTACCTTTGGTATGGCTTGGTTGGGTGGCCTGGCAGTTGGAGTCGAGCAAGGGTGGAAACTGATGATATGTTTACTTTGCTCCCAAAGTGCTTCTGCTTTTGCTAAGTAAGGTCTTTAAGGATCTATAGAAAATTGACTAGTGATGCCCTCCTGCTTTCATC
|
Task1_train_5434
|
A change on Chromosome 2 affects gene CATIP-AS2, CATIP (CATIP antisense RNA 2| ciliogenesis associated TTC17 interacting protein). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; Spermatogenic failure 54
|
TGGTTCCTCTTTGAAGTTTGTAGTAGATGGCGGTAGAAGAAATAGTGAAAGTCCTAAAGTCTTTGATCCTTCTTATAAGTGCATAGAAGAAAACGCTGATGTATGCTGCCGTCTCTCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCTGTGATCATGTGACTTGCTTCACCTTGTCAATCACTTAGAAGACTCGCCCTCCTTACCGTGCCCCCTTGTCTTGTGTGCAATAAATATCAGCGCGCCCAGCCGTTCTGGGCCACTACCAGTCTCCATGTCTTGATGGTAGTGGTCTCCCGGGCCCAGCTGTTTTCTCTTTGTCTCTTTGTCTTGTGTCTTTATTTATTACAATCTCTCGTCTCCACACACAGGGAGAACACCCGCTAAGCCCCGTAGGGCTGGACTCTACAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGCAGGAGGAGGTTGCAGCTGAGATCATGCCACTGCATTCTAGCCTGGGTGACAGAGTGAGACTCTTTCTCAAAAATAATTAAAACAAACAAATAAATAAATAAAAATAATAAAAATAAAAATACAAAAATTAGCTGGGCATGGTGGCACACTCCTGTAGTTCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGACTGGCAACAGAGTGAGACTCTCTAAAAAAAAAAAAAAAAGCGCCTCACCAGGAATAAGTCCAGTCAAAGAGTTTGCTATGTTGTCATTGTTGTTATCATTATTGTTACATGTATTAGAACTGTAACTTGCAGAGATATTCATGTAGCAGCTAATTGGATAGTGTGCATTTGAGACTCTGTCTGACTTTCGTTCATATCTTCTAAGGTCATTTTTTTTTTTTTGAGACAGATTACAGGCATGTGCCACCACTCCCTGGTAATTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGATCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTGGGACTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTCTTCTAAGGTCATTCTAATGACCCATTTCTTCACTCTGCCTCTTAAGAATATCAAATGTGGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGAGGATCACGAGCTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACCTCAAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGATGAGAATGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTGCGTCTCAAAAAAGAAAAAAATATATATCAAATGCTCCCTCTGCTGGACAACACCTCAAGCTTGTGCTGAGCCCCAAACCTGCAGTGTCAGTTCCCTCCAAGGTCTGGGTGTAGTAAAGTGGGTTGATGGCCCTTTAAGAGGCACTGTCCAGCTCTGGTTGCCATGGAGACAGCTGGACACAGACCGGGTAGAGGCAGGCCCACAGCATGTCCTCCAAGGTTTACTCCACAGGTGGGAAGAGGACTGCTGGGGCTGGAGGCGGGGATCCTCTTCTTTCTTCCCAATCCACCCTCGGGGTAGTCTTAGAGGATTCTGTTCTTGGGTGCTGGGGCCAGGACTGAGGTACCCTGCCTTGCCTCCCTGACCCCTGCCCTTCTCCCCAGGGTCTGCCATCTTAGCCTCTCATCCCTCTGTAGGCTCCAGAGCTAAGGACCACCAGCCCTCGGGTCCGGAGTGTCTGCCACTCCCAGAGGCCAATGCTGAAGCCATCGACTTCCTCAGCTCCCTCCGTGAGCTCAGACAGTGTCGGGGTTGGGGGTGCGGGAGGGGTGCAAGTCTGGAGAGGAGGGAAGAAAGTCCAGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCCTTGATTCTCCTGGGACTCAGAAAAGGCCTGAGGCCTGTTTGTTGACATTCTTCAAGGGAAGGCCCCCCGGGGACATGGGGACATGGGGCAGGAGTCTTCACCTGTCCGTGCCAGTGAGGAAGGCTGTGGGATGAGGAGGCAGGTGGGGACTGTGGGGACACTGGTGGTCATGGGGTCAGAGGATTGGATTGGGGCCCAGGAGCAGGGGCTTTATCTGTTCCCACGGGCCCCTCACCCCAGACAAGGAGGAGCTACAGATGCTGTTCTTCTCTGAGACGCTGGCCATGGTCTCAGACACCGGGGAGCCTCAGGGAGAGCTGACCATTGAGGTGCAGAGAGGGAAATACCAGGAAAAACTCGGCATGCTGACATACTGCCTCTTCGTGCATGCCTCTAGCCGAGGCTTCTTGGACAAAATGCTCTGCGGAAATTCCCTCCTGGGTAGCGTTCCTACTGCCTGATGCCCGTCACTCTCCCCTTCCTCCAACCCTCCCCTCCACCAATTCCTAGAATCTTTTTTCAGGACCAAGCCCTTGGCTTTGCCTTGGACCAGGACAAGGCACGGGGTGGGAGAGGGATGAGCGAGTTCCTCATGGACTCGGGATGAGGGCACATCTTACCCATCCTGTAGTTTTTCTGGGACCGTATTACACCTAGTCCTCCAGCTGCGCCACCACCTTCCCTTCCTTCAGCCTCTGACCCACATCTCCTGTGACGTCAATGCCTGTGTCCCTGCACCCCAGGCTATCTCTCAGAGAAGCTGGAGCTCATGGAACAGCACAGCCAAGACTTCATCAAGGTACTTCCCAGGGCCCCAGCCTTGACCCAATCCAGGGGAGAGAAGACAGATTTTGACTTAAAAAACAGCAGCAACAACAAACCAAAAAACCTATTACATACACAGTGAAGCTGAAGAATAGCAATCGTGTTATGATGCAATGTAAAGCTCAAAAGCAACGCACTTCAGAAAACTGATTTTAAAACACGGGGGTGGGCTGGGCACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCACCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGCGAAACCTCATCTGTACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCCGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAGAAAAAAATTAAAAAACAATGAGGGTGGGCCAGGCACAATGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAAGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGCCTGGGCAACATGGCAAAACCCACCAAAAATGTTTATAAATTTTGTACAAAAAATACAAAAAGTAGCTGGGTGTGGTAATGTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGTTCAGCGGAGCCCAGGAGGTCAAGACTGCAGTGAGCAATGTGCGTGCCACTGTACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAGAAGAAAAAAGATGTAGGTTGGGCACGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGGAGTTGAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAACACAAAATTAGCCGGGCGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGATGCCGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTACCTCTACTAAAAATACAAAAAGAAAATTATCCAGGCATGGTGGTGGGCACCTG
|
TGGTTCCTCTTTGAAGTTTGTAGTAGATGGCGGTAGAAGAAATAGTGAAAGTCCTAAAGTCTTTGATCCTTCTTATAAGTGCATAGAAGAAAACGCTGATGTATGCTGCCGTCTCTCTCTCTGCTTCGGCTACCTAAGAGGGAAGGGCCCCCTGTCCTGTGATCATGTGACTTGCTTCACCTTGTCAATCACTTAGAAGACTCGCCCTCCTTACCGTGCCCCCTTGTCTTGTGTGCAATAAATATCAGCGCGCCCAGCCGTTCTGGGCCACTACCAGTCTCCATGTCTTGATGGTAGTGGTCTCCCGGGCCCAGCTGTTTTCTCTTTGTCTCTTTGTCTTGTGTCTTTATTTATTACAATCTCTCGTCTCCACACACAGGGAGAACACCCGCTAAGCCCCGTAGGGCTGGACTCTACAGGTGGATCACTTGAGCTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGACTGAGGCAGGAGAATCACTTGAACCTGGCAGGAGGAGGTTGCAGCTGAGATCATGCCACTGCATTCTAGCCTGGGTGACAGAGTGAGACTCTTTCTCAAAAATAATTAAAACAAACAAATAAATAAATAAAAATAATAAAAATAAAAATACAAAAATTAGCTGGGCATGGTGGCACACTCCTGTAGTTCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATGGCGCCACTGCACTCCAGACTGGCAACAGAGTGAGACTCTCTAAAAAAAAAAAAAAAAGCGCCTCACCAGGAATAAGTCCAGTCAAAGAGTTTGCTATGTTGTCATTGTTGTTATCATTATTGTTACATGTATTAGAACTGTAACTTGCAGAGATATTCATGTAGCAGCTAATTGGATAGTGTGCATTTGAGACTCTGTCTGACTTTCGTTCATATCTTCTAAGGTCATTTTTTTTTTTTTGAGACAGATTACAGGCATGTGCCACCACTCCCTGGTAATTTTTGTATTTTTAGTAGAGATGGGTTTCACCATGTTGGCCAGGCTGGATCTCAAACTCCTGGCCTCAAGTGATCCACCTGCCTGGGACTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACACCTGGCCTCTTCTAAGGTCATTCTAATGACCCATTTCTTCACTCTGCCTCTTAAGAATATCAAATGTGGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGCAGGAGGATCACGAGCTCAGGAATTCAAGACCAGCCTGGCCAATATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCGCGGTGGTGTGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGACCTCAAGAAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGATGAGAATGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTGCGTCTCAAAAAAGAAAAAAATATATATCAAATGCTCCCTCTGCTGGACAACACCTCAAGCTTGTGCTGAGCCCCAAACCTGCAGTGTCAGTTCCCTCCAAGGTCTGGGTGTAGTAAAGTGGGTTGATGGCCCTTTAAGAGGCACTGTCCAGCTCTGGTTGCCATGGAGACAGCTGGACACAGACCGGGTAGAGGCAGGCCCACAGCATGTCCTCCAAGGTTTACTCCACAGGTGGGAAGAGGACTGCTGGGGCTGGAGGCGGGGATCCTCTTCTTTCTTCCCAATCCACCCTCGGGGTAGTCTTAGAGGATTCTGTTCTTGGGTGCTGGGGCCAGGACTGAGGTACCCTGCCTTGCCTCCCTGACCCCTGCCCTTCTCCCCAGGGTCTGCCATCTTAGCCTCTCATCCCTCTGTAGGCTCCAGAGCTAAGGACCACCAGCCCTCGGGTCCGGAGTGTCTGCCACTCCCAGAGGCCAATGCTGAAGCCATCGACATCCTCAGCTCCCTCCGTGAGCTCAGACAGTGTCGGGGTTGGGGGTGCGGGAGGGGTGCAAGTCTGGAGAGGAGGGAAGAAAGTCCAGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCCTTGATTCTCCTGGGACTCAGAAAAGGCCTGAGGCCTGTTTGTTGACATTCTTCAAGGGAAGGCCCCCCGGGGACATGGGGACATGGGGCAGGAGTCTTCACCTGTCCGTGCCAGTGAGGAAGGCTGTGGGATGAGGAGGCAGGTGGGGACTGTGGGGACACTGGTGGTCATGGGGTCAGAGGATTGGATTGGGGCCCAGGAGCAGGGGCTTTATCTGTTCCCACGGGCCCCTCACCCCAGACAAGGAGGAGCTACAGATGCTGTTCTTCTCTGAGACGCTGGCCATGGTCTCAGACACCGGGGAGCCTCAGGGAGAGCTGACCATTGAGGTGCAGAGAGGGAAATACCAGGAAAAACTCGGCATGCTGACATACTGCCTCTTCGTGCATGCCTCTAGCCGAGGCTTCTTGGACAAAATGCTCTGCGGAAATTCCCTCCTGGGTAGCGTTCCTACTGCCTGATGCCCGTCACTCTCCCCTTCCTCCAACCCTCCCCTCCACCAATTCCTAGAATCTTTTTTCAGGACCAAGCCCTTGGCTTTGCCTTGGACCAGGACAAGGCACGGGGTGGGAGAGGGATGAGCGAGTTCCTCATGGACTCGGGATGAGGGCACATCTTACCCATCCTGTAGTTTTTCTGGGACCGTATTACACCTAGTCCTCCAGCTGCGCCACCACCTTCCCTTCCTTCAGCCTCTGACCCACATCTCCTGTGACGTCAATGCCTGTGTCCCTGCACCCCAGGCTATCTCTCAGAGAAGCTGGAGCTCATGGAACAGCACAGCCAAGACTTCATCAAGGTACTTCCCAGGGCCCCAGCCTTGACCCAATCCAGGGGAGAGAAGACAGATTTTGACTTAAAAAACAGCAGCAACAACAAACCAAAAAACCTATTACATACACAGTGAAGCTGAAGAATAGCAATCGTGTTATGATGCAATGTAAAGCTCAAAAGCAACGCACTTCAGAAAACTGATTTTAAAACACGGGGGTGGGCTGGGCACAGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGCGGATCACCCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGCGAAACCTCATCTGTACAAAAATTAGCCAGGCATGGTGGTGCACGCCTGTAGTCCCAGCTACTCAGAAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGATTGCCGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCTCAAGAAAAAAATTAAAAAACAATGAGGGTGGGCCAGGCACAATGGCTCAAGCCTATAATCCCAGCACTTTGGGAGGCCAAAGTGGGAGGATCCCTTGAGCCCAGGAGTTTGAGCCTGGGCAACATGGCAAAACCCACCAAAAATGTTTATAAATTTTGTACAAAAAATACAAAAAGTAGCTGGGTGTGGTAATGTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGTTCAGCGGAGCCCAGGAGGTCAAGACTGCAGTGAGCAATGTGCGTGCCACTGTACTCCAGCCTGGGTGACAGAATGAGACCCTGTCTCAAAAAAAAAAAAAAAAGAAAAAAGAAGAAAAAAGATGTAGGTTGGGCACGGTGGCTCACGCCTGTAATCCCAGCAATTTGGGAGGCTGAGGCAGGCGGATCACCTGAGGTCGGGAGTTGAAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAACACAAAATTAGCCGGGCGCAGTGGCTCACACCTGTAATCCCAACACTTTGGGATGCCGAGGCAGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCTACCTCTACTAAAAATACAAAAAGAAAATTATCCAGGCATGGTGGTGGGCACCTG
|
Task1_train_5435
|
The gene CNOT9 (CCR4-NOT transcription complex subunit 9) on Chromosome 2 carries this variant. Does this mutation lead to a specific disease, or is it non-pathogenic?
|
Pathogenic; See cases
|
GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCCGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT
|
GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCTGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT
|
Task1_train_5436
|
This alteration in CNOT9 (CCR4-NOT transcription complex subunit 9) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; CNOT9-associated neurodevelopmental disorder
|
GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCCGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT
|
GCTCAATTTTCTGACTGATAGTCATGCCTGGGAAAATGAGTAGAAAATGAGAAGATTAAATCTGAGCAACTTTATAAACTCTTCGATTTTGTTTTGCTTCAGGTTGCCACATTCATCCTCCAGAAGATCTTGTTAGATGACACTGGTTTGGCTTATATATGTCAGACGTATGAGCGTTTCTCCCATGTTGCCATGATCTTGGTGAGTTCTTTCATCTATCCCCTTTACAACTACTTCTCATCACAAAGCTTAATCTCTTTATAACTGGCATTGAACAACTTCAGTCCTCTGACTAGAACTAACAATTTTGGAACCTTTTATGATTCTTGGACTATCTGATCTCTGATGTCAATTAGAATTTGTTTGTGTTTTGTGTGTTTTTTCCAACCCCTCCCCTTATTTTGGGGGAAACAGGGTAAGATGGTCCTGCAGCTATCCAAAGAGCCTTCTGCCCGTCTGCTGAAGCATGTAGTGAGATGTTACCTTCGACTTTCAGATAACCCCAGGTAAACATTTATAGGATGTATAGGACTTTAGGGAAATACTCTGCTGAACAGTTTCCTAATCTCATGGCATAGCTCCTGTGTCTTTAGGACAGGGAAGTGGGGATATAACTGCATTTAGTTTGTCTGAGACAGAACTTAGATTCTTTTAAAAATCTGAAATGCTGAATTTTAGTAGCCATCAGTTTCATCTTCTCACTGTAACTCTCCATCCTACTGTGAAATTCCAGAGAGTCTAGGCGATTCCAAAGGAAACCTTATGATGCATTACTCCTGTTGTTTGAATTTTCTGTTGCTACTCTACGTGGTCAGAGAGAGAAGTATATTTTCAAAGATCTCTTAAAAAGGAACACAGCCCAGAGGGCTCTTGAATTCTATTTCCAATTCTGTCCTTGATTCCTATAAGTTTCTTGAGCTAATTATTTTATCTGCTTATGTTCATAATCTTTCTGCCAGAAATCATACACTGTAGATATAATGCATTTTAGAAATGTTTGACCTTTTGCTTTGTAAATCCATAATTCATGCTGAAAGCAACCTGCTCATATTCTGCTAAACCACGTAATGGAGCAATTTCTGTGTTCCTGGGAAGAGAGCTAGCTTGATTTGATTTAATGTGAACTCAGTCTCCTGCCACTGAGTTTATTCAAGCCCTACCTGTTTGTTGACCATTTTATCCTGTTCTTCAGTGGTTCTTGTTTCACTAAAGTTTAAAAATGTGTTTATTTAAAATTCTACTTGTACAAAGAAAACTAGTCTGAGTGCAAAAACTATAACTTTGTTTAAAATAGCTCTACACATAGTTAACATTTACCTTTTTTAGGTTTTCAGATTTGACTTTCTGCTGGTCATCTTTTCAAAGAAAATGAAACGTTTAAAAGTTCATCTGATAATACTGCTACCATAGTTTTGTTTTCACTGCTCATCTCTTATTAAGGTTTTTAACCATAAAACTGAAGCAATTTCTGTAAAGACACAAATTGATAACTTAGTATAGAATTAAAATTCATTAAGTTATCATAAGTTTGATGATATCCTTGTTAATGTACTGATTTTTGAATTATTTTATTTGCCATAATCCATATATTTCTAACATGAGTATTTTGACAGTATTTAATAAATCAGAAAGCTGTTTGAATGGAAGTAAACTATTGAACCTTTTAATTTTGCTTTTTCATGAAATTCTACATTGGGGCATCATTCAGAAAATATTTGTGGATACAGATTTTGGAGATCTCTAAGCCTATGCCTAATATAGCTTTAGAGAATTTTAATGGCTTCTTAAGGAGCCATAGATTCACAGTATTCTAAATATTTATGTCTAAGAAGGGGGCTCTTCCCTGTCCACAAAATGTGGGTTTATTTGTTGGTCTCCCTGGTTGGTTTGTTTGTTTCTGATGTAGGGCACGTGAAGCACTCAGACAGTGCCTCCCTGACCAGCTGAAAGACACAACCTTCGCCCAGGTGCTAAAAGATGACACCACCACGAAACGCTGGCTTGCACAACTGGTGAAGAACCTGCAAGAGGGCCAGGTCACCGATCCCTGGGGTATCCCCCTGCCCCCTCAGTGATCCTTCCCTGTTCCCTCCCACTACTCCCCCAAGTTGGGGAAAGGAGGGGGAACCTACGAGAAAAACAGCTCAGGTTTTATCACCGACTGGGAATAGACAACCTCAATGCTGAACCGCACTGGAGAAAAGGGGCAAGGTACCCCTGCTGAGGTGTATGGGCTGCCATCTCAGGCTGTCTTGAGGACCTGGGCTCCCTCTGCTACTCCCAGGAAATGGGCTCCTGACACAGCAGTCTGCCACCACAGCCCCAGGAGGGTGTCAACACCAGCAAATGCTGTATTTGCAGCATGTCCAAGATGACCCTTCTCCCCTACCTCTACCTAGCCACTGGCAGGGAGGGGAGACAGTGGTGATAGCAGCAGCACTCTAGGCATGGTGAACGCCTGGGACCAAGCCATGTGGCGTTTTTTATTTTGCCTTTCTGGAAGACTCAAGATATGTCTCTTCATTCTCTCTCAGTATTTGTTTACTTTGGTTTTTTTGTTTTTAATCTCAGAGAGAGGTGTGTTTAGTGGGCACAAGCTGTAATATTCAGCAAAACTTTGTCGACTGGCACTGTTTACAAGTCTGTTAGCTGCATAAGCTCAATAAAAAGTTGGTCTGGGCATTACATCCCCTCTGGCAGGCCAATAGCTGCATCAAGCTGTTGGGAGAAATGGGAGGGCAGGGGAAAGATGTAAAGCCAAAGTACAGCAGGAACCCACCACCTGTTTCCCTTCCTTCTCCCATTCTACTCCCAGTCCGGAATGCCACGAGGACCTTAACCTTGTTTCTGGCTTTAGCTGCTAGTTTTCCCAAATCTCAGTGCTTTCCCTTTTTGAACTTCCCTTCTATTAAACTTAAAACAGATGTCTTAATTAATCAGGCTGTCTTGGAAGGGTATTGTATTGGGAGACAAGGGGCGGTGGTGGACCTCACCTTCAATCCAAGTTTTCAAAGATATTTTCTCAATAACTCTAAAAGGGAGGTGCTTGGGATTAAGGTGACAGTCCACTTGATCCTTTTCTTTGTTTTAGTGTGAATTTCAGCAGCTCCATCTGTCTTCATGATTGTACTTGAGCAGTATTAGCTGTATGAGTTAATTTTATTCAGATTGAAGATGGAGGGCTGGGTTCTGCTCACTCAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGACCATTCTCTTTTAGTCTATGGGAATTACAGGGTTGCCGCTAAAATATTCACTTGTTCATATCGTGTCAGAGATTTCCTCTTCTCTGGAGCTTAGGTGGCTCTTCACAATCCATAGGCTTGAATCTGCAACCTAGTGTAAACTGCCTTGCTTTCCCCGGTTCTTTCCCCTGCTAGCACCTGCTTTCTCATCCCTATCTCCAGTCAAAGATGGGATTGCTTAATCCAACTCTGGAGAGGGACCAAGTCTTTTCTGCCCACATCTCACACAATTGAGGTGTCTGAACAAGCTTGGGGAGGGTCTATAAGGGGTAGGCTCAAAAAAAAAAAAACCCATTTGCAGAGGCAGTTTTGCCAACACAAGGGCTCTTTCAAGCCGACTTTCACAAAGAGAGCCGGACTTGTTAGTTGGCTTCTGTCTCTTTAGAGCCAAGAAAATAGTAATTAAGTGGCCTAGATATAGGAAGGGCAGAATAAGCACTTACTCCCCCTGCCTTCCAAGATGAAGAGGAGAAGCAGGCCAACCCTCAATAATTGCAAGCCTGAAGAGAAGTGATCTTAGAGAAAGCAGAGAACAGAATGGACTGGATAGACATCTTGACTCTATTCAGCCCGTAGTCTGTGATCTGGAGAGTCCAGTTAAGGTAACCCAGATTTTTGACAACCGCCTTCCTGCTGAGCCAAAGTTTTCTCATTACCCCTCCACTGGGGAAGCAGCTGAGGCCCAGGGCCTTGCTCCCTGGGAAATTCTCTTCTCTCCATCTTTCGGTGCATTGGCCATGTTACTGTGCCAAAGTGTCTTAATTCTTGTCCCATCTATTCTCAGCTGGCCTTGGAACCCACATAGGAGTTGGTGGGGGAGGGAT
|
Task1_train_5437
|
Here is a genetic alteration in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
TAGCGACCCAGGTTCCCACCTGCCTCTGGCTCTGACTCACCGCGTGGTCTTGGACAGACACAGTCGCTTCGCTTCTCTGGGCCTCAGCTTTCCTATCTGTAAAATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAA
|
TAGCGACCCAGGTTCCCACCTGCCTCTGGCTCTGACTCACCGCGTGGTCTTGGACAGACACAGTCGCTTCGCTTCTCTGGGCCTCAGCTTTCCTATCTGTAAAATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGGTGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAA
|
Task1_train_5438
|
The gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Bjornstad syndrome with mild mitochondrial complex III deficiency
|
AATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTG
|
AATGGAGGTGATGACAGTGTCCACATCGTCGGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGCGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTG
|
Task1_train_5439
|
Given a variant located on Chromosome 2 and affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Pili torti-deafness syndrome
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
Task1_train_5440
|
This sequence variant lies in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it clinically significant, and what condition might it cause if any?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
Task1_train_5441
|
A change on Chromosome 2 affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Identify whether the variant is neutral or disease-linked. Mention the disease if applicable.
|
Pathogenic; GRACILE syndrome
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
Task1_train_5442
|
Here is a genetic alteration in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Pili torti-deafness syndrome
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
GGGCAGGAGCTGGATCATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGTGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTG
|
Task1_train_5443
|
With a mutation on Chromosome 2 in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
CATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTAC
|
CATAAGAGCCAGCGAACTGGAAAGGCGGTTTGTAACCTGGAAGGCTTGGGATGGAGCATCGTCATGATTTTGTCCTGAGAGCAGCAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCGCACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTAC
|
Task1_train_5444
|
This gene mutation involves BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Pili torti-deafness syndrome
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
Task1_train_5445
|
Consider a variant on Chromosome 2 in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Determine its clinical classification and disease relevance.
|
Pathogenic; GRACILE syndrome
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
Task1_train_5446
|
A mutation in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
Task1_train_5447
|
Here’s a variant in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Pili torti-deafness syndrome
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
Task1_train_5448
|
A variant was discovered in gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), Chromosome 2. Please indicate if this mutation results in a known disease or if it's non-harmful.
|
Pathogenic; GRACILE syndrome
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
CAGGTACCCGGGCGGGGTCCAGAACCGTGACGCGACTGCAGCGCCGGGGCCCAGCTCGTCTGGGTGCTCCCTTCAGTACCTCCTTCCGAGAGTTCCCAGCGCCCAGGCCCACCCTGATCCCGGGGCTCGAAAAACTTTGCCTCCAGCTCGCTCCACCCGCATTCCCTTCCCAGTTCCGCCCCGCAGCCGCTCACTCACCTCCAGACCCAGAGCCGGCGGGAGCCGCATCTCTATGGTCGGCCGCGGCTGGAACGGCCCCCGGGGCCCGCTTTGTGCGACCGCCTCCGGCTCAGCCGCCTCTAGGATATTGGGGATGTGGAAGCCACTCTCTCTTCCTCTTGCCGGCTGCCGGGGTACTCTATGTTTTGTCTCTGTGGTTTTTCCCGCCCTCCACCCCCACTCCAGCCCTGAAGCCGGAGAAGCACCATCGAGAGCTCTGGGGTAGAGTGGCGTGGGCTTCTCTGTGGGTGTGGCGGGAAGTAGATGAAAGGACCCGGGGCGGGGCCGAACGCAGCTTCCCCAAGGTGCAGGCGCGGTGAAACCATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCGGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTT
|
Task1_train_5449
|
This variant affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
ATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCT
|
ATCGAGACGGAGGGCCAGAGAGTCACGGCGGTGAGAGGGCTGAGTGACGGGTTACCCCAAACCATGTGGCTGGAGGCGCGAGCTGGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCCAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCT
|
Task1_train_5450
|
A variant found in Chromosome 2 affects BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Leigh syndrome
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
Task1_train_5451
|
A variant was discovered on Chromosome 2, affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). What is its functional impact — neutral or pathogenic? State the disease if pathogenic.
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
Task1_train_5452
|
Given a variant located on Chromosome 2 and affecting BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Pili torti-deafness syndrome
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
Task1_train_5453
|
A variant found in Chromosome 2 affects BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
Task1_train_5454
|
This variant affects gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
|
Pathogenic; GRACILE syndrome
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
Task1_train_5455
|
This variant lies on Chromosome 2 and affects the gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Pili torti-deafness syndrome
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
GGGGTGTGGGCGAGGTTCAGGAGGGGGTTCCTGGGTGTCGCGGAGGGGCCGGGGACGGGAGAGCTTTGTCTGTGGCCTTCCATGCATAGGTGTTTTGGAATTCTGGATCCCAGTTCTGAGGCTCAGCCGAGGTCACTGCTGTCAGCTCACCTCCCTGCATGCCAGGCGCAGGGCAAAGTGGCCGGGGTTCGGGGTTGGAGGAGAGGTGTACTAGAAACAACTTTGCTCTTGTCCCTCAGGATCTTATTGTCTACGATGTGACGATCCGTGGAGAAAGTAGCAGATGGGCAGATTTTCATTTGGGGAGAATGAGGGAGAAAAGAACGGGCATTCCGAGCCAAGAGCACTGCATGAGCAAGGAGTTGGGAGGTTGCTTACTTGTTGAACATATTTGTTGCGTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACACCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGA
|
Task1_train_5456
|
Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone), found on Chromosome 2, is impacted by this variant. What is the biological outcome — benign or pathogenic?
|
Pathogenic; Pili torti-deafness syndrome
|
GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT
|
GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCCGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT
|
Task1_train_5457
|
An alteration has been detected in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT
|
GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCCGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT
|
Task1_train_5458
|
Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; GRACILE syndrome
|
GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT
|
GTATTTGCATATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCCGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCT
|
Task1_train_5459
|
This mutation occurs in BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
TATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGG
|
TATTTGCTAAACAGGTAGTGTTAGGAGCTAATCCATGAAAGGTAGGTGGGCGCCGTATTGTAGAGAGCCTTGAGTACCAGGCTGAGTTTATACCCAATTCAGGGGTCTGCTGGGAGCCAGCCATTGAAGGTGCTGGAGCAGAGAGAGATATGGTATTGGAGCTGATCCCTATGATGAAAGATCTGGACCCTTGTGTAGATGTTCCGTGAAGCAGGAGGTGAAGACCTATTAAAATGCCATTTCAAGAACTACGATTTTAAAGACAGTTTAGGTGGGAGGTAATAAAGGTCTAAACAAGACGTTAAATATTGGGGACGTAAGGGGGAGGATATTTGAAGGACATTACTCATAACAAGACATAGGGTTACTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCGGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGG
|
Task1_train_5460
|
This gene mutation involves BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2. Is it associated with any clinical condition, or is it benign?
|
Pathogenic; Mitochondrial complex III deficiency nuclear type 1
|
CTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTG
|
CTGACAAGTCAACGGACGCTTCTCCCTTGCTGACTGCAGCCAATGGACCCCTTTTTATCATAGCTGGTCCCAGGGACCACAAAAATCCTGTCCATCCATTACCCTGATGTGAAGCCTGTTTATATAGCTCTTTTTGGTTTAAGGCATCTCCAGACATGGTCCTCTGGTAGGAAACAGGTATGAGTAGACTAATGAAGGACAAAATGGGATGAGGGACCTGGAGCCTCCACCCTTGCATTCCAATACCACCCTTACCCCACAAAAGGAGGGTATTGACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAACCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTG
|
Task1_train_5461
|
Gene BCS1L (BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Pili torti-deafness syndrome
|
GACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGTACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTGGGGCCATGGCTGATTGGGGTTTGTAGAAAGGTTGGTGGCATTACAGGACAACTGGGAAGCCCTTCCCTCACCTGCTGAAGGCTGATGAAGTATCGGTTTCGCTCAGCCTCAAGGTCAATGATTCCCCCCCGCTCCTGCTGCCTCTGGTAGAGCCGCTTGCGTTCTTCTTGCTGGCGCAAGCTCTCTGCACTGGGCTGGTACAGCTCCTGGAAGGAAGAATGGCAGAGAGGAAATAATGAACAGCAGAAGGCTGACTCAAACCTCTACTCCTCCC
|
GACCCACACAGTAATGCTGACCTGTGGCCAGGGCTGGGGAGGTCCAATTTCTAATCTGTGCTTTGTCCCATCTCCACTGTTCCCCACCCCTAGGTTTTCGTAACACCCCAGGGCCTGTAAGGTTTGGTGTTTCCCTTTCAAGATGCCACTTTCAGACTTTATTCTGGCTCTGAAGGACAATCCCTACTTTGGGGCTGGATTTGGGCTGGTGGGTGTGGGCACAGCCCTGGCCCTGGCCCGGAAGGGTGTCCAACTGGGCCTGGTGGCATTCCGGCGCCATTACATGATCACACTGGAAGTCCCTGCTCGAGACAGGAGCTATGCCTGGTTGCTTAGCTGGCTCACCCGCCACAGTACCCGTACTCAGCACCTCAGTGTCGAGACTTCGTACCTTCAGCATGAGAGTGGCCGCATTTCCACTAAGTTTGAATTTGTCCCCAGCCCTGGAAACCATTTTATCTGGTAAGGTGGGGAGCTAGGGAGGGCTGTGAGAGTAGAAAAGAATGATGGGAGCTGGGTTTGACCCATTCACTCACTCAGTTTTGATCGTTCTTATTCAGGTATCGGGGGAAATGGATTCGGGTAGAACGAAGTCGAGAGATGCAGATGATAGACTTGCAGACGGGGACTCCTTGGGAATCTGTCACCTTCACGGCCCTGGGCACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGTGGGATGGCACAGGCAGGCTTTCTAGGGACATTGCAGGGATGGGGACATTTGACATCAGATGAGCAGTTTGGAGAAGTGGAATAAGCAGGCCGGGGTGAGCCCATGGGAACAGGGGGCCAGAAGGAAGCTGTTTGGCACAGCTCCACCTAATTGAAGAATCAGCCATGGTGAAGAGAATTATTGGCTTTATCTCATCTTCTCCTTCCCAGCTCGAGAGCTAGCCTTGCAGCAGGAGGAAGGGAAGACCGTGATGTACACAGCTGTGGGCTCTGAATGGCGTCCCTTTGGCTATCCACGCCGCCGGCGACCACTGAATTCTGTGGTTCTACAACAGGGTCTGGCTGACCGAATTGTCAGAGACGTCCAGGAATTCATCGATAACCCCAAGTGGTACACTGACAGAGGTGAGAAGCAGCTGGGGTCTTGGCTGTGCTGTTTTTGACATTTTTAGAAGGGACAGGTTGGTCTCCAGCCAGATGGGGTGATATAAAGCTCTAGTCCAATTCCCAGAGATTAAGAGGAATGAAAAGTTGTGTATGAGAATGATTTATTTCCGTACCAAGGTTATCAGGCTTCCAGGGGGCAGGGCTGGGAATGAACGTAGATATCCGGGGCAAAAGACATGATCATCCTGGCTCTATCCCTAGGCATTCCTTACAGACGTGGCTACCTGCTTTATGGGCCCCCTGGTTGCGGAAAGAGCAGTTTTATGTGAGTATTCAAAATTTCTCTCAACTTGGCAAAACGAAGCCTTTGTGGAAACACTAGGCTGATAGGGTTGGAAGGGGAAATGAATCTGGGGATCGGGGACCAGGATAAACATGAAACGTGTGGAACATCAGGGTGTGAGGTAGAAGTCAGGCCTCTGAGACACATGTCCCCAGGCGGTGAGGAGAGTAGCTGGGCCTGAGGAAGCATTTCCAGGTTGCCTGCTACCTCCTGCCATCCCATGCTCCATAGCACAGCCCTGGCTGGGGAACTGGAGCACAGCATCTGCCTGCTGAGCCTCACGGACTCCAGCCTCTCTGATGACCGACTCAACCACCTGCTGAGCGTGGCCCCGCAGCAGAGCCTGGTACTCCTGGAGGATGTGGATGCTGCTTTTCTCAGTCGAGACTTGGCTGTGGAGAGTAAGTGAGGGGTTCTGGAGGAAGTGGAGTGGGTAACTGTGGAACAGGGGAAGAAAGCAGAAATCCAGAGGGCTGGTGGAAGATGCCTGGGTTAGTGACAAGAGCCCACAAGACACATGGATAAGTAGGGGAACATAGTGGGGCATGCTAATTTTATGCTGGGCTATGACTACTCATGCTTCCTTATCTTTGCCTTCCTCCAGACCCAGTAAAGAACCAAGGCCTAGGTCGCCTCACCTTCAGTGGACTGCTCAATGCCTTGGATGGTGTGGCTTCCACCGAGGCCCGCATCGTGTTCATGACCACCAACCACGTTGACAGGTAGGAAGGAGCCAGGCATCCTGAGACTTAGGCAAGAGCCCACCTCCTCCCCTAGTGCCTTGGGAGGAACAGGAGGTCGAGGGGCCATCTCTGTTGGGTGCTAGTGTGACCTGCTTTCCCTGTCTTCTCTCAGGCTGGACCCTGCCCTGATACGCCCGGGGCGAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGGCAGCTGACCCAGATGTTCCAGAGGTTCTATCCAGGGCAGGCACCTTCCTTAGCTGAGAACTTTGCAGAACATGTCCTTCGAGCTACAAACCAGATCAGTCCTGCCCAGGTGCAGGGCTACTTCATGCTGTATAAAAATGACCCTGTAGGGGCAATTCACAATGCTGAGTCTCTGAGGAGGTGATCAGGCTGGGCTCAGCTCAGCTCTCCTCCTCTAGCTCAATAAACATCTGCCACACTACTCTGCTCTCTCATCTCCCTTCATCACTGGATTGGTACTTGAGTAAGACGGGCTGCAATCACAGGTGCCTACAGGGGTCAGTCAGGCAACCACATATACAAATGATGGGGCATAGCCTAAGATAAAGAGATGAGACACAAAACAGGAAACTAAATTCCTCTACCTAAAGGCATTCTATGTATATAAATAATGGACAGGCATGGGTGTGTACACAATGAGTTGTTAACGGTGGGTCCTAAGGACTCTGCTTACATGCTGACATCCCACTAGTTTTCCCTGAAACTCACTATACTAGCTGATGAGATGTCAGACCCTCTTTACCCAGCTCTTCGGAGAACAGACTTCAGAGCAAAGTTGGGGGCTGCTCTGCCACACCCCAATCTTATTAGGAATTGAGAAAAAGAGCCATTCCTCACAGGCTAGGCGCTGCTAAGCAAAGAAAGCCAAAGAAGGCCAAATATCTTTATTGCCTCCCTCCCATCCCCAATTCCCTGTTCCCCCCACCAAGTCCTGCTAGGAACCATCCTTAGATTCCAGGCCCAGGGACTCCCTCCGAGTACCAGGCCGGTATGCTCCCTGGCCCCGAGGCAGGCGAGGGTAGGAAGAACCGGGTGTCCGGCCTTTAGAGCGCTCCCAGCGAACACAGTCCCGAGTCCTGCGGGGTGGGGGCCCCTGCCAGCTGCCAGGCCCCTTCTCTTGTGGAGGACCTTCAACTCCTTGGCTATGGGGTTCTGGCTTTAGGTCCATGGGCTCCTTGAGGGGCCCCTCAGGAGGTGGCAGTTCCTGGGTGTCACGGGTACCTTTAGGGGCGTGGCACTCCCCTCCCTTTGGGTGCCTCCGTTCGGGCTGTCGCCAGGGACCTCGACTGGGCTTGGGGGGATCTAGCATAGCTTTCTGGGTTTCGCCCAACCTTTGCTGATTTGACCTGGTCCCTGGAATCTTCTCACATATGTGCTGGGTCGCCACAGGCAGAGGAGGTGGCAAAGTGGATTGGACGGCTGGTGAGGTGGATAGTTCTGCTGCAAGGGTGCTGGGTGGTTGGGATCCTTTGGAGACATCTACAGCTGACTCAGGTTCCGCAGGGGCAGGAGGCTAGAAATAAGTGACAAGATGCAGTGAGGGAGATGCAGTTCCTCAAGGTGGGGAACTACAGGCCCCTCTCCTACTATCTGGGCTGACCACGATCAGCCTATCATCTTCCTGGTTAGAACAAAGCTCACTCTGGGGCCATGGCTGATTGGGGTTTGTAGAAAGGTTGGTGGCATTACAGGACAACTGGGAAGCCCTTCCCTCACCTGCTGAAGGCTGATGAAGTATCGGTTTCGCTCAGCCTCAAGGTCAATGATTCCCCCCCGCTCCTGCTGCCTCTGGTAGAGCCGCTTGCGTTCTTCTTGCTGGCGCAAGCTCTCTGCACTGGGCTGGTACAGCTCCTGGAAGGAAGAATGGCAGAGAGGAAATAATGAACAGCAGAAGGCTGACTCAAACCTCTACTCCTCCC
|
Task1_train_5462
|
An alteration has been detected in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Is it pathogenic, and if so, what disease is involved?
|
Pathogenic; Cholestanol storage disease
|
TTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGGGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAAT
|
TTCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATAGGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAAT
|
Task1_train_5463
|
With a mutation on Chromosome 2 in gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1), classify this variant as benign or pathogenic. Include the disease if it's pathogenic.
|
Pathogenic; Cholestanol storage disease
|
TCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGGGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAATA
|
TCAAGCAATTCTCCCACCTCAGCCTCCGAGTAGCTGGAATCACAGGCGCACACTGCCATGCCCAGCGAATTTTTTTTTTTTTTTGTAGAGGCAGGGTTTTGCCATGTTGCCAAGGCTGATCTCAAACTCCTTAGCTCAAGTGATCCTCCAGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGGGTGAGTCACCATGCCCGGTCCAGTAATCACTTTCACTAGTTTCTTATGTATCCATCCAGTATTTTTCTATGAAAGCAAATACAAATACTATATATTCTTATTTTAGACCTCCTTTCTTAGGCAAAAGATATACTTTTTCACATAATCTATCTTGGATATCTTTCTGTATTAGTACACAAGGAATTTCTTCATCCCTTTTTAAGGTGACATAGTATTTCATTATGTGGATATCTCATGCTTTGTTTATAAATTTGCTCGTACTTTTGTAAATATTAACAAATCGTCCTCCAAGTAGGGATGTGTTATTTTGGAGTCCTACCAGCAGTATATTTTCCTTCCAGGAAAATAGGCATATTCACTGCAGTTTGCAGACGATCAGCTGTTCAAAATTAGAACACACTGGCAGGTGTTCCTGGGAGGTAGAAATGGGAAACAGGTCTAAATGGATGTTAGGGGTTTGTCAAGACTGTCCTTCCAGGAACTGGCAGAATCAGCCATTTGTTCAAGGTGATGTCTGGGTATATGGGTGATATATTGGAGGCAATTATGTTGGATTGGTCCTAGGAGAATCCAGTTTTTAACACCAAAACTAAGATCCAGTAAAGTTGGAGTTTTTCTGGACTATGGGTTGGGTGACGTTTCCTTCTGTAATTTGAATGATAGATTTCATCTCCACAATTGGTAATGTCTCTTTTATAGAAGGTCTTTGGCCTAATTTCTATACTGGAACCGATTCTGATCCTCTCAAAATCTCTTCAGTAACTGATTAGGAAAGATGAAGTGCCCAGGAAACCACTGTGTTTCATTTTCTTTCAGTTTGTAGGTGTAACTTACCTAGGAAATATAGTCTTAGGATTTGTGGGTTATTTTAAATTTTTACCCCCCAAAACGTGTTTCTTTTCCTTCTCATTTTCAGCAACTATAAGACTATCATAGCAATGTCAATTTCATAGAGGCCGTGGATATCTATCGTCAAGTGCTTTAGAAATTCTAAGATAAAATATTTGAGAATTATATTACATAACATGGCCAGTACTTTTTTTTATTTCTTTTTTTGTCATGTTCTTAGATTTCAAAGACAAAATCATATGGAAGCTCAGGAAACTCATGGGAAATAAATAAATAAATAAATATCATACCGCATGGCTTACTTACTTATTTTTGGACCCTGACTTTCTCATCCAGCTTATTGTTTTTTCTGTTTTCTCATCAGTCTTCTTTTTTCTTGTTGATTACATAAGGCATTCATCATTTCATTGACAGCAAGCTGCAGTAGATTTAAATACAAAAAAAGGAGCTATAGGCTTTCTATCTCACCTCACTAAAGGGCTCAGTTTCCCTCAAATGCTGGCCTCCAACATACACCTCAACGTACCTCAGTTTGCCATATAGCCCATTTTTCCAAACTTTCACTCCTCCAAGGACCTCAATGCCTCCAGTTCCACCAGACACGCATTGCTCTAATATTCTAGCTCCTTGTGTGCCCATTTTTTAAATTTGCTCTTCCTCTGGAACAACAGGCCATCCTGGTGCCTACATCATACACAATGCCCTTTTTTTTTTTTTTTTTTTTTTGCCCAGCTCATTTGCTCTTGTGTAGCCATCAGACCCTTCCTCACCTCATCTCCTGTCCTGGGAGCACCTGCCCAGCTTGGCCCAGTTATTCAGTTTTGATTGAACTCCACAGGTGCTTTACAAGGCCAAGTACGGTCCAATGTGGATGTCCTACTTAGGGCCTCAGATGCACGTGAACCTGGCCAGTGCCCCGCTCTTGGAGCAAGTGATGCGGCAAGAGGGCAAGTACCCAGTACGGAACGACATGGAGCTATGGAAGGAGCACCGGGACCAGCACGACCTGACCTATGAGCCGTTCACCACGTGAGCTGGGGCCTGAAGGGACTGGAACAGGGCCCCAGAGGGCCAGGGCGAAAGACAGTGGGCACAGGGCAGGCAGGTGGATAACCGGCAGAATAGTACCCTCTGCATCCTCTGAGCCTGATGGTCTAGAGAGCAGTTGTTGGGAGGTGCTGAAGCCCAGGGACCATTCATTGGCTCTCCACTAATAAATATTAGGTTGGTGCAAAAGTCATTGTGGTTTTCACCATTTAAAATTATGGCAAAAACCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGTTCAGGGGTTCGAGATCAGCTTGGCCAACACGGTGAAACCCCGTCTCTACTAAAAACACAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGGATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAGAAAAAAAAAAAAACTTTTTAACTTGACATCTGCCACTGAGGGTAAGATTTAGGTTGCAGGTTTTCACTGGGCCAGGCCACCTATGACATGACAGCTCAGATTTAGAATCGGAGCTAAACATTATGTAGAGCCCTTTGTAATCTATTTACATTTTTTTCTCTAAAGCCAGTTTCCTGAATAGATGATATCATATGCATGCATTTAAAAGCTCTTTTGTGAATCTTTGAGTCAGATGACTGGGGAAAAAAAGCTATTCTGCTAACTCATGATAAGTTTGGGGTTCTCAAATTTTTGTTTTAACATATATATTTTTAAAATATCATTTTATGAAGCATTGTTTCCTCCAAGTGATTTTTTAACAACCACGTTTAAGTTCTGTATATCCGATTCCTACTGTTGAGAGAGTTTTACTTTTGGAACAACGTGAAGTCCCAACAAATAGGTCTATTCTGGTTTTCATTTCTTTTTCAGCAACACTTTCAGTTTATCTTTTTGCAATTTTCCCTTAACATAATAAAGGCAGCTCCTGGGGTGGGGTGTTGAAGGTCATTAAAGAAAAAATATATATTAAAAAAAATTTGACTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGACTCTACTAAAAAAAAATACAAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGTGGGTGACAGAGCGAGACTCTGTCTCAAACAAAACAAAACAAAACAAACAAAAATACAACTTTATTGGTTTTAAAAATTCAAAAGTAATACTCACCGTGGAAATTCCAATAATAAAATATGAAGTCTCTTGCCCTTCCACCCCTATTGCATCCTCCTTAGCAACCAGTACTGACAGTTTGTTGTGTATTCTCCCCTCTTTATCCAGGAGCATGCAAATATACATGTGGATAGGTAGGATTTTGTCTCCTCTTAAAATTGGACCATATTGTACTTATTGCTCTACAGCTAGCCTTTTAAAAAAATGGACTCATACCCAGCTTGCTTAGGAAAGGAAATAGGTTTGAGGAACAGCTGGGAGTGGGGGCAGTCCCTGGACATTAATCTTGCTTATGGAAAGTATGTTTCCACCCACGTGAGCACCCTTGCCTAACCAAGGAGGAGGCCTGACCACCTACCTTGCCTAACCAGGGAGGGGGCCTGACCATCTACCGCATGACTGAGGCAAGAGCCTACAGCATCAGCCTCGTGGGCCTCCCTGTCCCTCTGACCCACTGAGCCAAGCAGAGCATGAAGGCTTAGAGCCTGAGCACTCCGGGAACCCTAACTTGGTCCTCCTTTATTCCTCAGCCTCTGCAGCTCCCCCTTATTTGACATATGGAAGATTCCAGAGCTGTATAATTCCAAGATAATCAGTCAATA
|
Task1_train_5464
|
Here is a genetic alteration in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Cholestanol storage disease
|
CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGG
|
CCACTCTGCTATAGCGAGATTCTGGTTTGGGGATTCTAAGATTCTGTCACTTGAGATTTTGGTGATTCTATAATTCTAAATTCTAGGAGTATGGGATTTCCCTTGACTCTGGATGGAGGGGGTGGTGGACTTCAGGGTGAGAAGATCTCCCTTAATTGAACCCCCATAGAGGCTTATCTTTGTGCTGTTCCTCTGCGTCCCTGCAGGGAAGGACACCACTGGTACCAGCTGCGCCAGGCTCTGAACCAGCGGTTGCTGAAGCCAGCGGAAGCAGCGCTCTATACGGATGCTTTCAATGAGGTGATTGATGACTTTATGACTCGACTGGACCAGCTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGGCCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGG
|
Task1_train_5465
|
The gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Cholestanol storage disease
|
CTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGA
|
CTGCGGGCAGAGAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCGCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGA
|
Task1_train_5466
|
A mutation found in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Cholestanol storage disease
|
GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT
|
GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCTGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT
|
Task1_train_5467
|
Given a variant located on Chromosome 2 and affecting CYP27A1 (cytochrome P450 family 27 subfamily A member 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Cardiovascular phenotype
|
GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT
|
GAGTGCTTCGGGGAACCAGGTGTCGGACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCTGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGT
|
Task1_train_5468
|
A variant found in Chromosome 2 affects CYP27A1 (cytochrome P450 family 27 subfamily A member 1). Please analyze its biological impact: is it benign or pathogenic, and what condition might it cause?
|
Pathogenic; not specified
|
GACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATG
|
GACATGGCTCAACTCTTCTACTACTTTGCCTTGGAAGGTACCCTTGCTGGGAGAGGGGCTGGGGAAGGGAATGGGTCAGGGAGAGGTTGTGCTCCCTCTCCTCAAGGGCTCCTGGATTCCATATGTCCTGGTTCTGCCTCCTGTGATGGCCTCTGTGCACTACTCAGCTATTTGCTACATCCTGTTCGAGAAACGCATTGGCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTCGTCAGATCCATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGATGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATG
|
Task1_train_5469
|
Here is a variant affecting CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Please identify whether it is a benign mutation or associated with a disorder.
|
Pathogenic; Cholestanol storage disease
|
ATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCC
|
ATCGGGTTAATGTTCCAGAACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGTCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCC
|
Task1_train_5470
|
A genetic alteration is present in CYP27A1 (cytochrome P450 family 27 subfamily A member 1) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Cholestanol storage disease
|
ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT
|
ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCAGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT
|
Task1_train_5471
|
This genomic variant is located on Chromosome 2, within the CYP27A1 (cytochrome P450 family 27 subfamily A member 1) gene. Can you determine its pathogenicity and name any linked disease?
|
Pathogenic; CYP27A1-related disorder
|
ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT
|
ACTCACTCTATGCCACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCAGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGT
|
Task1_train_5472
|
The gene CYP27A1 (cytochrome P450 family 27 subfamily A member 1) is located on Chromosome 2, where a mutation has occurred. What is the medical relevance of this mutation?
|
Pathogenic; Cholestanol storage disease
|
ACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCCGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGTCATCACAGAGAGCT
|
ACCTTCCTCCCCAAGTGGACTCGCCCCGTGCTGCCTTTCTGGAAGCGATACCTGGATGGTTGGAATGCCATCTTTTCCTTTGGTGAGGACTCCCAGATGGGGCCCAGGGAAGAGAGATGGGGGTGACTCCAGGTCTGTGCATCAGCGGTCTCTCCCAGGCCTTTTCCCTCATGCTACCAGTTGTCGGAGTGGCTCTTGGTCCTTGGAGATCATGACTTTTGGCTTTGTCCTTTCCTCTTCTCTGTTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAACTGCAGGCAGCAGGGCCAGATGGCATCCAGGTGTCTGGCTACCTGCACTTCTTACTGGCCAGTGGACAGCTCAGTCCTCGGGAGGCCATGGGCAGCCTGCCTGAGCTGCTCATGGCTGGAGTGGACACGGTGCGTGAAGGGGGAGGGTGAGACCAGGGGCCCCCAGCTCCCAACCTGAACCAGTTCCCTATTATCCCTCACCTGATCCCGACCTTCATCCCTCCAAGGACCTGCTTCTTTTTCTGTAACATGGATACAGCCCTAGAAGGAAAATAGAGGGCTTGCTCAGCTTAGCCGAGGTGGGAGGACAGGGGATGGTCCTTTTGTAAGAAGGATGCCATCACCTCCTGGAGCCTCCTCACTCTCTCTGACAGCTGGGAAGTACATCTCCCATCTATCCAACTCTCTTGCTGCAATTTGAATGGAGAGTTGGAAGAGCTCATTCACAAGCACTTTCTTTCTTTTTTGTTTTTTTTAAGATGGAGTCTCACTCTGTTGCCCAGGCTTGAGTGCAGTGGCTTGATCTCAGCTGACTGCAACCTCTGCCTCCTGGGTGCAAGCAATTCTCCTGCCTCAGCCTCCCAGGTAGCTGGGATTACAGTTGTGCACCACCATGCCCAGCTTTTTTTTTCTTTAAATTTTAGTAGAGACGGGGGTTTCACCATGTTGGTCAGGCTAGTCTCGAACTCCTGACCTCAAATGATCTGCCTGCCTCGGCCTCTCAAAGTACCGGGATTATAGGCATGAGCCATTGTGTCCAGCCAGCACCTTCTTTCTTTATGGTTCCTATTTCCAGTGCTTTCATCCTGTTGGGTTTCTCTGTGTTGCCGTCCCCTCCTCCACTGAAGGTGCGATTCTTCATCATATCGGCCCTCATCCCACTGTGGATTCATGTTTAGCATGGAGACTGCCATGAACCTGCATGTTTTTTCCTGCTAGGCTAGTGGCAAATTCATTTCTCCCACATTTTGCATACACCCACTCATACACCCTCCCATTACTGGCCTCTTTCCTAGAAATCGCCCTCACCTGATCTCCCACTCTATCTTCTAGACATCCAACACGCTGACATGGGCCCTGTACCACCTCTCAAAGGACCCTGAGATCCAGGAGGCCTTGCACGAGGAAGTGGTGGGTGTGGTGCCAGCCGGGCAAGTGCCCCAGCACAAGGACTTTGCCCACATGCCGTTGCTCAAAGCTGTGCTTAAGGAGACTCTGCGGTAGGACAGAATGCTGTTCTGGGGGGCACAGGATCTCTTTGTGGGGAGGGAATCAGAGGAGGAAATCTGAAGTGAAGACAGGTGGGCTGGGGCTAGTGACAAGGATGAGATGGGAGAGGTAGGGGAGAAGGAGTGGGGCACTTTGTACCCCCATGAATCCAGAGCAGACTCCAGACATTCTTTTCCCTGCAGTCTCTACCCTGTGGTCCCCACAAACTCCCGGATCATAGAAAAGGAAATTGAAGTTGATGGCTTCCTCTTCCCCAAGAACGTGAGTGGGGCTAGAGAGCCCGATTGCCCAGGAGTGCCCTATGCCCCCGAAGAGAGGCATTCATGCTGCCCAATCTTCCTTTATAGACCCAGTTTGTGTTCTGCCACTATGTGGTGTCCCGGGACCCCACTGCCTTCTCTGAGCCTGAAAGCTTCCAGCCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAGGATCCAGCACCCATTTGGCTCTGTGCCCTTTGGCTATGGGGTCCGGGCCTGCCTGGGCAGCAGGATTGCAGAGCTGGAGATGCAGCTACTCCTCGCAAGGGTGAGCTGGGAGAGGCTAGTAGGGTGTGTGGGCAGGGAGGGGTGGAGGAGTCCTGGGAGGAGAGGAAGGGAGGCACAGGGTAGGAGTGTGCAGAGCGGGGAGTGGATGGCAAACACACAATCCACCCAACCACATGTGCTCTTTACCCCCCAGCTGATCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAGTTGAAGAGTGTGGCCCGCATTGTCCTGGTTCCCAATAAGAAAGTGGGCCTGCAGTTCCTGCAGAGACAGTGCTGAGCTGAGTCTCCGCCTTGCTGGGGCTTGTCCTAGAGGCTCCAGCTCTGGCACAGTGGTTCCTGGCTGCTGCCATGTCTCAGATGAGGAGGGAGAGAAGGAGGCCGCCAGACTCGAGAGGTGGGAGGAACTCCTTGCACACACCCTGAGCTTTTGCCACTTCTATCATTTTTGAGCAACTCCCTCTCAGCTAAAAGGCCACCCCTTTATCGCATTGCTGTCCTTGGGTAGAATATAAAATAAAGGGACTTTTATTTCTTATTGGAGACCTTTGTCATTCTTTTTGACTACCCAGCATCTGAGGGAATTCCTCTCCTCCAGTGAGTCACGGTGAGAGGCACAGCCGCCCCTGTCCTTGGAAACTGAGAACACCTTTTGCTTTCCCAGACCTCACAGAGAGGCCTTGGTTTCACGAGGCACTGGTTGAGGCCACACCAAGCAGGAACTGCAGTGACTCCCAAGCACTGTGTCAGTCAAGCTGCGGTTGTAGAGAATATAAACCACCCTCTTTGAACAGAAAAAGCAGATACAGGCAATGGGGTGCTACAAAAATTATTGGAGGTGCTCGAGACCAGGCTAGAGTTGACCTCCAGCAGGCACTGAGCAGCTTGGGGAGCACCATGTTGGCCACAATCAGGAGGATGAGAGTCTAGAAGCTATTGCTACAACTATTGGCTCTAGAGCTACTCCATGTCAATGAAGTTCAAGTAGGTCTGTGCCGGCAAAACAAAACAAAACAGGTCACGCAGGATGACCCCCATCCTGTCTCTCAATACCCATGAAGCCAGCAGTAACTGGACTTGGACCTCTGCAAATGCCTCGCGACTGCTCCTGACAGCAGAAAGGGCAGGAGCTTCTACCTCTCTTCCACCTTTCACATCTCTCACATACAGCTGAGAGGAGGAACCTAAGTCCTGCCTGGAGCACTAGCTGTAAGGGAGCCTAGGGATTATAGCTTTTAACTGTCCAGCCTCCTTGCAACAAGAAGCCCACTTGAAGGAAAGTGGGTTGCCATTGAGAGCCGCCAGTGCATCACAGCACTAGCCTGGAAATTCAGAGTCCAAGCCCCAGCAGTAAATTTTGGTGGAGTCATAGAAAAAAATGAAGTTCACTTTCTTTTTTAAAAATTAATTTGATTTTTTGAGACAGCGTTTCATTCTGTCACCCAGACTGGAGTGCAGTGGCACCATCTTGGCTCACTGCCTCCTTAACCCAGGCTCAAGCGATTCTCCCACTTTAGCCTCCCGAGTAGCTGGAACTACAGGCACGCACCACCTCGCCTGGCTAATTTTTGTATTTTTTTTGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTTGAACTCCGGAGCTCAAGGGATCTGCCTGCCTTGGTCTCCTGAAGTGCTGGGATTACAGGCGTGAGCCACTGCGACAACCTAAAGTTCACTTTCTCAGGCCTGTGGGAATGATAGGGTTTGAACTCATTTAAAAAATTGTGTCATTGCCCGGATTAAAATACTCCACAACTGCCCTCAGCCCTCAGGTCAAGTTCAAAGTTGTTACTGTGGCTCATAAGACCTACCGTGCCCTGGCACCCTGCACCCTGACCGTGGTCACCCTTTCACAGCTGAGCCTGAATTCTTTGCATGTCTCTGAACACATTATGTTCTTTCCAGCCTCAATACTTTGTACCTCCTGTCCCCACTCTTGGAACACCCTCTTCCCTAACTGTCATGTCATCACAGAGAGCT
|
Task1_train_5473
|
The gene WNT10A (Wnt family member 10A) on Chromosome 2 contains a mutation. Based on this information, is the variant pathogenic or benign? Provide the disease if relevant.
|
Pathogenic; Tooth agenesis, selective, 4
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
Task1_train_5474
|
Gene WNT10A (Wnt family member 10A) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; Odonto-onycho-dermal dysplasia
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
Task1_train_5475
|
A variant affecting Chromosome 2, within the gene WNT10A (Wnt family member 10A), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; SchC6pf-Schulz-Passarge syndrome
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
Task1_train_5476
|
A mutation in WNT10A (Wnt family member 10A), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Tooth agenesis, selective, 4
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
Task1_train_5477
|
Assess the clinical impact of this variant on gene WNT10A (Wnt family member 10A), found on Chromosome 2. State whether it’s pathogenic or benign, and the disease if applicable.
|
Pathogenic; Odonto-onycho-dermal dysplasia
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCATGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
TTTCTGCAGCATGGTAGGGAGAGTGGGGAGGGCAGGGGGCAGTTGGGGTCAAATAAGGCTCTAGCTGACGCAGTCTGCTTGCTGCCCCTGGCTGTTTTCCTGCAGTCCAGCCAGACTGCTCCCCCCCCACTGCCCCACCCCCACCCCCAGCAGCCTCAAGCCCTTAATTCCTGACAGCTGCGGTGGCTGCCGGCAGAGATGAGGGGGAAAGGAGGGGGGAGTATGCCGTCAGCCTGCTGTTGCTCAGGCCGCCCCCACCACCTGACAGTCTGGGGACAAGGAGGGCCCCACCCCCTCCTTCAGTTCCCCAGGGATGGGCAATTCCAGGAATGGGCCTTTTTTGTCTCTGAGCCCAGAGGCTCCCATAGTTTTGTTCCTAAGCCAGCAGGGGCTCTCTTCAGAGAGAGGGGCATGTTTGTGTAAAGGCTTGTGCCCATTTTACAGAGGAGGATGCCGAGGGCACAGGGCAGGAGCACGATCCACTATCAGGGCCCAGGCTAGCACCAGAAACAGACGGCAGAGCTGCCTTTCCCCTGCCCTCTGGCTCTCAGGCCCTTGCTTGGGCCCAGCACACTTGCACTATATCGAGGAGGGGCCCAGTGTTCAGTTGGGGTGGAGGGACAGGAAGATCTCAGCGAGAAGTAGACCTGAGCCAGGAGGCTGGTATTAGGGACCTCCTAGAGGACCATGTGCAGGTGGGGCCAGGGAGGGCCAGGACAAGACTGAGAGTATCTGCGGGCACAGGCAGGCAACACTCAGTGTTGGGGAGGCAGCTGCTGCGCTGGGAGTCAGGAGAGCTGCGTTCGGTTCTCGCTCTTCCGCTAATTTGCTGTGTGACCTCTTTGAGCCTCGATATTTTCTTGTGAAATAAAGGGGAGCTAAATAAACTATCTCAACGGCCACTTCTAGGGTTAAAAGTCTCTCTAACGCCTCCTCCCAGGACGTGCCACCCCGGGCGCTCCTACGCAAGCATTTTCTGGGGGCCTGACACTGCTGCCTCCCCGGGCTCACTGAGGAGACAAGGTGGTCCCCATGAGCCGCATTCCGCAAAGGGGCAGAGGAGGTCTCCGTGAGCAGGAGCAGGAGGCACCTGTTTAAGGTCACACAGCAAAGGGGAGAAGAAACCAGAGGCTGCCAAACTCCTCTGCAGGAGCCCACACCTGCCTCACACCAGGCAGGCCTGGGGGAAGTCCCTCCTCTGGCGGAGGAGGCGAAACACAGAGGCCAGCCCCTCCCCTCCAGCCCCTGCAGGTGTGTGTGTTGGGGTGGGATGGGGGCGCTCCCCAGCAGCTGCGTCTCTGCCAGGCACACACACCTCGCGGTAACACATATCCCCCACACAACCCAGCGCGCTCCACACACAGGCATCTTCCTGTGCACGCGCGCACAGACCCCAACACCTTTCCCTCTGTTGCCCTCAGCAGGGACGCTCCCACCCCCAGTCCCCAGCGGACGCAGTGGCCTCGGGACTCGTACACGCCTCCACGCCCCGCCGCGTGACGTCACGTGGGGTAGAGCCCTGAGACACTAAATGGCGGGGGGGTGGGGGGAGGAAAGGGAAGGCGGCAGAGCTCCCCGAGCCGGGACAGTCACTTACTCTACAGGCAGTGGGGCCCGACACAGACAGCGCCGCCCCCGCCAGCCAGCCTCGCACGCCCTCGGAAGCGCAGGCTCCCGGCGCTGCGCTGGAGGGTTCCCCGGCACCCCAGCCTCCCGTCCCCAGCCCGCTGCACCTCCGGGCCCCCCTTACCCTTGAGAGGCACCGGGAGTTGTCGCGGGGGGGCCTCGGGAAATTCCCCGGACCCCTGTGCCAGGAGGTGCCCGGTTCGCCCGCTCTTCACCCCCCGCCCCCCCCGAGGGCGGTGCCCGGGGGTGCTGCCCCATGGAGCGGGGAGGCGGGCGCCGTCTGCTCCGGGAGCCCTGACCCGAGTCGGAGCTGTGTGTCGCAGCCGCCCCGACCCCCCGCCGATCATGCGCCGGCGCCCCTGGCTCTCCAGTCCCACTGGGCTGTGAGCCCCCCACTCCCAGCCCGTCAGGGCCTGCGCGCCTTGGGCAGCGCCCACCCTCGCCCCTGGCTGCGGCTCCGACCCCAGCCCCAGCCGCGGCCAGCGCTCTGGGTGCTCCTGTTCTTCCTACTGCTGCTGGCTGCTGCCATGCCCAGGTGAGCCCTCACCTCATGCTCCGCCCTCCTAGAGAGTTGGGACCCCGGCCTGCAGGGGCCTCTGATGCTCTTGCTGGGGTAGAGGACCCTGGAAGAAGGGAGGGACAGGGTCATAGGAAAGTGCTGGTGCCCAACCAAAGGCAGTGAGCTCCCTCATAGGAGGGGGTTGGACTGGTGACAGGATATGGGCAGTCCAGGGAGACAAGGCAGTGCCCAGGAGCATGATGGCAACTAGGAGGGGAGGTGTGTGTGGGGGGGGAGCAAGTGCCAGTCTGGAGTTCCTGCCCTGTTGGGGGAATGCACCCCCACCTCAGGAGTAAGCACAAGCTGCCTCACTCCTTCCTGCAGCTCAGCCCCAGGTAGGGGCAGGGGTTGGGAGGCTGGAAGGGGGTAGCCCAGGTGGGGTCAGTGAGAGACTGCAGCTGCAAGAGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCAATCGAGCCCAGGATCCCAGCAAACTGTGTTGGTAAACAGTAGTTTGTATGTGTGCCCATGTGTGCATGTGAGAGCTCATGGGTCAATGTATGTTAAGATGAACACATGTGTAAATGGGAGTGTCTTTGTGTGTGTGTCTGTAACTATGTCTGATGAAGTGTGCATGTGCGTAAGTGTGCTGGGGTTGGGTTTGTGTGTCCACCACAATGTGTGCAGAAGTGTGTCTATGTGAATGTGACTGAAACATATCTGTGGGAGTGGGCTTGTGGGGAACCCTGTGTGTATGGGCATCTATTCCTGGGGATGTGCATAGGAAATACTGTGGCCACAAGCATGGTGGATGTGTGTGCATTTGCACGCTTACCTGTGTGGGTGTGCAGCTAGCTGAGTGAGTTGCACTGGGCAGGATGATTGTGAGGAGGTCAAGGAGAGAGGAATGTGTAGGAGTGTACTGATGGGCCCAACCTTCAGAAGCAGAGGTTGGAAGAGGGAGTGATTATGGCCGTTGGGACAGAGTGTGTGTTGTTAGATGGGGCTCTCCTGGTCCCCCCAAAACACGTACCCACTCCACCCCATATGTCTGCAGGTCAGCACCCAATGACATTCTGGACCTCCGCCTCCCCCCGGAGCCCGTGCTCAATGCCAACACAGTGTGCCTAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGTGTGCGTCACCCTGATGTGGCTGCCTCAGCCATACAGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTCAGGGACCAGCGCTGGAACTGCTCAAGCCTGGAGACTCGCAACAAGATCCCCTATGAGAGTCCCATCTTCAGCAGAGGTAGCTGCCCCTCACCCCTGCCCCTGCCTGCCCCATCCAGCATCTCCACCTCAGAATCTATTCCCAGCCATTTCTAACCCACTGCCTCAAGCTGGCATCCTCCCATCCCCACACACCCATCTGTTGGCCCTGCTGCTCTCCTTCCTCTTTCTGATCTCAGGCCATGGGGGCAGAGAAATTGGGCAAATGTGTCTCCAGACTGGGCTGTGTAGGCTGAGGGTGGCAGGTTCCATGCCTTAGAACTGGACTCCTGGGTCATCCTGCCCTATCACTGACACTGCATATCTCAAACCCAGGAAATATCTGTACCTGTCGCTTGCCTCTACTTACCCTCTGCTTAGTAAACCACATTTAGGATGGGGAACCCATGAGGAAGAACCCAGAATCAGCATGAGGAGGGGTTGAGGACTTTGCCTAATCGTGCAGATGGAGGCAGCCTGGACAGGTAAAAAGTCTGCCCTTCTGCAGAAGCTCTTCCCGGCGGGGGACACCACCAGCCTGTGTGTCATCCCTGCTGCCTCTGGAAAACCCTCTCTGAATCAGAGGTGCTGGGTGTGTGTGTGCCTGTGTGCAGTGGCTCCTGCCAGCAGGCCTAGTAGTCCTGTCAACTCCTCTTCCCC
|
Task1_train_5478
|
A variant has been detected on Chromosome 2 in WNT10A (Wnt family member 10A). What is its effect — pathogenic or benign? If pathogenic, name the disease.
|
Pathogenic; Odonto-onycho-dermal dysplasia
|
AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGACATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC
|
AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGGCATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC
|
Task1_train_5479
|
Here is a genetic alteration in WNT10A (Wnt family member 10A) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; Tooth agenesis, selective, 4
|
AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGACATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC
|
AGGCTGGTTGGAGACTTGTACCAGAACTTGTTCCTAGCTGGTCCATTCTCAGATGCAGAATAAGCAAAAGATAGCTTGCATGTCTGAGAATGGGACCCTCCTTTGCAAGTAGGCCTCCCCCTGCCACAGGTCCAGGTGTTCCCAGAGAATGGCTCAGGTTGGAGCACCAAGAAGGAAGGCAGTGTGGACAAGCCAGTGGCCAGGCCGGCCTAGCCGCGGCCCCCAAGAGTGGCTTGGTCAGGGAAAATCTGTGCCTCCTGAACATCTGGTGGAAGGTATCTGCCTCAGCTTGCCCTTCCTTCTCCATGTTCAACACTACTACATGCCAGACCCCATGCAGGACCCTGGGCTTCCCTCTAGCGTACCTCCAACAGCCTCTGCAGCTGACCTGGGTGGGTCACAGGCAAGGTGGCTGGGTAGCGCCCATTTCTGAGTGGCTTTCAGGGATGTCCTGTGGACAAGCAAGGGGAAGCTCTGGTGACCCATTTCTTTGCCTCTGGAGTCTGGTCATTAGGGAGGATCCTATGCTGTGCCTAAGATGGGCACGCACCCAGCAGGCTATCTTGGGGCAGGGAGCATTAGGAGCTGACCGTCTCCTCTTACTTACTCTGCTGCCCACTGACATCTCCTAAGGCCTGGAATTTCATCATTGACAATTTATTCTCTTTTTTTCCAAAATTGTGTACATTTTATTTTATGAAATATCATTTTATTTATTTATTTATTTATTTCAATAGGTTTCTGGGGAACAGATGGTGTTTGGTTACATGAATAAGTTCTTTCGTGGTGATTTCTGAGATTTTGGTGCACCCATCACCCAAGCAGTGTACACTGCACCCAATGTGTAGTCTTTGATCTGTCACCTCACACCCAACCTTTCCCCAAGTCCCCAAAGTCCATTGTGTCATTCTTATGCCTTTGCATCCTCATGGCTTAGCTTCCACTTATAAGTGAGAACATACGATGTTTGGTTTTCCATTCCTGAGTTACTTCACTTAGAATAATAGTCTCAAATTCCATCCAGGTTGCTGTGAATGCCATTATTTTGTTCCTTTTTATGGCTGAGGAGTATTCCATGGCATATTTATACTGCAATTTCTTTATCCACTTGTTGGTTGATGGGCATTTGGGCTGGTACCATATTTTTGCAATTACAAATTGTACTGCTGTAAACATGCGTGTGCAAGTATCTTTTTCGTATAATGACTTCTTTTCCTCTGGGTAGATACCCAGTAGTGGGATTACTGGATCAAATGGTAGTTCTACTTTTAGTTCTTTGAGGAATCTCCACACTGTTTTCCATAGTGGTTGTACTAGTTTACATTCCCACCAGCAACATCACTGGCAATGAATTCTTTAGCTTAAATGTTGCCCTCATTCTGTGGGCTTATTTTAAAATTGCAGATACCACTGTGAGAGGTAATAGATTAAGTCCCTGATTGTAAAAAGAATGTGTTTACCTGATACTTTCTGCTCTACAGTAGAGATGTAGACACACAAATTCTGAGTTTGCTAAAGGTGATGTTAAAGAACAGGAGAAGGGCGTACAAAAAGCAGAGGGCTATTGGGAAGCCTCCCTCCCACCCCACCAGGTTCTGTTTGCAGAAGAACTGGCTTCTGGCGTGATTTCTGCCCTTCTTTGACTCTGTTTCCTTGTGCCAGACTCTCCTGCATACTGGGCTTCAGTTTCTCCTTGGAATGATGAGAAAGGTGGGCTGGAGAATGGGGTGTCAAGGCCCCTCCAGAGTCCATGTGTTCTGGGTCTTTAACCACAGGTTTCCGAGAGAGCGCTTTTGCCTACGCCATCGCAGCAGCTGGCGTGGTGCACGCCGTGTCCAATGCGTGTGCCCTGGGCAAACTGAAGGCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGCCTTCCGTAGGAAGCTGCACCGCTTACAACTGGATGCACTGCAGCGTGGTAAGGGCCTGAGCCATGGGGTCCCGGAACACCCAGCCCTGCCCACAGCCAGCCCAGGCCTGCAGGACTCCTGGGAGTGGGGCGGCTGCAGCCCCGGCATGGGCTTCGGGGAGCGCTTTTCTAAGGACTTTCTGGACTCCCGGGAGCCTCACAGAGACATCCACGCGAGAATGAGGCTTCACAACAACCGAGTTGGGAGGCAGGTGAGAGCCCCACCCCTGGGTCTGCTTCAAATCTCTTTGCCTAGGGCCTACCCCTTGCCCTGGCCTACCTCTCTTCTGAGGACCACGTTGCTCCCACATGTCACACCTTGGCAATCTTCTCGTTGACCCTGTCTAATTCAACAAACATGCACTGAGTATGCACTGTGCACCAGGCACTGGACTAGGCCTGGGGATACAGGGCAGAAACAAGCCCTGTTGCCCTGGATCAGCATACCACCTGCTGAGCAACCTGCTTCTCCTACTTCCTCGGGTGATCACCCAGGAGAAAGGACAGGGGTGCAGTCAGGACTTCAGGAGTCTAGGCCTGGAGCTCCCATCTGACTCCTCCCCTATAGAGTGACAAGGTTGAACTAGATCATCCCTAAGGTTCCCCCCAATGCTAATGTTCCATGATCCAGTGATCTCTCCCAGCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACC
|
Task1_train_5480
|
A genetic alteration is present in WNT10A (Wnt family member 10A) on Chromosome 2. Is this variant benign or disease-causing, and if the latter, which condition is involved?
|
Pathogenic; Odonto-onycho-dermal dysplasia
|
GCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGTGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTGTTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCAC
|
GCCTTTCTGTGCAGTCTAGAATGAGGGATTCCTGCAAAGTAAGGGGTGTAAGTGAAGTTCCTAGGGGCCACTGGGGAACTGTGTTATGGTGCCTTTCTCCTTTATCCTCTGTCCTCAAATGCTCCTACTACCTCAAGGGTCATTCATTAAAAATAAATTAAATACATACACACATACATAAAAAAGCAGCAGAAGAAAGGATAGTGGTAATAGCCTGCATTTATTGAGTGCTTACTATGTGTTAGGCACTGTCTTGAGCACTTTCCTACATATTAACCTATTTAATCCTTACAACTACCTATGAAGTGGGCACTGTTATTAACCTTATGTTGAGATATGGAAACTGAGGCATGGATTGACCAAGAAGCTTGCCCAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGAGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTGTTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCAC
|
Task1_train_5481
|
A genomic change on Chromosome 2 affects WNT10A (Wnt family member 10A). Classify this variant as benign or pathogenic, and name the disease if relevant.
|
Pathogenic; Odonto-onycho-dermal dysplasia
|
CAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGTGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTGTTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCACTCTCCTTCGCTCTCGGATCTGATGTTTTCTGGAACAGACCCTCAAGGAGGAGGGCGGTGGAGAAGGGAGTGAGGTCAGGATCTCAGGGAAAGAACACTTTACCTACTGCATCCAGGCCTCTTGCTGCTCACACTTGAGGATCCCGCTGGCTGCCTCAATTTACCCTAGAATAGCACCCCTCTTGATGAACCAGGCAAGGATGAAGACTTGTTCCTTTCCCCAGTGATCAGCCAGCACAAATCCTCCATACTTTCCACCCCTGATCCATGTCTCCCTACCCCTGAGTAGAAGTGAGAAGGAAATGGGGGCCTCTTAGTGATACACCCCAGTAGGCCCACCAGCTGGAAGATTTGCCTCCATGAGCTTGCCCCTC
|
CAAAATGATGCAACTAGTGAGAAGGTGGTCCAGGCAGGGTTCATCCCCAGGCAGTTGACCTTTGAGCCTGTTCTCTTTTGTTCTACAGCGTTGAGTCCACATTCTGATGCCCTGTTGGCTCTCATGGTAGCTCAGCACTGTCCTTTCCTGAGCATTCCATCTCCATCATCCCTTCTTTTGACTCTGCTCAGCCTGTTGAGGCCTTTTACCTGGCTTCCTCTCACTCTGGCTGGCACCTTCTCCATCTCACTCTTCTTTCTCTTGGCCTCTTAGCCCACGATGGGTCATCTTCCTGCACAAAGCTGATTCAGCAATTCCCATCTTGACTTAGAGGCGGGGTAAACTGAGGCACACTTACCCTTGGGTCATGTCCAGCTCCCACCCAGCCTGCCCTGTACAGCTCTTTTCCCAAGCCTCACCGCCATCCCAGCCCATACCAACGGTGCCTCCTCCTCCTCCTCCTCGTTAAACTGGTTAATTAATGGCTGCTGCCCGTGGGAAGCAGATGTTCTGGAGCTGTTGGCCTGGGGAGGCATTGGTCTGGTTCCCACGTGGTGCTGACAGCACAGGCTGCGCATGCACGCTGTGGAGCCCTTTCAGACCTCGAGGGGAAGGCGCCCTCTCTTATGGCCCTACTGCCCAAGTTTAAGGGCCCTGGATCATTGCCGTCCCTGTCTCAGGGTGTGTTTTCGGAGTGGACTGAGGGAAAGGAGGGGATGTGGCCAACTTCTTACGGGGTTTCTGGTGAAAATGTCAAAGGGTTCTTAGTAAGGAGACTCTAGAGCAGGTTGTGAGCTGGGTTGGGGGCGGCTGGGTTGCGTTCCCATAACCACCTCCCTTGGAGGCCTGAGACCTTCTCCACTTTCACTGAGCTGGAGAGCCTGGCTCTCTCCGGTTCCATTCTGTATTAGGTAGAGCTTTGGCCCCTGGTGGCGCTGACTTTTCCTAGGACGAACCATGGGTCTCAGCATAGTGCAGAATGAGCCCCAGGCAGCATAATCGGGGACAGTTTCCCCAGCACTTGTCCCCCTCCTTTGGCTCTCTACAAAGAGATGTAGGGGGAGCTGGAGAGGGAAGGACTGAGAGGGGGACCAAGGCTTTCTGAAACTCACCGAACACCCCTCCACCCACCCCACCACACACACACACACACACACACACACACACACACACACACACACACACACACACACGGCCTGGAGCGAGATACAGCGGGGCCAGCACCCTCCTGCTCCTGGCCCCTACCCCAGGGGTGGCAGGAGAGGGAATTTCCCTGCCTATTTGGGATCCCCCTTCAGGAAGCAAGAGCCTCCAGCCCCAAGGGCCCCCTGCAGCTGCTGGAAAGGCGGGCAGGAGAGGAGGGGAGCCGGCAGGTGGGAATTCCCCCGGGGCCTGGCCTGGTGGGAGGTGGGTGGGAGAGGCAGAGGCAGAGGCAGAAGAGCAGGTACAGAAGTTCTTCTGACTGCCTGGTTGTGGGACCCTCGCTCCCGGCCTCAGCGTTTGCCTCTGTATAATGGGAGTGGGTTTCAGAAGCAGGCCAGGCTAAGCGCTGGGAGGGGAGTGGGGCTGCGCGCCGTGTCACCCCTCACGGTGCCTCCCTCCGCAGGCAGTGATGGAGAACATGCGGCGGAAGTGCAAGTGCCACGGCACGTCAGGCAGCTGCCAGCTCAAGACGTGCTGGCAGGTGACGCCCGAGTTCCGCACCGTGGGGGCGCTGCTGCGCAGCCGCTTCCACCGCGCCACGCTCATCCGGCCGCACAACCGCAACGGCGGCCAGCTGGAGCCGGGCCCAGCGGGGGCACCCTCGCCGGCTCCGGGCGCTCCCGGGCCGCGCCGACGGGCCAGCCCCGCCGACCTGGTCTACTTCGAAAAGTCTCCCGACTTCTGCGAGCGCGAGCCGCGCCTGGACTCGGCGGGCACCGTGGGCCGCCTGTGCAACAAGAGCAGCGCCGGCTCGGATGGCTGCGGCAGCATGTGCTGCGGCCGCGGCCACAACATCCTGCGCCAGACGCGCAGCGAGCGCTGCCACTGCCGCTTCCACTGGTGCTATTTCGTGGTCTGCGAAGAGTGCCGCATCACCGAGTGGGTCAGCGTCTGCAAGTGAGCGGCCCGGGGTCCCCTGGGCCCTGATCGAGGTCCCCTCCTGGAGCCTGGCCCTCTGAGGCTTACGGTCTTGGCAAGGCAGCATCGCCTTGGCTCTTGGGAAGAGGAGATTGGACCACATGATCTTATAGGAACCCCTCAGCTCTGAGGTCTGTGATCGCCGGACAGTCCAGGCCTGTCTGAACCCCACCACTCACTTCTGTGGGCTCTAGGACTGACTGGGTTCTTCCTCCCTCCCCGAAGCCCAGACAGTTCAGTTGGGCTGGGGGTTGCTCCACACCCTAAAACAAGCCTCAGCCAGGCAACCCGTCAGTCTGTCTCCATCCTTTCACCCCTTCCCTGGAGATGGGAGGTGGGGAATGAATGGAAGCTGACGGGCAGAGAGAGGAGGATTAAAAAAAAGAAATAGACATAACTGAGCTGAAGTAATTCCATAAAGGGCCCAGACAGCCTCCTCCACCATTCCCTTCATCATTCATTTAACAAATATTTATTTTGCACTCTCTTTGCGGCACTCTGGGGGCGGTGGGGTGCGTGGGGGTGGCAATGCAAGGCACTGAGGCCACAGATGTGAGTAAGCGAGACACAACACTTGTCCTCTTGGAGGTTACATTCTTGCTGGGGGGAGGCATGGGCAATAAACAAGTAAATATACAAACAAGGTCATTTCAGACAATGCTGTGTGCAGGCTGCTGGGTGTAGGGGGATTTATGGGGAGTGGGGCTCCTCAGACAAAGCCACTGTTTTTTCAGGGAAGGCCTCTGTGAGTTGTGATACCTATGCTGGGACCTGCATCATAAGCCATGCAAAGAGTATGGGTAAGGGCATTCCAGGCAGAGGCCATGTGAAGGCAGAAAGTGTGAGCTGAGAAAGATCTCTGCCTGCTGGAGAAACAGCAAAGGGGCCATTGTGATTGCAGTGAAGAAATCAAGGGACAGACTAGCAGGAGAGGTGTTCAGAGGGTGGGCAAAGGTCACATCGTGTGTCTCTCTAAGCCAAAGTAAGGAGTTGGGGTTTTATTAAAGAGGAATGGGAACCTTGAGATCCTTAAGCAGGGGAGTGTCCTGGTCCAAGTCTCACATGGATCGCTGATGGGGAACTGGCTGAAGGGGGATGAGGTGACAGCTGGTAAGCCAGTGAGGAATAACAACCATCTTCTAAGTCAGAGATGGGGCTTGGACTGGTTGTAAGCAGTGGGGATGTCGAGAAGGGCTCTGGTGCCAGAGCTCTAACCGCCCACCTTGTGCCTGAGCCCTCTGCCACAAGCCAGGACGAGTGGCCGTGCCCAGCAGCAACTGTCTGCAGAGACAGGAGGCACTCAGAGGAGTAATCCTGGGCAAGACCCAGCTCAGCCCAGCCCAGCGCCCCGGGGAGCAGGTGGGGCCAGGAGGCGCGGCTGGGAAAAGGGTGGCGGAGGAGGGCCCGGAGACTCACTGTCTGGATTCTGGTCTCTCTGAGTCCAGGCAGGGTATGTAAGTAAGGTGCAGGGGGCACATTCTTCCTGGGCCTCTTGTGCTCCCAGATCCCCATATCAGGGTGCTCCTTAGCAGGTCAGCAATCCTTCCCCACCCTCATGTCCCTGTGAGGACACTGTTGAGCAGTTTGGGTCCAGTGTTGCACTCTCCTTCGCTCTCGGATCTGATGTTTTCTGGAACAGACCCTCAAGGAGGAGGGCGGTGGAGAAGGGAGTGAGGTCAGGATCTCAGGGAAAGAACACTTTACCTACTGCATCCAGGCCTCTTGCTGCTCACACTTGAGGATCCCGCTGGCTGCCTCAATTTACCCTAGAATAGCACCCCTCTTGATGAACCAGGCAAGGATGAAGACTTGTTCCTTTCCCCAGTGATCAGCCAGCACAAATCCTCCATACTTTCCACCCCTGATCCATGTCTCCCTACCCCTGAGTAGAAGTGAGAAGGAAATGGGGGCCTCTTAGTGATACACCCCAGTAGGCCCACCAGCTGGAAGATTTGCCTCCATGAGCTTGCCCCTC
|
Task1_train_5482
|
This is a variant in IHH (Indian hedgehog signaling molecule), located on Chromosome 2. Is this mutation a likely cause of disease or not?
|
Pathogenic; not provided
|
GGCCGCGAAGCAGGATGCCACCACATCCTCCACCACCAGTGTCCCATGCTTTGTGAGCGGGGCGTAGGCCCCGAGGGCCACGTGTGTAGAGACAGCTGCCACGCGGGCAGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCA
|
GGCCGCGAAGCAGGATGCCACCACATCCTCCACCACCAGTGTCCCATGCTTTGTGAGCGGGGCGTAGGCCCCGAGGGCCACGTGTGTAGAGACAGCTGCCACGCGGGCAGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGGCGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCA
|
Task1_train_5483
|
The following genetic variant occurs in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Classify its clinical effect — pathogenic or benign — and list any associated condition.
|
Pathogenic; Brachydactyly type A1
|
AGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCC
|
AGGCTGCAGGCCTGGCACCCCAGCCACCAGCACGTACTGGCCAGGCTGCACGTGGCTGGCAAATGTGGCCCGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGATGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCC
|
Task1_train_5484
|
Here is a genetic alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
CGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGG
|
CGGAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTTGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGG
|
Task1_train_5485
|
This alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2 may affect gene function. Does it lead to a disease or is it benign?
|
Pathogenic; Brachydactyly type A1
|
GAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGGTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCA
|
GAAGCGGGCTGCCGGCTCCGTGTGATTGTCAGCCGTAAAGAGCAGGTGAGCGGGTGTGAGTGCCAGGCGGCGTGGGGGGTCCTGAGTCTCGATGACCTGGAAGGCTCTCAGCCTGTGAGGCTCGCGGTCCAGGAAAATGAGCACATCGCTGAAGGTGGGGCTCCCATCCTCCCCCATGGCCAGCACACGGTCTCCCGGCCTCACGGCTGACAAGGCCACACGCGCCCCACTCTCCAGGCGTACCTGGGCTCCGGCAGGGAAGCAGCCGCCCGTCTTGGCTGCGGCCGAGTGCTCTGTGGGAGAAAGGGACATGAAGGTGTTACTGCTGTGCAGCTCAGCCTCCTGGTCACAACGACCCTCCCTTGGCCACCCCAGCCAGCCAGAGCTCCTCTTGCTCCCAGAGAGCCCCCGTCACCATATCCCAGCTCCTGCCCCCCACTTCCTATGCAGGCTTGAACCCATACTTCACTGCCCCCATCCCCTTACTCCAATGTGATCTTCTGTGACCCCCCTCCCCAGCCTAATACCTTGCCAAGGAGCATAGTGGGGCTCCAAGACCCAGTGGATGAGAAGGAAAGGGCTACCTCATGGAAGGGGGAGGTTGCTTAGCTCCTCCGAGGCCTAGATGTTCTGTTATTTCTCACCCCTTGCTCAGACACTTCCCAAAAATTGCCCTCTCAGGCTGACTCCCCAGGTTCTGTAACAGAGCTGGACCTTTGAATGTAGGGATGTGAGAGGAGCCCACCCAGTGGGGCAAAGGCAGACTCCTGGGCAGCCTCGGAGTGAATGTTTGGGTCAGGGGCAGGCCAGGGGCGAGGACACAGTCACCATCTTCAGTTCACATGCTGAGTCCCTGTGCAGGGACAGAACACTGCGGCATCAGCAGGTGAGCTGGAGAACAGTGTTTGGGGGTCAGGAGTAATGAATGGAAGTGGTTGTCGTGGGTCAATGTTTGCAGTGAAGGGTGGATGGGCCTTGCAGTAGACACAGTTGGCAGGGGAAGTATTGAGTGGAAGGTTCAGGGTGTGGTTGTGGGTCAGGGTAGGGTCAGGAATATCAAAATGTGGGCCTGGGCTCAGTGTGCGGGTCTATGAGAGTGCAACTATTACACGCTGCCAGTGTGAAAGGCTGAGCCGGCAGCCAGGTGGGGCTTGGCTGGGAGCCACACAGGAACCATTTGGAGCCTCCATGGCTGGGTTCAGTGTAGGTGACAGGGTGCTGACAAGACTTGAGGGAGGGGTGAGGCCCCAGTGCCTGCCAATTCTGATCAACAATGCGGCCAATCTGGGAAAATCCACTTTATTGAGTCCACTTTGTTTAGTCTGGCTCTCCTGGCTGGCTTTGCCCCAAAATGTCCAGCTTCAGGGCACAGGGGGAGAGGTTGGGGACGCCTGCGCCCCAGGGAGGGCTGACCTGCAGCTGGGTGGTGGGTTCTGAGCCTCTGGGCTCCTGGTCAGGCATGCAGGTGTCTGGGCATACCCCGGCTCCTGGCCCCACCACCCGCCTTGTTCTGTGCCAGGTGGGGTGGGGAGGCCTTGTCTGGCAGCCTGGCTTCCTCCATCTGTCCAGCTTGCTCTGTCTTGCACCTCCTGTGGCAGGCTCTGGACTGTGGGCCACCAGGTCAGCACCCAGCAGCCCTGGGACAGGGCCCTATCGCCCTAGGCTCCTACCATGACACTGCCAGGCATGGGATGAGCAGGCAGTCACGGTCAGGAGCAGCCTTGGAGAGCGCCGCTGATGTCCTCTTCCCCCGGATCCCTGCCTCCATCCCCGGGCGGGCTCTTCACCTTCTCGGCACTACTCCTCCTGCCCATGCCCTGCGGCCCCGGCCCCGGGCCCAGCCCCCCGGCGGCGGCTCACCGGACTTGACGGAGCAATGCACGTGGGCCTTTGACTCGTAATACACCCAGTCAAAGCCGGCCTCCACTGCCAAGCGCGCCAGCAGTCCATACTTATTGCGGTCGCGGTCTGATGTGGTGATGTCCACCGCGCGGCCCTCATAATGCAGGGACTCCTCTGAGTGGTGGCCGTCCTCGTCCCAGCCCTCGTTCACCCGCAGCTTCACACCGGGCCACTGGTTCATCACCGAGATAGCCAGCGAGTTCAGGCGGTCCTTGCAGCGCTGGGAGAGGAATGTGCGCGAAATCAACCAGAGCGAAATCAGCCGGAGGAGCCGGCCGAGGTGCAGGTGTAGGCGCAGCCTCGCCCAGAACTCTCCCGCCACACCCAAGGGAGCTGGAAGCCCGGGAGGGTGCTGTCCCTCTCCCTTAGGAACAGAGGGCCCTGAAGTGCTCCCTCCCTAGCATACAGCCGCCCCCGGGGATCTGGACCGCACGGCGGTATCACAAATCTGGAGGAGGCATGGAGGCAAGCGCCCTGGCGGCGCCTTCACTGGTAGGTGGAGGTCCCCTCTCTCCTGTGCTGTCTTCAGCTCCGGGTATCCATCCCTCCACAGACAGGACTACACCTTTCAGCGCCCGGTCCCTCTGTGCCTCCAAGGCAGGAGGGCCAGCCAGCGGCCGGGAGGGAGGAGTGGCAGCAGAGCCGACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCA
|
Task1_train_5486
|
This mutation occurs in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Does this change lead to a known medical condition, or is it benign?
|
Pathogenic; Brachydactyly type A1
|
ACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAG
|
ACTGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGTTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAG
|
Task1_train_5487
|
A mutation in IHH (Indian hedgehog signaling molecule), located on Chromosome 2, is being studied. Determine whether it’s pathogenic or benign, and specify the linked disease.
|
Pathogenic; Brachydactyly type A1A
|
TGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGG
|
TGCCTGCGGCCGGCCTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTTGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGG
|
Task1_train_5488
|
Here is a mutation in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Determine whether it’s benign or pathogenic. If the latter, what disease does it cause?
|
Pathogenic; Brachydactyly type A1
|
CTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGA
|
CTGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCCCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGA
|
Task1_train_5489
|
Here is a genetic alteration in IHH (Indian hedgehog signaling molecule) on Chromosome 2. Based on the data, is it a benign variant or a cause of disease?
|
Pathogenic; not provided
|
TGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGAC
|
TGCGAGGCGTGCAAGGCCCGAGGTGCCCAGTAGGTGTCACCGCAGCCTCAGGGCTGAGGCCTGGGGACGACAGGCTCTGGAGGCGCGGCAGGTGCAGAGCGTCTCGGTAGCTTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTTCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGAC
|
Task1_train_5490
|
Gene IHH (Indian hedgehog signaling molecule) on Chromosome 2 is altered by this variant. Does this mutation result in a disease or is it benign?
|
Pathogenic; not provided
|
TTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTC
|
TTCAGGGGGTGTGTTGGAGGGGAATCGCCGGCCTGCCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTTGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTC
|
Task1_train_5491
|
Given this variant in gene IHH (Indian hedgehog signaling molecule) on Chromosome 2, classify it as benign or pathogenic. Include the disorder it may cause if applicable.
|
Pathogenic; Acrocapitofemoral dysplasia
|
CCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCGGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTCACACTCTCTGGATCGGTTTTATAAACACAAATTCA
|
CCTGGATCCCTCGAGCACCACCGAGGATTCCCGCCGGGACCCTCTTATAATCTTAAACCGGCCCACAACCCCGCCAGAGATGACAGGGCCAGGGAACCAGAAACCGGCGGATTAGCGCCAGGGCCGCCCAATGGGGGGCCACATGCAACGTCTTCCTCTGCAAGGCGCAAAAGGGGCTGACAATCCCAGACCTCCAGGACCTCTGCACCGGTGCCCCGCCCCTATACCGTAGGAAGGAACTCCATAAACCAAGCTTCTGATCTCAGGGAGCCAGCTCCACCATCCTCCTCACGTGGAGTTGGGGTAGAGCCGCGCCCTGGGGGAAGGACCGAAGCGGTCATCCTTGGTTGCTGCCTCCTGGTGTGCCTGGGTCCTGAGAGCCCAAGAGACTGTGCAGCTGACTCTGAGAAGAAGCTGGGGCCAGGGCCTTGGTCTGAGGGGAAAGGCCCTTCCACCAGTCCTCGACTCTGAGACTCTGAGATTCGAGGCGCCAACAAGTGTGGGCAGCCCAAGTCTCAACCTACCCCCACCCTGCAGAGCCCGGGCCTCACAGACCCTTGGACTCAGCCTTCCTAGGAGCCAATAGCAGCTACAACCCAGGGCCTCGCAGGTCCTCGCTGGTGCACAGCCTGGCTGGGGGTGCTTACTGCCCAGGGAGGGAGCTCCGCTTGCTCCTTCGTAGACCCTGCCGTCAGGCTTCTAGCCCCGCACCTATGCCCGCCTGCAGCCCTGGTTCCCCGCCTCTCTCCCTCACTGCCACCGCCCCCTCTCGGGTCCAGAGCCCGGGCGTGCGCTGTCAATGATTGCCCAGCCCGTGGCCCGGATCCTTATCTGCATTCCTCGGCGCCCGGCCCGGCCCGGCCACCAGCCAACCTTCGGCCCCGACACTGGCCGGCCAGCCCCGGCGCCAGGGTGCATGCTGAGGGCCCTGAGTCTAGCTGCTCTTCCCAACGGATCTAGAAAGCCAGGGGCCTGCTTTCAGGGGGAAGCCTCGGGAGACCCCGAAGGAAGGGGGTGAAGGTCTCTCCCCTCGCGGACCTGGCTGCTGGGAAGGAATTTGCGCCTCTAAGCTTGGGTGGAGCGCGGGTCCTACTCCAGCATGCAGAGACTAGCGTCAGCCCTGGTCCCTGCCTCCCTCGGCATCTCAGCCCCTCTTTTCCACTCCTTCCCGTCCCCACCACCAAGCCCAGGAATCCCCTAAGCTCAGTCCCAGAGCCCGAAGGCCCCAATAACCCACCCTTCCACCGCAGTAGCACCCCTCAGCTCTCCGGACAGACACGTGGGCTCGCTGGGCAGGTTCCTTTTCCCACCTCCGCCTCCCGATTCAACTCTTCCTCGCTGTTCTTAACCCCAGACCCAGCCGGGACGCTGCTCCTGGAAGGGGCAGCCCGTAGAACCAAGAGCGCACAGGGAGGAAAGGCCGTGGTGACCCTACGCACCCAGAGATTCTTTGCCTCAGGGGTGCCGAAAAGTTTCAAAATGAAAGGGGCACAGCTGTGCAGAAGGTTAGGCCGGGAGGGACTGCGTGGGTCCTGGAGGCGCAGGAGGCAGCCGGGTAGAGGTACCTCCGGGTGCAGCGTCTGGCTGAGCTGCCAGTACTTTGGGGCAGAGGAGCCGCCGCCAACCTGCTGGGCTGTGGGGCTTGGCAGCGGGGAGCTCTTCTAGCAGTCTCCTCCGGGCTTGGGGATGCCGACACTCCTGCCTGGACCCCTGGCCAGCCCATCTTGGGCAGGAGGCAGCGGGGCTTGGCGAGAGGGGCAGGTGCCAGGGAGCGTGCCAGCCAGTCGAGAAAATGTGCCAGGGGGTGGGTAGGGCCGGGCAGGTGGCCGTGCTTCGGTGGCGGCGCGCTGGTAGGGCGGATCGCGCTCACCTGGGTCATGAGGCGGTCGGCGCCTGTGTTCTCCTCGTCCTTGAAGATGATGTCTGGATTGTAATTGGGGGTGAGCTCCTTGAAGCGCTCGGAGCTGCGAGCGATCTTGCCTTCATAGCGTCCGCTGGCGCCCAGGGTCTTCTCGGGCACATTGGGGCTGAACTGCTTGTAGGCGAGCAGCACGAGTTTGCGTGGCGGTCGCCGGCGGCTGCCCACCACCCGACCCGGCCCGCAGCCCCATGCCGCCGGCACCACCAGCAGCAGCAACAGGACCAGGCAGAAGTGCAGTCGGGGCCGGAGCCGGGCGGGAGACATGGCCGGGGAGCCCGGGGGAGCGGCGGGCGAGGTCTCCTGGTGGGCTGATGGGCAGGCGCGTCGACGGGAGCGCTGCGGGGGCTCAGGCGTCCGGGTGGCTCCGGGGGGCTCCAGGCGGGGGCGCCATGGGCGGCGTGGTGCGGCCAGGGCCGGCGGGACTCAAGTGCGGGGCGGGGGCCCAGGGCCCGAGCTGGTGGCGGCGCGCTGTCCCCCTCGGCGCCTCGACTCTGAGCTGCCGGGCTCGCCGGCCGCCAATAAATAGGCCGGCCCGTTTGTTTTGGCAACGCGGCGGCGGCGGGGGGCGGCGGGCGGCGGGGCTGCGGGCCGCCGGGCTGGGCTGGGCTGGCCGGGCCGGCGGGCTGCAGGGCCCCGCGGTTAGCACCCCGGCCCGGCGGTCAGGCGGCTCGGGCGGAGCGGGAGCTGCTGCCGTCTGCGGCGCAGCCCGGGGCCGAGTGAGAGGGGAAATGGAAGAGATCCGGGCTCGGGCCCCGCGCAGACCGCACCCTACCCATGTCCCTGCCTCCTGTGCGCTCGACAGCGAACCTGCAGCAAGGGCAGCACAGCCTCCTCCCCCTCGGGCGGGCGGCCCCGGCACTAGCCAGCCCTCGTCCCGCTCGCGCCTCCGCCGCGCGTCCGCCCGCCCGCTGCCCTCTGCGCCCCCTGCGCTGCCCGAGTTTGCCCTCCCCGCCTGGACGCGCCCCACCCCGCCCTGGCCTCGCCTACCGGCTCTTCGCGGCTCTGGGGTGCCCCGCCAGGCGCAAACCTCCCGGACAGGAGCTGCCACCCCCACGGAGACCGCAACCCACGGCGCGGCCGGACGCGAGGGGCGGGGGGCAGTGGCCGGACCGCACAGCCGCCTACGGTGTCCCCTGCGGGGAAGCAAACCCAAAAGGCAGGAGGCCACTCATAACCTGGTGCCCCACCCTGGCCCGGGCGACGCGCCCTTTCAGCTTGGTGGAGCTGGGTTCTGTATCAACCTGGTGCACATCCCACAGCCTGCCTGTCGGTGTCAAACTGGGGATGGGGAGTCTAGCCTTTTGAAGAGTCAAATAGGGGGTTTTAAGTTGGAAACACTGTTGAAAGTGACAATATGAAGTTGCAAAGGGATAGGTCAATATGCAGAGAAGGGTAGCTAAAATGGTGACGTCAACAGAATACCGAGGAACCCCGACTGACCATGTTAAAGAGGGGCAGCAAAGATCTCAGTAACGGGGGCTTGGTATGAATGCCAAAATGATGCAAAGCCACCGGAACTGCTAAATAATTACTTGGTTCTATATTACACATCTAAAAGAGCAGAGAATATGTAGAAACAACTAGGAACGTGAACATGTGTTATGTGTTTTTATATGACATTCGAGAAAGCTGAATGAATTAGGATCCCTTCTGCCAAAACAAGTAAAGGCAAGTGTGTTAAAAAGCAAACAAAAAACATCACCACCACAACACCAAACTATATGATTTGACTGTAATAGATTCTACAAATCCAATAAAGGTAGAAATGAAAAGATGAGAAATAAAAAGACTTAAAAATTCTCACTCAAATGCTATTAATACAATAGGTACCATTTTATTGGTACTTATATTCCTGAACATGGTAGTTATTAGATATTATTGTACTATGTCTTCTACTTGCATTATCTAATTTAAACTCGAAACGGCCAAAGGAGCTATTACTGTCCACATTTTACGAATGAAGATATTGAAGTTCAGAGAAGATGAACAACTTGCTAGTGGCTGAAAAGCAGGGATTGAAGCCCATGACTCTGGCCCAGCCCCAGTTTTTGCCCATGCAGGTGCATTGTCCCTCTGTGCAGGACCAGTCCACTCAACACCACTGGGTTCGGGGCTGAAGTAGCTGTTCACAGATTTACTCACACTCTCTGGATCGGTTTTATAAACACAAATTCA
|
Task1_train_5492
|
Given a variant located on Chromosome 2 and affecting NHEJ1 (non-homologous end joining factor 1), assess whether it is benign or pathogenic. Indicate the associated disease if pathogenic.
|
Pathogenic; Cernunnos-XLF deficiency
|
TTAAATTTATTAAATTTTATTTATGTATTTTTATTTGCAAGATGGAAAAGTTCACAAGAAATTAATTTAAAATAAACAAATGTGAGTATATGCTAAGTACTGTTGATAGACCTTAGAAGTTAATAAATGAATAAGTAATTCTCTCAGCACTCAGTTCTAGTTTTACTGGGCTCCAGATCAAAAATAAACATCAGGGCCGGGCGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCCGGGCGTGGTGGTGTGCGCCTGTAGTCCCAGCTACGGGGGGCGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGTAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGAGAGCGAGACTCCGTCTCAAAAAAAAACAAAAAAAAATAAAATTAAAATAAAAATAAGCATCAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTGTCTCTACTAAAAAATAGAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCAAACCTGGGCGACAGAGTGAAACTCCGTCTCAAAAAAAATAAATAAAATAAAATAAAATAAACATCAGCAAACAATTTCTCAAGAAGTCTTTCTATCCAGTCATCTATTGATGCCAAAGCATCACATCCCCTGTGGGAAACTAAAGAAGAGAGAAAAAAATGATGTCCTCTTGTCTTCAGATCCCTCTGCTAACAATCTATACTTTTAGGCTTCCCAAAGAAGACCCTGTCCCCTAAGTGCTACTGACTAAAACTGTGTCTGTTATTCCAGAAAACTAGTCTTTAACGTCCACTCTTAATTTCTAATAAAATCTCCTGGGAAATATAAAGCTATGAGTGAGTAGAGGATATTATCCCCCTAGTCTCTGAAAATGAGGCTTTGGACCAGACTAATCTGGGATTCAAATTCCAACTCATTTATTCATAAGCTGATGGCTTTGGACAAGTTATTTTCAATCTCAGTATTCTACTCTGAAAAACAAGGATAACAGTACTTATCCTGAAGGAGAGTTGTGAGGATTAAATGATGAGATAATGTTTAGAAAGGTATCTAACACTGGTACATATTCTATTCTGTTGCCAGAATAATCTTGATAAACCACGAATTGGATCATGTTAAATTCCTGTTTAAAGTTTTTCAGTGAATCCTGTTGCCTTTGAGATAAAATCCAAACTCATTAGAATCCTTCAAGATCCACTGCCTCCCTCATTTCTCATGCCTTCCTATCTACACAGCAGTCATGAAGTTCCCGAACTTGCTCCTCACTTACACATCTCTACATCTCTTGCCTACAATGATTTTTCTATTTATTTTCTCCTACTCATCTTCAAAACTTAGCTCAGTAACAGTCTCTTCAAAGAGGTTTTCTCCAATCCTCAACCATCCAGGGTCTACCTCAAAGAACCTATCATACTTTATCATAATTTCCTGTTTGTCTGTCTTCTCACTAGATTATGAACTCCAGGAAGAGGCTATATTGTTTTAGGTCTGGATAACCAACAATTAGCCCATTGTAGATGCTTTTAAAATGCTGAATAAATTAATTAATGAATAAAGACACTCAGTACTCTGCTCCTTTTGCAAGGAAAGGATTTAACAGTCAAGAATCCTTTTTGCCTTCTGTTTAGTCAAGGAAAGTTTTCTGATTGGAGAAGAATTTCAAACAAGGTTTGCAAAAAAAATAAAAGCACCTAAAGCTTCCTCTCAAAGCAACTGGCATCCCTCCCCCAACCCCACATTCGAATTACACTTACCAGGGAAGGACTAGCTAGCATGCAGTGGAAATTCCAATAGAAGGGGAGGCCAGAGAGCTCACTTCGCACCCGTAGAATCAGTGCATCTGCCACACAATCACAGGAGAAGGTAGCTTCGCTAGGGTGAGCAGCGTCCTTCAACAATGGGCGAAGGAGATTATCCAAATGACAGAGGAAAGCTGCAGGAGGAGCAGTGAGCCGCTTGTTCAGCTCCTAAAGAGAGAGCAGTGGTACAGAGTAAGGGTGCTAAAAGGAAACTAATTCCCTCATAAGTAACAGCAAAGGAAAGCCCTGGTTAACACGAAGGCAATGGACATGAGAGGAAGGGGAGAGAAGATAAAAACATCACAAGGGGAAAGAAGAAAACAAAAAGAAGAGAGTCACAAAGACCAATTGGCCTACTTCACAATTCTGCCTTGGGCAAGATTAAATCACAAAAGGCCTATCTAGATCAAATAATATATTCATTATCATGCATAGGGTAGGGAAACTAACTTTCTTTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACACAAAGATTCCAGGCAGAAGTACAGGTAGAAGTACAGGACATTAACTGGAATTGTCTCAACCCGATTCAACCTTCCTTGGGAAACTACAGGCCAGCAAGCTGGTTGATGTTCACATCCCCGACACAGCAGTACTTCTCCTCATACTTACCTTGGCTCGCTGGCTGACCACACTAGTGTCCACCTGTTCATGCCACACCTGTTGAAGATCTGAAACCAACAAGGCATAGCCCTGCTTGGTGATAAAAACCTTGGCCAAGAGGGAGTTCTCTGCAAGCTGTAGCCACGCCCATGGCTGCATCAACAGGCCTTGCTCCAGTTCTTCCATCTGCAAAAAAGTCCTCATTTAGTAAAGAGCCTCAGGGTCATGCTGGCCTAGGGAGGGCACCACCCAAACCAGTCTGTATCAACTAAAATCTCATGAAAATCCTCCCTGATAAAATAGAAGGCATGGATTTACGTTCTCCCAGTATACAACCAGCTGAGCACTGACTTTACTACCTCCTGGCCACTAAAAGTATATTTAAAATCTTGAGGGTTTTTTTTTTCCCATATTACATTCCTAGAGGACAGAAAATCTTTCTTCCATAGTGTTTAAACCTCAGCATATTGCTGTTAGTATTTCTGCTTTCTAATACTATAACATAACGTGGAAACCTAAACCCTTCTTGTTCCATCTTTATCACATTCCTAATAAATATGTCACTCCTATCCTTTCCCAGAACTAGAAGAGAAGGAATAGTTCTTGTCTTATAAAACATCATAAGTCATAGTGTCAGGGCCAGGAAATTCGAAGTATTTGATCATTATCTAAAAACAAAGTTTAGGAAGCTCTCAGGATTTTTTTAAAAATCCCTAAAACAGGTTCTTAATCTAGAGTCAATGCATGTGAATCCTCTAGAATTATATGAAAATGTTATGTGTACACGCATATATGCATGGGGAGGGGGAAGAGGTCTACAGCTATCATCAAACTCTCAGGGATCGATGACACAAAAAAGAGCTAAGAACCTGTGTCCAGGAGCAACAGAAAAGACCTAAATTTCATTTCAACAAAAACCAGAATGACTAGGAAATCATGAATACAAGGCAGAGCACATCACAGAGGTAAAGACTGAATTAACTTCCACTTAACTCATCCTCCACATTCCCACTCCAGTGCACTGCCACCAATGACAACATGCCCAGCCTGGAACCCCTGCAAAACAACTTTTCTATCTCAGCAGCTAAAGTAGTAGGCTTAACCTAGTAGACAATCAGAACTACGGCTGCTTGACAGAGAATGTGATTGTTTTTCCTGTGGGGGAGAAAAAAATATGTCAATTTCCTTCATTATTCCAGTCTACAAATATAAAATGAACAGAAGTACCAGGAAGGAAAAATTTAGAATGTAAATAATGAAATTCCTTATTAAGTCTGATTAACACAGTCATTTCCCCTAGCTTTTGAAGTGTGCCCTTGTGACTTGTGACATAACTTTATATATATATGCATATATATATGCATAT
|
TTAAATTTATTAAATTTTATTTATGTATTTTTATTTGCAAGATGGAAAAGTTCACAAGAAATTAATTTAAAATAAACAAATGTGAGTATATGCTAAGTACTGTTGATAGACCTTAGAAGTTAATAAATGAATAAGTAATTCTCTCAGCACTCAGTTCTAGTTTTACTGGGCTCCAGATCAAAAATAAACATCAGGGCCGGGCGCAGTGGCTCACGCCTCTAATCCCAGCACTTTGGGAGGCCGAGGTGAGCGGATCACGAGGTCAGGAAATCGAGACCATCCTGGCTAACACGATGAAACCCTGTCTCTACTAAAAAATACAACAAAAATTAGCCGGGCGTGGTGGTGTGCGCCTGTAGTCCCAGCTACGGGGGGCGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGTAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGGCGAGAGCGAGACTCCGTCTCAAAAAAAAACAAAAAAAAATAAAATTAAAATAAAAATAAGCATCAGGCCGGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACAGTGAAACCTGTCTCTACTAAAAAATAGAAAAAATTAGCCGGGCATGGTGGCAGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAGTGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATCACACCACTGCACTCAAACCTGGGCGACAGAGTGAAACTCCGTCTCAAAAAAAATAAATAAAATAAAATAAAATAAACATCAGCAAACAATTTCTCAAGAAGTCTTTCTATCCAGTCATCTATTGATGCCAAAGCATCACATCCCCTGTGGGAAACTAAAGAAGAGAGAAAAAAATGATGTCCTCTTGTCTTCAGATCCCTCTGCTAACAATCTATACTTTTAGGCTTCCCAAAGAAGACCCTGTCCCCTAAGTGCTACTGACTAAAACTGTGTCTGTTATTCCAGAAAACTAGTCTTTAACGTCCACTCTTAATTTCTAATAAAATCTCCTGGGAAATATAAAGCTATGAGTGAGTAGAGGATATTATCCCCCTAGTCTCTGAAAATGAGGCTTTGGACCAGACTAATCTGGGATTCAAATTCCAACTCATTTATTCATAAGCTGATGGCTTTGGACAAGTTATTTTCAATCTCAGTATTCTACTCTGAAAAACAAGGATAACAGTACTTATCCTGAAGGAGAGTTGTGAGGATTAAATGATGAGATAATGTTTAGAAAGGTATCTAACACTGGTACATATTCTATTCTGTTGCCAGAATAATCTTGATAAACCACGAATTGGATCATGTTAAATTCCTGTTTAAAGTTTTTCAGTGAATCCTGTTGCCTTTGAGATAAAATCCAAACTCATTAGAATCCTTCAAGATCCACTGCCTCCCTCATTTCTCATGCCTTCCTATCTACACAGCAGTCATGAAGTTCCCGAACTTGCTCCTCACTTACACATCTCTACATCTCTTGCCTACAATGATTTTTCTATTTATTTTCTCCTACTCATCTTCAAAACTTAGCTCAGTAACAGTCTCTTCAAAGAGGTTTTCTCCAATCCTCAACCATCCAGGGTCTACCTCAAAGAACCTATCATACTTTATCATAATTTCCTGTTTGTCTGTCTTCTCACTAGATTATGAACTCCAGGAAGAGGCTATATTGTTTTAGGTCTGGATAACCAACAATTAGCCCATTGTAGATGCTTTTAAAATGCTGAATAAATTAATTAATGAATAAAGACACTCAGTACTCTGCTCCTTTTGCAAGGAAAGGATTTAACAGTCAAGAATCCTTTTTGCCTTCTGTTTAGTCAAGGAAAGTTTTCTGATTGGAGAAGAATTTCAAACAAGGTTTGCAAAAAAAATAAAAGCACCTAAAGCTTCCTCTCAAAGCAACTGGCATCCCTCCCCCAACCCCACATTCGAATTACACTTACCAGGGAAGGACTAGCTAGCATGCGGTGGAAATTCCAATAGAAGGGGAGGCCAGAGAGCTCACTTCGCACCCGTAGAATCAGTGCATCTGCCACACAATCACAGGAGAAGGTAGCTTCGCTAGGGTGAGCAGCGTCCTTCAACAATGGGCGAAGGAGATTATCCAAATGACAGAGGAAAGCTGCAGGAGGAGCAGTGAGCCGCTTGTTCAGCTCCTAAAGAGAGAGCAGTGGTACAGAGTAAGGGTGCTAAAAGGAAACTAATTCCCTCATAAGTAACAGCAAAGGAAAGCCCTGGTTAACACGAAGGCAATGGACATGAGAGGAAGGGGAGAGAAGATAAAAACATCACAAGGGGAAAGAAGAAAACAAAAAGAAGAGAGTCACAAAGACCAATTGGCCTACTTCACAATTCTGCCTTGGGCAAGATTAAATCACAAAAGGCCTATCTAGATCAAATAATATATTCATTATCATGCATAGGGTAGGGAAACTAACTTTCTTTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACACAAAGATTCCAGGCAGAAGTACAGGTAGAAGTACAGGACATTAACTGGAATTGTCTCAACCCGATTCAACCTTCCTTGGGAAACTACAGGCCAGCAAGCTGGTTGATGTTCACATCCCCGACACAGCAGTACTTCTCCTCATACTTACCTTGGCTCGCTGGCTGACCACACTAGTGTCCACCTGTTCATGCCACACCTGTTGAAGATCTGAAACCAACAAGGCATAGCCCTGCTTGGTGATAAAAACCTTGGCCAAGAGGGAGTTCTCTGCAAGCTGTAGCCACGCCCATGGCTGCATCAACAGGCCTTGCTCCAGTTCTTCCATCTGCAAAAAAGTCCTCATTTAGTAAAGAGCCTCAGGGTCATGCTGGCCTAGGGAGGGCACCACCCAAACCAGTCTGTATCAACTAAAATCTCATGAAAATCCTCCCTGATAAAATAGAAGGCATGGATTTACGTTCTCCCAGTATACAACCAGCTGAGCACTGACTTTACTACCTCCTGGCCACTAAAAGTATATTTAAAATCTTGAGGGTTTTTTTTTTCCCATATTACATTCCTAGAGGACAGAAAATCTTTCTTCCATAGTGTTTAAACCTCAGCATATTGCTGTTAGTATTTCTGCTTTCTAATACTATAACATAACGTGGAAACCTAAACCCTTCTTGTTCCATCTTTATCACATTCCTAATAAATATGTCACTCCTATCCTTTCCCAGAACTAGAAGAGAAGGAATAGTTCTTGTCTTATAAAACATCATAAGTCATAGTGTCAGGGCCAGGAAATTCGAAGTATTTGATCATTATCTAAAAACAAAGTTTAGGAAGCTCTCAGGATTTTTTTAAAAATCCCTAAAACAGGTTCTTAATCTAGAGTCAATGCATGTGAATCCTCTAGAATTATATGAAAATGTTATGTGTACACGCATATATGCATGGGGAGGGGGAAGAGGTCTACAGCTATCATCAAACTCTCAGGGATCGATGACACAAAAAAGAGCTAAGAACCTGTGTCCAGGAGCAACAGAAAAGACCTAAATTTCATTTCAACAAAAACCAGAATGACTAGGAAATCATGAATACAAGGCAGAGCACATCACAGAGGTAAAGACTGAATTAACTTCCACTTAACTCATCCTCCACATTCCCACTCCAGTGCACTGCCACCAATGACAACATGCCCAGCCTGGAACCCCTGCAAAACAACTTTTCTATCTCAGCAGCTAAAGTAGTAGGCTTAACCTAGTAGACAATCAGAACTACGGCTGCTTGACAGAGAATGTGATTGTTTTTCCTGTGGGGGAGAAAAAAATATGTCAATTTCCTTCATTATTCCAGTCTACAAATATAAAATGAACAGAAGTACCAGGAAGGAAAAATTTAGAATGTAAATAATGAAATTCCTTATTAAGTCTGATTAACACAGTCATTTCCCCTAGCTTTTGAAGTGTGCCCTTGTGACTTGTGACATAACTTTATATATATATGCATATATATATGCATAT
|
Task1_train_5493
|
Gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Microphthalmia, isolated, with coloboma 7
|
TCCACTGGACCATGATTGCTCTGGGGAGGGGCACCCAACCAGCCGGGCAGGGTAATGGCAGCCAAGTCCTCCACTTGCTTTTGGGAAGCATTCTTTTGGAACTGACTCAAGCTCTGTTGTTATAAATTGGGGAGCTTCAACCCTACCCTGTCGGCTAGGGGAGTCTTTTAGCTTCCTTTTCAAGTGCATGTTTTTCCAGAACTCCCCTCCTGACTTCCTGGGTAAGGCTAGTTCTTGGAGACATGCCAAAAATCTCTCTTCCCTACAGACTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCCAGCCCAAGTCAAACCATGCCTTCCTGTACCTCTCCCAGCAGGTAGGCCTGCCCGTTTCCCTGCTCCCCCTTTTTCCCCTTCACACCTCTGACCTCCACCTCTTCAATGTCTGTCGTAGAGCCACAACCCGATCTCCGTCCTGGACAGCCCCTCCAGTGATTGCTTTGCAGAATGGCCTGGTGAGTTGGGCAGAGGTTGGATGGACAGAAACAAACACACAGAGAGTGAAGTCCAAGGACGCTGGTCTTCTTTCTCCCTTTGTAGAGTGAGGATGAAGCTCTGCAGCGGGCCCTGGAAATGTCCCTGGCAGAAACCAAACCCCAGGTTCCAAGGTACCTTACCCTCTTGTGAAAGAGAGCGCAAGCTGTGGGCAAGGGCTTGGTCTGGAGGCAGGTAGGTGGGACCACTCTGACACAATGCAAGATAATCGCTGGCAACTTGGTCTCAAAATTAAGATGAACTATATGATCTTTGACAAGTTATTTAACCCATGGAGCCTTCATTTCCTCTATAAAACGGGGACAATACTAATACCCACCTTGTAGTGTTGCTATGAAGATTGAGATAATCCTCAGCAGTGCTCAGCACCATGAGGCCCAACACACACAGATCAGATGTTCAAATTTCAGATCTTACCATCATCCAACTTAAACTGTTTCTCCCTCCCAGTTGTCAGGAGGAAGAAGACCTAGCTTTAGCACAAGCACTGTCAGCCAGTGAGGCAGAATACCAGCGGCAGCAGGTATGAGGCTGGGCTGAAGATATATGCTGCAGTGGAAGGGAGGAAGAAGTCAGGGATGGGGGTTCTTCCTAGTGGTGCAGAGTTTTGGAATGGTGGTTATCGTCTGGTTTTCAGTATGACTCCAGCCCATGCTGAGCTCTGAAATGAGGGCTGTCCCTCATTTCCTTGACGTTGCACTGTGTCTTCCCCTCCTTCCCCTCTCTTTGCTCTAGGCCCAGAGCCGCAGCTCGAAGCCGTCCAACTGCAGCCTGTGCTAGGGCCCTGGGCTTGGGGAGGGAGGTTCACCTGAGGAGGACTGTGGCCCTCACACCTCTAGGGTACACAGGGAGAGGAGGCCCGGAGCACCCTGGAGGGCAGAGACAAGCGGGAGTGATGTGGAGGTCGCCCTGGGAGCCTCTGGAAGGCCTTGCTAGTGCTCCAGCTGCATGGAAGAGAGCGGCTAGCAACTGTTCCCTGGTTGGGCCCTCAGTGGATGCTGGCCAGGCCCTACTCTTAGCCCCTTCATCATGTCATCTCCCTTATGCTGGAGCTGCCCCGATGTGGAGTGGGCAGGAAGGGGCCTGGAAAAAATAAAGGATCTTGGCAGTTGATAAAACGTACAAGTGGTGTGTTTCTCTCTCCTCTCTAACCTCAAACAGGAAAGCCGTGTCAAGAATGCTCATCTGACTTATGGGTAGAGGCCCGCTGCAGTACCCCATCCCACAAAGCCACAGTGATCCTCGCACAGTCCACATTTTTATTTCCCCAAAAGATGTTTTTCGGAAAGGTCCCTTTCCCTTACCATAGCTAGCACCATACCCCAAGACCAGGATGAAATAAGCCAGGGAAAGGAGACACATCTTATTCCCTTCTGGGTTAGTCTTTGAGAGGGAAGTGGCCAAACTTTTGTCACCGTTCCATGGTCTGAGGCTTAGTGTCTTCAGAGGTTTCTTCCTGTCCCTGCTGCAGCTGCCACATGTCAGCATACACCCCACCTCGGGACAACAGAGCCTCGTGTCTGGGGTGAGGAGAAAAGTGTGAGTCCTAACCATTAGTTTTACCCCGAGGGTCCTTGCCACCAGCCCACAGAGAGGACGGGATGGGAAGGGAGGTCCCCTCCAGAAGCCCCTGGGACTTCATGCCCCCTTTCCTGGAGCCCCCAATTCAGAAGACCTGTCCTTTTGATCTATGTGTCTCTTACCGTCCCCTCTCCACGATGCAGCCATCCTTGATGACGAGGATCTGGTCAGCATTGACCACAGTTGAGAGCCTGAGAAGTCAAAGATCAGTCGCCTACTACCCCACCCAAAGCGGGCCACATCACCAGCCGCCCCAGGCCTGTAGTCCTGTACCTGTGTGCCACTACGATGGTGGTGCGGTTGGCACAGACTTTGGCCAGAGAAGCCTGGATGGCCCTCTCATTAGATGTATCCAGCGCTGACGTTGCCTATAGAGAGGGTCCAGGTAAAACTGCTCCTGCCACTCAAAACCCTCAATGGAAGGAGGCAGGCTGCTGGCTGAGGCCTCAAGAATACACAAGAGCCTTGTTTGGGCTTGAGAACTGGAAAGTGTGTTTTGTGAGATTTGAATTCATGGTATCTGTTCTAGGTGGGGACAGTGCCCAGGAGGAACGGCTTGAGCATACACAAGGCAGGAAGGAGGGGAGGAGACCCAGGGCGCACCTCATCCAGCAGAATGATGCCCGGAGCCTTGAGGATGGTGCGGGCAATGGCGACGCGCTGCTTCTCCCCGCCGCTCAGCTTCAGTCCCCGCTCGCCCACCTGTGTCCTGTACCCTGTGGATATTACCCACCACACGTTTCTTACGAAACGGAGGGAACAGGGGTCAGGGATTAGCAGGACAACACCAGGAGGGGAGGGGACTCTCTGCAAAGGAATCTCTCACCTTCAGGGAAAGCCATAATGGCATCATGGATGCCTGCAGCCTGAGCAGCAGCCTCCACCTCATCATTCCCAGCTGTGACACGGCCGTAACGGATATTGTCGGCGATGGTGTCATTAAAGAGGACAGTGTCTTGGGGCACAACTCCAATGTGAGACCGGAGAGAGGCCTGGGTCACCTAGGGCCAAAAGACCACACACTCTGCCTTATGAGATACCCCCAAGGCCTGGGAGGCAGGGTGGGCTGGCCGGAAGCACGTGGGATAAGAGGCTGTGGTAATAATCCCACCATCACTGCCCCATATCCTAGCCGTGTGGGCAAATCACTCCTCTCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAG
|
TCCACTGGACCATGATTGCTCTGGGGAGGGGCACCCAACCAGCCGGGCAGGGTAATGGCAGCCAAGTCCTCCACTTGCTTTTGGGAAGCATTCTTTTGGAACTGACTCAAGCTCTGTTGTTATAAATTGGGGAGCTTCAACCCTACCCTGTCGGCTAGGGGAGTCTTTTAGCTTCCTTTTCAAGTGCATGTTTTTCCAGAACTCCCCTCCTGACTTCCTGGGTAAGGCTAGTTCTTGGAGACATGCCAAAAATCTCTCTTCCCTACAGACTTGCTGCCATCTCCAGAGCACAAGCTGTGGCTTCTACAAGCACTGTCCCCAGCCCAAGTCAAACCATGCCTTCCTGTACCTCTCCCAGCAGGTAGGCCTGCCCGTTTCCCTGCTCCCCCTTTTTCCCCTTCACACCTCTGACCTCCACCTCTTCAATGTCTGTCGTAGAGCCACAACCCGATCTCCGTCCTGGACAGCCCCTCCAGTGATTGCTTTGCAGAATGGCCTGGTGAGTTGGGCAGAGGTTGGATGGACAGAAACAAACACACAGAGAGTGAAGTCCAAGGACGCTGGTCTTCTTTCTCCCTTTGTAGAGTGAGGATGAAGCTCTGCAGCGGGCCCTGGAAATGTCCCTGGCAGAAACCAAACCCCAGGTTCCAAGGTACCTTACCCTCTTGTGAAAGAGAGCGCAAGCTGTGGGCAAGGGCTTGGTCTGGAGGCAGGTAGGTGGGACCACTCTGACACAATGCAAGATAATCGCTGGCAACTTGGTCTCAAAATTAAGATGAACTATATGATCTTTGACAAGTTATTTAACCCATGGAGCCTTCATTTCCTCTATAAAACGGGGACAATACTAATACCCACCTTGTAGTGTTGCTATGAAGATTGAGATAATCCTCAGCAGTGCTCAGCACCATGAGGCCCAACACACACAGATCAGATGTTCAAATTTCAGATCTTACCATCATCCAACTTAAACTGTTTCTCCCTCCCAGTTGTCAGGAGGAAGAAGACCTAGCTTTAGCACAAGCACTGTCAGCCAGTGAGGCAGAATACCAGCGGCAGCAGGTATGAGGCTGGGCTGAAGATATATGCTGCAGTGGAAGGGAGGAAGAAGTCAGGGATGGGGGTTCTTCCTAGTGGTGCAGAGTTTTGGAATGGTGGTTATCGTCTGGTTTTCAGTATGACTCCAGCCCATGCTGAGCTCTGAAATGAGGGCTGTCCCTCATTTCCTTGACGTTGCACTGTGTCTTCCCCTCCTTCCCCTCTCTTTGCTCTAGGCCCAGAGCCGCAGCTCGAAGCCGTCCAACTGCAGCCTGTGCTAGGGCCCTGGGCTTGGGGAGGGAGGTTCACCTGAGGAGGACTGTGGCCCTCACACCTCTAGGGTACACAGGGAGAGGAGGCCCGGAGCACCCTGGAGGGCAGAGACAAGCGGGAGTGATGTGGAGGTCGCCCTGGGAGCCTCTGGAAGGCCTTGCTAGTGCTCCAGCTGCATGGAAGAGAGCGGCTAGCAACTGTTCCCTGGTTGGGCCCTCAGTGGATGCTGGCCAGGCCCTACTCTTAGCCCCTTCATCATGTCATCTCCCTTATGCTGGAGCTGCCCCGATGTGGAGTGGGCAGGAAGGGGCCTGGAAAAAATAAAGGATCTTGGCAGTTGATAAAACGTACAAGTGGTGTGTTTCTCTCTCCTCTCTAACCTCAAACAGGAAAGCCGTGTCAAGAATGCTCATCTGACTTATGGGTAGAGGCCCGCTGCAGTACCCCATCCCACAAAGCCACAGTGATCCTCGCACAGTCCACATTTTTATTTCCCCAAAAGATGTTTTTCGGAAAGGTCCCTTTCCCTTACCATAGCTAGCACCATACCCCAAGACCAGGATGAAATAAGCCAGGGAAAGGAGACACATCTTATTCCCTTCTGGGTTAGTCTTTGAGAGGGAAGTGGCCAAACTTTTGTCACCGTTCCATGGTCTGAGGCTTAGTGTCTTCAGAGGTTTCTTCCTGTCCCTGCTGCAGCTGCCACATGTCAGCATACACCCCACCTCGGGACAACACAGCCTCGTGTCTGGGGTGAGGAGAAAAGTGTGAGTCCTAACCATTAGTTTTACCCCGAGGGTCCTTGCCACCAGCCCACAGAGAGGACGGGATGGGAAGGGAGGTCCCCTCCAGAAGCCCCTGGGACTTCATGCCCCCTTTCCTGGAGCCCCCAATTCAGAAGACCTGTCCTTTTGATCTATGTGTCTCTTACCGTCCCCTCTCCACGATGCAGCCATCCTTGATGACGAGGATCTGGTCAGCATTGACCACAGTTGAGAGCCTGAGAAGTCAAAGATCAGTCGCCTACTACCCCACCCAAAGCGGGCCACATCACCAGCCGCCCCAGGCCTGTAGTCCTGTACCTGTGTGCCACTACGATGGTGGTGCGGTTGGCACAGACTTTGGCCAGAGAAGCCTGGATGGCCCTCTCATTAGATGTATCCAGCGCTGACGTTGCCTATAGAGAGGGTCCAGGTAAAACTGCTCCTGCCACTCAAAACCCTCAATGGAAGGAGGCAGGCTGCTGGCTGAGGCCTCAAGAATACACAAGAGCCTTGTTTGGGCTTGAGAACTGGAAAGTGTGTTTTGTGAGATTTGAATTCATGGTATCTGTTCTAGGTGGGGACAGTGCCCAGGAGGAACGGCTTGAGCATACACAAGGCAGGAAGGAGGGGAGGAGACCCAGGGCGCACCTCATCCAGCAGAATGATGCCCGGAGCCTTGAGGATGGTGCGGGCAATGGCGACGCGCTGCTTCTCCCCGCCGCTCAGCTTCAGTCCCCGCTCGCCCACCTGTGTCCTGTACCCTGTGGATATTACCCACCACACGTTTCTTACGAAACGGAGGGAACAGGGGTCAGGGATTAGCAGGACAACACCAGGAGGGGAGGGGACTCTCTGCAAAGGAATCTCTCACCTTCAGGGAAAGCCATAATGGCATCATGGATGCCTGCAGCCTGAGCAGCAGCCTCCACCTCATCATTCCCAGCTGTGACACGGCCGTAACGGATATTGTCGGCGATGGTGTCATTAAAGAGGACAGTGTCTTGGGGCACAACTCCAATGTGAGACCGGAGAGAGGCCTGGGTCACCTAGGGCCAAAAGACCACACACTCTGCCTTATGAGATACCCCCAAGGCCTGGGAGGCAGGGTGGGCTGGCCGGAAGCACGTGGGATAAGAGGCTGTGGTAATAATCCCACCATCACTGCCCCATATCCTAGCCGTGTGGGCAAATCACTCCTCTCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAG
|
Task1_train_5494
|
This variant lies on Chromosome 2 and affects the gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
|
Pathogenic; Dyschromatosis universalis hereditaria 3
|
TCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTCCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTGGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTAT
|
TCTGTTTCCCCATCTTCTCTTCCTGCTTCACCAGATTGCTGCAGATGTTTTGTTTTGTTTTTGGATAGAGTCCACTCTGTCACCCAGGCTGGACTGCAGTGGCAAAATCTCGGCTTACTGCAGCCTTGACCTCCTGGCTCATGCAATCCTCCTACCTCAGCTTCCTGAGTAGCTGAGACCACAGGTGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTTCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTGGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTAT
|
Task1_train_5495
|
Here’s a variant in ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) located on Chromosome 2. What is the predicted biological effect — harmless or disease-causing?
|
Pathogenic; Dyschromatosis universalis hereditaria 3
|
TGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTCCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTGGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGG
|
TGCTTGAGACTACGTCAAGCTAATTTTTAATTTTTTGTTGAGATGGGGTTGCCAGGTATGTTGCCCAGGCTGGTCTCAAAATCCTGGACTCAAATGATCCTGCTGCCTTGACCTCCTAAAGTGTTGGGATTACAGGTGTGAGCCACCACACCTGGCTACAGAATATCGTTGTACCTTTTTTTTTTTTTTTTTTTTGTTTTGCTTTTTGTTTTGAGACAGGGCCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATAGCTCACTACAGCCTCCTGGTGGGACTACATGTGTGTGCCACCATGGCCAGCTAATTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACACCATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCAGCAAATTTTTTGTATTTTTCGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCCCAAAGTACTGGGATTACAGGTGTGAGCCACCGCGCCCAGCAATTTTTGTATTTTTTGTAGAGAGGGTGTTTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACTGCGCCCAGCCCTTTGTAGCTTTTATGGCACCATACAAATCCTTAACATGACTACTTTACTTGTGTGACTGTAGGTTATATCATGCTAGAATGGCCCTAGTTTTTTTGCAAGGGTGACATCTCCTCTCTCTGGACAGCCAGCCCTTATCATTCCTCCACACGTAGACCCCTAAACCACCGTCTTCTCCAGAGCAACCCTACCTGTGAAATGTCCTGCCCATCTATTCGGATGCAGCCAGAGCTGATGTCGTAGAAGCGAAACAGCAGGCGCAAAATTGTGCTCTTCCCTGCCCCAGATGGGCCCACCTGTTGCATTGGAAATGGGAAAAATCTCAGGCCCACTGGCTTTTTTTTTGAGACCGAATCTCACTCCGTCACCCAGGCTGCAGTGCAATGGCGCGATCTCAGCTCACTAGAACCTCTGCCTCCCAGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCTAGTAGTGGGATTATAGGCACCCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGATAGGGTTTCACCATGTTGGTCAGGCTGGTCTTGAACTCCTAACCTTAGGTGATCTGGCCACCTAAGCCTCCCAAAGTGCTGGGATTACAGGCATGTGCCACCGCAGCCGGCCGAGGCCCACTGGCTTTTGAGGTTCCCTCTCCAAGAGGTCACCAGTGTCCATGGAGGCTGCACCATTCAATCCGGTTGCCTATCGTGACTGGGCTCTCTGACTCCACAGCCTGGGTCACAAGCTACCATGGGCACTGAATGAGGGAAGCTTGAGGCATCTGGGCCAAGTGGCTGGGTCTCCTCTCACCAGGGCAAGTGTCTGTCCAGGCATCACAGTGAAAGACACGTCCTGCAGAGTCTCCCGCCTGCAAGGAAAGGTGGGGTTGCTCAGCAGGCACCTTCCATCACCAGAGCTGCTAGTAGGCCCTGCCCCTCCCCTGCCCAGGCTCTTTTCCAAAAGCAGGGATTCAGAGCACTGAGAAGCAGGAAGGCAGTGTGCAAATGAACGGAAAAGCAAAGGAAGCAAAAGGAAGGCCTCACCCATCGGCATAGCTGAAGTGCACGTTCTCAAACTCAATACGGCCCTTCTGAAAGCGAAGGGGCCCTGCTCCAGGAAGGTCCTTCACCTGGAAGGGCACCACCCATGTGTGCTGAGGTTCTCAGCTTTGTGTTTTCCAAGCACGAGAAACACCACACAGCTCCTCCCTCCCCAAACCCTACTCCTCTCCCTTCGCTCACTTCTGTCTCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAATGAAGTTGGTCTTGATCATCCTGCAAAAAGGTGCTGGTTAGGACTTCTCTGAGTAGCCAGGAAATAATAATGTGCCCTGGACAGGTGAGGGCCAGGGCTCAGATTACCTGTAGTAGGTGCCAAACCAATTGAGGGGCATGTACAGCTGGATAATGTAGGTGCCAAAGAGCACATAGTCCCCAACCTGTGGCAATCAAGGAAGCAGAGCATGTCACGGGGGGCCTGCAGGCCGCTCTTCTTGTGTCACCCTGCCCACTTCCTACCGAAGAGCCTGGTGACCAGACACAGGCCTCAGGCCCCCTTTTCCTTGTGCCCCACTCTCTCATCCAAGATCCTGCCTCACCTGTAGCTTCTGCTCAGTGACAAAGTATGCGCAAAGCAGGGAGCCGGCGAGGAGCCCGAGCCCAATCACCAGGTTCTGGGTCTGATTTAGTAAAACCAGTGAAGCGCTCGACTTCCACTCCAAACCCTGAGGGCAATAACACAGGAAGAGGAATGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGG
|
Task1_train_5496
|
A variant affecting Chromosome 2, within the gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)), has been observed. Determine if it's benign or associated with disease.
|
Pathogenic; Familial pseudohyperkalemia
|
TGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCCGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGAGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTT
|
TGTCCTATACACAATGGCCATCAGTGAGTCCAAACCTGGGCCCAGGCCCCTTCTACCCCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCTGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGAGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTT
|
Task1_train_5497
|
This variant affects gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) located on Chromosome 2. Evaluate its biological effect and specify any disease association.
|
Pathogenic; Dyschromatosis universalis hereditaria 3
|
CCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCCGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGAGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGG
|
CCAACACTCGACTATCACTCTTGGCCCTGAAAATTCTACCAGGCCAGGGCATTATTCTCCGGAGGCCTCAAACTAGCATCCTCACCTGATATTTGATGATGGCCTCTCGATAGCGTTCCACTTCGTAACTCTCGGCGTTGTAATACTTCACCTGATGAATTCAAACCAAATTTATTTGGCATGGGCACAGCACATGGCACTCGGGTCATTCCCCCCAACTCTCAATCCTCCTTCCTGAGTTCAAACATCACACACAAACATCACACCCCCAGCTCTCTGTCAGCCCCAGTGGTCCTGGTTACACTCCTCCACATCTCCACGCCTCACACCACTGCCACCGGGCCCTCTGTTACCGTCTCGAAGTTTAGCAGAGAGTCCACTGCTCGTGCCCGGGTAGCGTTCTCCTGTGTGTTCATAGCACGACGAAACTTGGTTCTCCACTCAGTGACCACAATGGTCAGGGCTGGAGAGTGACAGGATGGGGAGCAGAATAGGACATCATCCCCAAAAGCAGAGACCAAATGTCAATGTCCACTACCTGCCATGTACACACTAAGCCTATGCTCAAGCCCGGACACCCAGATTCCACAGGGAGGCACCTCTGCAGCCTGCACAAAGTCTCATGTGTAGAAAACGCTTTTGGTAAATGAAAGCAAGCTGCATCTTGTTACACAAACGAGGCTTCCTTGACCTGTGTCCACGGCTCAGACTTAACGTGACAAGAATGTCCTTCCCCAGCCCCTCAGCTAGGTTAAGGTTTGATTTGACAGAAGAGACCCGCCCATCACATGACGAGCACTAGGAGCCCATTCAAGTCCACCAATCCACAGCCTCCCATAGGTGGGTCACTTGAGTGGGGGCACAGCTCATGGCCAAGGGAGTCCCTGGATAGTTCAGGGAGACGGTGTCTCCCAGCAGCACTCACTGAGGTAAAGACTCATGCACAGGAACACAATGAGGCCAAACCAGGCGTTGAAGAACATGCTGAAGTAGATGATGCCAATGATGATGTCGGCCAGCGTGGGGATGACATTGAACACCAGGTAGCTAGGAGGGCAGGTCAAGTGAATAAGAAAGGTCTGGGGGCTTAGACCCAGCAACCCTGCCTCTAGGCATTTCAGGGTAGTGTTTTATTTTCAAGCAACAGACTGGAACCAGTCTTAATTAATTCTACCCTCAAGAGGTGGGTGGCTAAATCAACCATGCTCAAACTACAGAATTCTCTGTATCAATTACAATGAATGAGGGAGACCTTCAGGCATGGAAGAAAAATATATCTCCATAATGTTCTGTTAATAAGCAACTCTGAGAATGATGGCTATGTCACAATACCATTTGTTTTAGGAAAAACCTCCACAATGCCATATTAGTTCTGTGAGTCTGCATATATAATATGTATGTAAAAATGCAAAAAAGCAGAACCCAGCTGGGCACAATGGCTCACAACTGTAATCCCAGCACTTTGGAATGCTAGGTGGGCAGATCACATGATGCTAGGAGTTCCAGGCCAGCCTGGCCAACATGGTGAAACCCTGTTTCTACAAAAAATCTAATAATTAGCCAGGCATGCTGGTGCACATCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCAGAGATTATGCCACTGTACTCCAGCCTGGGTGACAGAGCGTGACCCTGTCTCAAAAAAAGAGCAGAACCCAACATACTAAACAGAGTGGGAAGCTCTGAAAAAGTAAGTGCAGCTCGAAAGAGATTTGCCCTCTGCCCGCATTACCTAAGTTATTAGGAGAGCATGTATACAATAATCCTATACTTTAAAAAACACCAAGGTGGGAGCGGCAGCTTCTCAGGCGGGGTCTGTTCTCTTCCTCCCACGGGCCCCTATCCCTGCTTCTCCGGCTCCACCCTCCCACATGCCCTTTCCACTGGGGCGGCACCTGAGCAGCCCTGTGACACTGGATGTGCCCCGATCCGCGATCCGCAGCACCTCCCCTGTGCGGCGCCCCAGGTGCCAGCGCAGTGAGGGCTCGTGCAGGTGGGAGAAGATGAGCAGCTCCACCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGG
|
Task1_train_5498
|
Gene ABCB6 (ATP binding cassette subfamily B member 6 (LAN blood group)) on Chromosome 2 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
|
Pathogenic; Dyschromatosis universalis hereditaria 3
|
CCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGGCCCAAGTCTGCCCTTGCCCACCACCACTGTGGGCTGTTCCAAGACACCAGGGCCAAGTTCTCAGCTGCAAACGCCACAGTCCAGAGGAGCAGGAGACCAGGGCTGTGCCTGAACTTGATCCAGATGCCCATTGCCAGACGCTGCCGTGCCTGGCTCCGCTCCACGACAAGCAGCCACAGGCCACAGGCGCCGGCCAGACTCTCCAGCACGGAGGCCAGAAGTAGATAGCTTGGCAGTGGGGCCCCCCGGGCAGTGCCCACCCGGCCAGCCAGGCCGGCCAGGGGCAGCGCCGCCTGAAGTGTGGCCAGAAGCAGCTGCAGCACGTAGGGAGAGATGCGAGGGCCGGCCCCCCAAGACAGCGAATCAGCACCAGCGGGCCGCTCCCGGCGTCTGCAGGGAAGAGCCAGCACCAAGGCCAGAGTCCCCAGAGCCATCCGCGTCGAGGGCACGAGCGTGAAGAAGAAGCAGGGACTCAGGCCATCCTGCATCCAGGCCGGACCCACGGGCCCTTCGGCCTCGCAGTAGTTGCCCACAGTCACCATGGCAATGCGTGGACGCCGGCCGAGGCTGCGGGCACTGCGGGACCGGAGGCCGGGACTGGTCACTCGGAGAGGGGCGCGGACATCCGGGTGCCTTGGCTCACGTAGCCGCTGGGCGCCAAGCTGCGGGGGTCCCGGGAAGGGACGCACGTGGACCAGGCCTCACCGCCCACTCCCCTAGCGCACGCGCCGCCGCCACGCACTCACGCAGGGCACGTACGCCGTCTCAGCACGGCCCCGCTGGCTCTGGGCCCGGGACCCTCCTGCCAACTGCAGGCCCACGGGAATGCTCGGTGTTGGACTCGCACCGCGCTCCACGGCTGTAGCCCCGCCCACAGCCCCTACCCACGGCTCCCATTGGCCAAATGTCTCCGAGGGGGGAGCGGGGGGAATGGTGCAGGCAACGAATGCAAATTAGAGAAGCAGAGCCGGCTTGGTCACGTGCCCAGGGCGGGAAATCTGACGACCAGGCCGAGCTGGAAACCTCCACGGAATCGTGGCTCGGGGCTGGAAACAGACCTCACGGAATCCTGGCTCGGGGCAGGACACAGACCTCCACGGAACTGTGGGTCGGAAGCTGCCCTTCCGCCAGCCGCCTTGCTCAGCGTATCTGAGCGACGGCCTAAACATACTTTCTTCTAGACCCCGGCAGAGTCCCCATCCCATTTCTCTTGTTCCCAGGATTCTAGCCGCGCGAGACAACAAGAAGTCTGGTCAAACTCCCTTTTTATTAAGGGTTATCAAGCTGTACACGGTCCCTACCCTGCTCCGCTCCGAGTTCGGGCAGCGCAATTCACCACTCTCCCAAAGCCGGACCACAGCTGGGTGAGGGGTGGGACAGAGAGTAGGAGCAGTCCCAGCATGCAGTGCAGCAGCCCAAAGCCTCGGGCGAGGCATCGCCCTTCATCCCCCTTCAGGGCACAGCGAGATGCGGGCCAGAGCTCTTTTGCTGGGACGCACACAGCCAAGGTCACCCTCCAGCCCGGTCTGTCCCATGTGCAGGTGATGGGGGGTACGATAAGCAGCAATGAGGGCCCAGGAAGACCTCAGTCTCCTGGGGGCCCATCCTAAAAGATGGCAAGGGCAGCAAAGTATTTCCATCCTGCTCCTACAATTTAGAAACCTTCTTTTTTAGTGTCAAAATATAGCGTTGAGGGGAGCTGGACGCTAGGGTCTTCACCCTAACGCAAAGCAAAAGCCGAACGGAACGGGAGCAAGCGAACAGAACAGGAGCAAGCAGCACACACAGGCCAGTGATGTGCAAGAAGCGGAGAGAGGTGAGCCGGCTGCAGCACTGGGCGAGAACTGCGGGTGAGGTAAGGGCCACAGCCTGACCTGCTCATCTATTGAGGGGGCTAGGGAAGGTTGCAGGGGTTGAGGGTCCAGGCCCAACCTCCCCACTCCACAGTTGGCACAGGTTCTCCCTGCTTGGCAGCTTCTATCGTGGGCAGCCCTCTGGGGACTTGCAGGGGTAGGTGTAAAGGTGGCAGTACTGGGGCTGGGCTGGGGGCCAGTTTCTAGCACCACACTCTGAGCCAAGGGG
|
CCCGCCGAGACGTGAACTGCTGCACCCGGATCCACAGGAAGGTGCGCAGGTTGCTCACGAAGCCTGCAGGGAGCCGGGGGACGCCTCAGTAGGGCCTGGGAGCTGAGGGACGTCAGCCCAGCACCAGGATGTGAAAGGTCTGAGAGTACATGGGGGCTGGGGAGGAATGCTGGGAGAGGCGGATGCTGAGGGAATGCCTGTGGGAGGGACCTATACCTAGCAGGGTGAGGGCGGAGTCTCTCATACCTGTACTGCCAGTGCCACCCCCCTGGAGGAACTTGAGGAAGACGTAACTGGTAACAGTCCAGGCCAGAGAGTTCCAAGGTGCCTTCTCAGTCAGCAAGTTCACTGTGGAGGAAACGAGTCAGAACCCACTTATGGCGCCCAGGACTCTCTTCAGGCAAAATGGCCCCAGGTACCAGCCACAGTCTCTTTCTGACCACCCAGCTCTGTCCCACCTCCCTAGGTAAGGACCATCCCAGCCACCAGGCTGATGAAGGACCAGCACACTGAGCTGGTGCTCCTCCTGCTCACCAATGTTCCTATAGAATATAGGCACCAACACATTGAGTGCCCGTTCCAAACCCATGAGCCCCAGGCAGATGAGCACCACCAGCTGCAGAGCTGGACTCCCTCGAGGCCACAGGTAGCCACTCAGGAGGCGGAGCTTCCTGCCAAAATCTCGCCAGGTAGACTGTTGGGCTGCTGACCGAACCTAGGATGGTGAAACACGTAGGAAGGGAGCTCAGAAATCAAGTAAGTGCACTAGCCAGAAACCCTTCAGGGAAAAACCTATGGGGTTACAGCTCCCAGGTATCTCAGACCCACAAGTGATCCTTGATGGGGTCAGAAAAACTAAGTTGCAAACTGAGATTTGGAAAAGAAGCATTTCATTTTGGGGGAAGGAATGATGACAGGGAATGAAATGAAGAGACTCCAGGATTCAGAAACTGAGGTGGGGTCTGGTGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGCAGGTGGGTCACCTGAGGTCAGGAGTTCAAGACTAGCCTGGCCAACATGGTGAAACCCCATCTCCACTAAAAATACAAAAATTAGCCGGGTACACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCACGAGAATTGTTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATCGCGCCACTACACTCCAGCCTGGGTGACGGAGCAAGATTCCGTCTTAAAAACAAAAAGAGGCCAGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCTGAGGCAGGCGGATCACGAGGTCAAGAGATCGAGACCATCCTGGCCAATGCTGTGAAACCCTGTCTCTACTAAAAATACAAAACTTAGCTGGGTGTGGTGTCATGCACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACGCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCCAAAAAAAAAAAGAAACTGAGGTGTACCTGGCTCCTTTCCACATCTTGGTCCTCTTCATGAACCTGCAATGTATAGGACTGGGGACGAAGTCCAGGGGCCCAGAGACCCAGGACAAACAGCCCTCCAGAGACCACATACCGCAGCACCCACAGGCTAAACTGAACCTAGAATGAAATATAAGTGGAGAGAGTATCATTGAGGATAAAATTTCATTGTATTACTACTTATAATAGGGCCGGGGACTGGTGTCATGAACACATTCAGCACTTACAGGCTTAAAAAAAAAAAAAAAAGCAAAACCACAGTGACTCAGCAAAGACACACCCCACCAGCTGGCTATCAGCTCCCGGCAGGACTCAGCCCCTCCCTTCTCCCTTTGCTTAGAGGCATCCTAAAGCCTGGAAGCAGTGTGACTGGACATGCAGTGCTTTCTCCCAAGCCCGGCCAGCAGAGGCTTCCCCCTTCCCACAGAGTCCCTCACCTGCTGGCCCAAGTCTGCCCTTGCCCACCACCACTGTGGGCCGTTCCAAGACACCAGGGCCAAGTTCTCAGCTGCAAACGCCACAGTCCAGAGGAGCAGGAGACCAGGGCTGTGCCTGAACTTGATCCAGATGCCCATTGCCAGACGCTGCCGTGCCTGGCTCCGCTCCACGACAAGCAGCCACAGGCCACAGGCGCCGGCCAGACTCTCCAGCACGGAGGCCAGAAGTAGATAGCTTGGCAGTGGGGCCCCCCGGGCAGTGCCCACCCGGCCAGCCAGGCCGGCCAGGGGCAGCGCCGCCTGAAGTGTGGCCAGAAGCAGCTGCAGCACGTAGGGAGAGATGCGAGGGCCGGCCCCCCAAGACAGCGAATCAGCACCAGCGGGCCGCTCCCGGCGTCTGCAGGGAAGAGCCAGCACCAAGGCCAGAGTCCCCAGAGCCATCCGCGTCGAGGGCACGAGCGTGAAGAAGAAGCAGGGACTCAGGCCATCCTGCATCCAGGCCGGACCCACGGGCCCTTCGGCCTCGCAGTAGTTGCCCACAGTCACCATGGCAATGCGTGGACGCCGGCCGAGGCTGCGGGCACTGCGGGACCGGAGGCCGGGACTGGTCACTCGGAGAGGGGCGCGGACATCCGGGTGCCTTGGCTCACGTAGCCGCTGGGCGCCAAGCTGCGGGGGTCCCGGGAAGGGACGCACGTGGACCAGGCCTCACCGCCCACTCCCCTAGCGCACGCGCCGCCGCCACGCACTCACGCAGGGCACGTACGCCGTCTCAGCACGGCCCCGCTGGCTCTGGGCCCGGGACCCTCCTGCCAACTGCAGGCCCACGGGAATGCTCGGTGTTGGACTCGCACCGCGCTCCACGGCTGTAGCCCCGCCCACAGCCCCTACCCACGGCTCCCATTGGCCAAATGTCTCCGAGGGGGGAGCGGGGGGAATGGTGCAGGCAACGAATGCAAATTAGAGAAGCAGAGCCGGCTTGGTCACGTGCCCAGGGCGGGAAATCTGACGACCAGGCCGAGCTGGAAACCTCCACGGAATCGTGGCTCGGGGCTGGAAACAGACCTCACGGAATCCTGGCTCGGGGCAGGACACAGACCTCCACGGAACTGTGGGTCGGAAGCTGCCCTTCCGCCAGCCGCCTTGCTCAGCGTATCTGAGCGACGGCCTAAACATACTTTCTTCTAGACCCCGGCAGAGTCCCCATCCCATTTCTCTTGTTCCCAGGATTCTAGCCGCGCGAGACAACAAGAAGTCTGGTCAAACTCCCTTTTTATTAAGGGTTATCAAGCTGTACACGGTCCCTACCCTGCTCCGCTCCGAGTTCGGGCAGCGCAATTCACCACTCTCCCAAAGCCGGACCACAGCTGGGTGAGGGGTGGGACAGAGAGTAGGAGCAGTCCCAGCATGCAGTGCAGCAGCCCAAAGCCTCGGGCGAGGCATCGCCCTTCATCCCCCTTCAGGGCACAGCGAGATGCGGGCCAGAGCTCTTTTGCTGGGACGCACACAGCCAAGGTCACCCTCCAGCCCGGTCTGTCCCATGTGCAGGTGATGGGGGGTACGATAAGCAGCAATGAGGGCCCAGGAAGACCTCAGTCTCCTGGGGGCCCATCCTAAAAGATGGCAAGGGCAGCAAAGTATTTCCATCCTGCTCCTACAATTTAGAAACCTTCTTTTTTAGTGTCAAAATATAGCGTTGAGGGGAGCTGGACGCTAGGGTCTTCACCCTAACGCAAAGCAAAAGCCGAACGGAACGGGAGCAAGCGAACAGAACAGGAGCAAGCAGCACACACAGGCCAGTGATGTGCAAGAAGCGGAGAGAGGTGAGCCGGCTGCAGCACTGGGCGAGAACTGCGGGTGAGGTAAGGGCCACAGCCTGACCTGCTCATCTATTGAGGGGGCTAGGGAAGGTTGCAGGGGTTGAGGGTCCAGGCCCAACCTCCCCACTCCACAGTTGGCACAGGTTCTCCCTGCTTGGCAGCTTCTATCGTGGGCAGCCCTCTGGGGACTTGCAGGGGTAGGTGTAAAGGTGGCAGTACTGGGGCTGGGCTGGGGGCCAGTTTCTAGCACCACACTCTGAGCCAAGGGG
|
Task1_train_5499
|
A mutation found in TUBA4A (tubulin alpha 4a) on Chromosome 2 may be clinically relevant. Is it pathogenic or benign, and if the former, which disease is implicated?
|
Pathogenic; Amyotrophic lateral sclerosis type 22
|
GTCAGCTGGAGGCGCTTCAGCCCCCAGCTCCTGGCCAACATACTACCCAAATCTGAAAAAGCAGCATGTTGAGAAGATGGCCCCTTGTGCCTTGGAAAGAGGTTCCCATCCCTCATTGGAATCACCACCCATTCCATCCAGGACTTCTCTTACACTTGGGGGTAGCGGGGTCAGGACAATCATCTCAGTCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTGTTGAGCTCACATAGTGTTCTGACTCCAAATCTGGGAGCAGGAGAATGTGTAAACAAGAATAAAGTGGAAGCAGGTTGGTGTAGATCTTAGTCTCAGTGTTCCTGGAGTGAGAGAAGAGGTGCAAGGGGCCCAAAGTCAGGTTGCCATTTCAGGCGAACTGCCTGGGAAGGAGGAATGGTGCAGAGTCGGCAATGGTGTGACTTCATTCTACAGGAGGTTGGTTAGCAGTGGACAGTTCTAGCTTGTCTTAGATCAAAACTTAAAGCTGCTTGGGCTCAAGCTGGCATCTGCCTGTGTCAAGAACTAGGGCCCCCTAAAAACACTCAACTAGTTCTTTCCTTCCTTCACTCCTGGGGTGAGTAGCTTAGTCAAAGCTGCCTAGCCGGTTTGCTAGGCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTTTTGGCCTGTGTCTCCCTGATCGTTCAAGCTCATACATGGTTAATGATTAATGAGGCAGTGTGGTGTGGCAGTATCCAGCTGCCACTTCCTGCCTACTCTGCTGAGTAAACAGGGGCCCTGTCTTAGCTGGGCTTCAAACCTGTTCCCTAGGGAAGGGCTCTGTTCCCTGAATCACCAGGGAGGAAAGGCAAGGGCAGGGTTGGCATCTCCTGCTCTTTTGTGATCCAAGCCTCCTCCCCCGAACCATGTCTACCCCACAGTATGACATCAGCATGGGGCCTGGGGCTCCTGTTAGCAAAGTTGAAGCTTTCCCCAGGGCCCTAGCAGGAGTCTCCCACTAGCTAGCACAGAGGCTGAGGCCAGAAAGAAATCACAAACAGAGGGGAGATGACCTGACTTTTAATGGCACAGCCCCAGCTCCAGCAAAGCAGCAAGACAGGAAGCTATGCAAAGCTGCTCAGAGGTGCAGTGGCACAAACAACTCTAGGAGATCGCCTGTGTTCCCTCCCATCCCCCAAGCTTATGACGTGGCTCCATGCCCAGGAACTCTGGGCCAGCCCAGCCCCACTCCCAAACCCTCATAATGCACAGAGGAGCCTGGGCCAAGCCTTGCTTCCAGAGTTGGTAAATGTAGAGGCAGCAGGAAGAACAGGGTAGCAGTCTAACTTTCAAAGACAGAAACCACTGGATTATACTCCTACTTGGAAAGGAGCTGAAGACTCATCCTTCAACAGTTTGTGCCTGGATTTTGGTCCTCATTTCCTCCCTATACTGAGTAACCCTAGGACTTCAATTTAAAGTCCCTGGGGTTATGCTTCCTGGGCCTGGCAAGAACCCCTTTGCAGGTCTCACCTTCAGCGATGGAAGGGATAAGGGTCATGAACAGCAAACAGAGCAGCAGCAGCATGAAGGGGAAGGCAGCAGAAGCTCAAGCACTCAGAGGGAACAAGAAACCGTGCAAGGAAACTGTTTATTTCGAAAGGATTTTGCAATAAACATAGTGAATAGGCTCCAGGCAGCTGCTTTATTCTTCTCCCTCATCCTCGTCCTCATAGGAGTCGATGCCCACCTCCTCATAATCCTTCTCCAGGGCAGCCATATCCTCACGGGCCTCGGAGAACTCACCCTCCTCCATGCCCTCACCCACATACCAGTGCACAAACGCCCTCTTGGCATACATCAGGTCGAACTTGTGGTCCAGGCGGGCCCAGGCCTCGGCGATGGCGGTCGTGTTGCTCAGCATGCACACGGCACGCTGCACCTTGGCCAGGTCACCCCCAGGCACCACAGTGGGAGGCTGGTAGTTGATACCAACCTTGAAGCCTGTGGGGCACCAGTCCACAAACTGAATGCTGCGCTTGGTCTTGATGGCGGCAATGGCAGCGTTGACATCCTTGGGCACCACATCTCCACGGTACAGCAGGCAGCAGGCCATGTACTTGCCGTGCCGGGGATCACACTTTACCATCTGGTTGGCAGGCTCAAAGCAGGCATTGGTGATCTCTGCCACCGACAGCTGCTCGTGGTATGCCTTTTCTGCAGAGATGACTGGTGCATAGGTGGCCAGGGGGAAGTGGATGCGAGGGTAGGGCACCAGGTTGGTCTGGAACTCTGTCAGGTCCACATTGAGGGCCCCGTCAAAGCGCAGAGAAGCTGTGATGGAGGAGACAATTTGGCTAATGAGGCGATTGAGGTTGGTGTAGGTTGGGCGCTCGATGTCTAGGTTGCGGCGGCAGATGTCATAGATTGCTTCGTTGTCCACCATGAAGGCACAGTCTGAGTGCTCCAGGGTGGTGTGGGTGGTCAGGATAGAGTTGTAGGGCTCGACCACGGCTGTAGACACCTGGGGGGCTGGGTAGATGGAGAATTCCAGCTTGGATTTCTTGCCATAGTCAACAGAGAGCCGCTCCATCAGGAGTGAGGTGAAGCCAGAGCCAGTGCCCCCACCAAAGCTGTGGAACACCAGGAAGCCCTGAAGTCCTGTGCACTGGTCAGACTGAAAGGCAAGAACGAGAAAGAACAGTTTAGGTAGGGGAGGGGCCTGAGGGACTCTATCACCTGGCTCCATAAAGCGTAAGATACATCAGCAGTCAGGGCAAATACTGAGGATGCCATAGCAGCACCACACTCGAGACCATGTATAGTTAGAGATGACCTCCTGAAAGGATCTGAAAAAAAATATTCCTGACCATTAGCACAGTCTCAAAAGTTCCCTCCCTCCCAAGACACACTCTCACCAGCTTGCGGATCCGATCCAGCACTGGGTCAATGATCTCCTTGCCAATGGTATAGTGACCACGGGCATAGTTGTTGGCAGCATCCTCTTTCCCAGTGATGAGCTGCTCTGGGTGGAAGAGCTGTCGGTATGGGCCATTTCGGATCTCATCTGGAAGGGCAAAAACCACAAAGCTATGCTCAGCAGGGACCTTCCTCCCCCAGGGTGGTAGCTGTGGCCAGATGCATGGAAGGACTCATCCTCCTGCCAGCCTGAGATACCAGAGTGTGAGAGAAACCCAGACCAGCTGCCCAGGCCAGTCTCAGATCAGCTTGCCTTCTGCAGCTTCAAGTACGGCTAGGAATTTTCAGGGCTAGGAATGCCTGGTCTAAATACCCTCTCTCTCCAGGGAGAAGCTTTGAGTCATGCTCCACCCCCTTCAATTTTGTCCCCACTTCCTCTCACCAATGACCGTAGGCTCCAGATCCACAAAAACTGCCCGGGGTACGTGTTTTCCAGCACCAGTTTCACAGAAGAAGGTGGTGAAGGAGTCGTCCCCTCCACCAATGGTCTTGTCACTGGGCATCTGCCCATCAGGCTGAATCCCATGTTCCAAGCAATAGAGCTCCCAGCAGGCATTGCCCATCTGGACACCTGCCTGCCCCACGTGGACTGAGATGCATTCACGCTGAGGGATAGAGAGAGGGGACACAGCATGAGCCCCACATCCACAAGTCCTCACCTTGCGAGTCTCTCTTCCACCCTATCATCTACCAGCTAGGATGACTCAGTTGGCAAGAGTGGAGGGTTGGGGCTGGGCAGAGGTGAGAAGAGAGTAGCAGCCTGCCCGGGCTCCCAGGTACAGGACTCCCCACCTGGAGGCACCCAGCAATGCAGGCCAACCTCTTAGCCCACTTCTCAGTGGGGAATCTGTCAAGTGAGCACTGTGGCTCCACATGACAAAAGGTTTCCTAGAGGTATGGGTTTACAGCTAGAGGCCCCCCCCCCACTTGATTAATTATTTGCTTTGAGTATGAACAGCTAGAATTCATAGAAC
|
GTCAGCTGGAGGCGCTTCAGCCCCCAGCTCCTGGCCAACATACTACCCAAATCTGAAAAAGCAGCATGTTGAGAAGATGGCCCCTTGTGCCTTGGAAAGAGGTTCCCATCCCTCATTGGAATCACCACCCATTCCATCCAGGACTTCTCTTACACTTGGGGGTAGCGGGGTCAGGACAATCATCTCAGTCCTGCATCTTTTCTTCTGCTTTCTTCCCTCCAAGAGCAAAACCTGGGCAAGGGGACTTACTGAGTGGGGGTGGGTGGGGGTTGGGAAAAGGGAAACTGGTGGGATATGGAACATGGCTCTGAGCAGGACTGTTGAGCTCACATAGTGTTCTGACTCCAAATCTGGGAGCAGGAGAATGTGTAAACAAGAATAAAGTGGAAGCAGGTTGGTGTAGATCTTAGTCTCAGTGTTCCTGGAGTGAGAGAAGAGGTGCAAGGGGCCCAAAGTCAGGTTGCCATTTCAGGCGAACTGCCTGGGAAGGAGGAATGGTGCAGAGTCGGCAATGGTGTGACTTCATTCTACAGGAGGTTGGTTAGCAGTGGACAGTTCTAGCTTGTCTTAGATCAAAACTTAAAGCTGCTTGGGCTCAAGCTGGCATCTGCCTGTGTCAAGAACTAGGGCCCCCTAAAAACACTCAACTAGTTCTTTCCTTCCTTCACTCCTGGGGTGAGTAGCTTAGTCAAAGCTGCCTAGCCGGTTTGCTAGGCAAGGGCCTCTGGGTGGAGACACCTGAGGAAGCTTTGAGACAGGTAGATTACAGGTCTCCCATCCTCAGCCTAGGGGCGAGGGGAGTGGAGGTGGCAGCGGCAGCTGTTTTGGCCTGTGTCTCCCTGATCGTTCAAGCTCATACATGGTTAATGATTAATGAGGCAGTGTGGTGTGGCAGTATCCAGCTGCCACTTCCTGCCTACTCTGCTGAGTAAACAGGGGCCCTGTCTTAGCTGGGCTTCAAACCTGTTCCCTAGGGAAGGGCTCTGTTCCCTGAATCACCAGGGAGGAAAGGCAAGGGCAGGGTTGGCATCTCCTGCTCTTTTGTGATCCAAGCCTCCTCCCCCGAACCATGTCTACCCCACAGTATGACATCAGCATGGGGCCTGGGGCTCCTGTTAGCAAAGTTGAAGCTTTCCCCAGGGCCCTAGCAGGAGTCTCCCACTAGCTAGCACAGAGGCTGAGGCCAGAAAGAAATCACAAACAGAGGGGAGATGACCTGACTTTTAATGGCACAGCCCCAGCTCCAGCAAAGCAGCAAGACAGGAAGCTATGCAAAGCTGCTCAGAGGTGCAGTGGCACAAACAACTCTAGGAGATCGCCTGTGTTCCCTCCCATCCCCCAAGCTTATGACGTGGCTCCATGCCCAGGAACTCTGGGCCAGCCCAGCCCCACTCCCAAACCCTCATAATGCACAGAGGAGCCTGGGCCAAGCCTTGCTTCCAGAGTTGGTAAATGTAGAGGCAGCAGGAAGAACAGGGTAGCAGTCTAACTTTCAAAGACAGAAACCACTGGATTATACTCCTACTTGGAAAGGAGCTGAAGACTCATCCTTCAACAGTTTGTGCCTGGATTTTGGTCCTCATTTCCTCCCTATACTGAGTAACCCTAGGACTTCAATTTAAAGTCCCTGGGGTTATGCTTCCTGGGCCTGGCAAGAACCCCTTTGCAGGTCTCACCTTCAGCGATGGAAGGGATAAGGGTCATGAACAGCAAACAGAGCAGCAGCAGCATGAAGGGGAAGGCAGCAGAAGCTCAAGCACTCAGAGGGAACAAGAAACCGTGCAAGGAAACTGTTTATTTCGAAAGGATTTTGCAATAAACATAGTGAATAGGCTCCAGGCAGCTGCTTTATTCTTCTCCCTCATCCTCGTCCTCATAGGAGTCGATGCCCACCTCCTCATAATCCTTCTCCAGGGCAGCCATATCCTCACGGGCCTCGGAGAACTCACCCTCCTCCATGCCCTCACCCACATACCAGTGCACAAACGCCCTCTTGGCATACATCAGGTCGAACTTGTGGTCCAGGCGGGCCCAGGCCTCGGCGATGGTGGTCGTGTTGCTCAGCATGCACACGGCACGCTGCACCTTGGCCAGGTCACCCCCAGGCACCACAGTGGGAGGCTGGTAGTTGATACCAACCTTGAAGCCTGTGGGGCACCAGTCCACAAACTGAATGCTGCGCTTGGTCTTGATGGCGGCAATGGCAGCGTTGACATCCTTGGGCACCACATCTCCACGGTACAGCAGGCAGCAGGCCATGTACTTGCCGTGCCGGGGATCACACTTTACCATCTGGTTGGCAGGCTCAAAGCAGGCATTGGTGATCTCTGCCACCGACAGCTGCTCGTGGTATGCCTTTTCTGCAGAGATGACTGGTGCATAGGTGGCCAGGGGGAAGTGGATGCGAGGGTAGGGCACCAGGTTGGTCTGGAACTCTGTCAGGTCCACATTGAGGGCCCCGTCAAAGCGCAGAGAAGCTGTGATGGAGGAGACAATTTGGCTAATGAGGCGATTGAGGTTGGTGTAGGTTGGGCGCTCGATGTCTAGGTTGCGGCGGCAGATGTCATAGATTGCTTCGTTGTCCACCATGAAGGCACAGTCTGAGTGCTCCAGGGTGGTGTGGGTGGTCAGGATAGAGTTGTAGGGCTCGACCACGGCTGTAGACACCTGGGGGGCTGGGTAGATGGAGAATTCCAGCTTGGATTTCTTGCCATAGTCAACAGAGAGCCGCTCCATCAGGAGTGAGGTGAAGCCAGAGCCAGTGCCCCCACCAAAGCTGTGGAACACCAGGAAGCCCTGAAGTCCTGTGCACTGGTCAGACTGAAAGGCAAGAACGAGAAAGAACAGTTTAGGTAGGGGAGGGGCCTGAGGGACTCTATCACCTGGCTCCATAAAGCGTAAGATACATCAGCAGTCAGGGCAAATACTGAGGATGCCATAGCAGCACCACACTCGAGACCATGTATAGTTAGAGATGACCTCCTGAAAGGATCTGAAAAAAAATATTCCTGACCATTAGCACAGTCTCAAAAGTTCCCTCCCTCCCAAGACACACTCTCACCAGCTTGCGGATCCGATCCAGCACTGGGTCAATGATCTCCTTGCCAATGGTATAGTGACCACGGGCATAGTTGTTGGCAGCATCCTCTTTCCCAGTGATGAGCTGCTCTGGGTGGAAGAGCTGTCGGTATGGGCCATTTCGGATCTCATCTGGAAGGGCAAAAACCACAAAGCTATGCTCAGCAGGGACCTTCCTCCCCCAGGGTGGTAGCTGTGGCCAGATGCATGGAAGGACTCATCCTCCTGCCAGCCTGAGATACCAGAGTGTGAGAGAAACCCAGACCAGCTGCCCAGGCCAGTCTCAGATCAGCTTGCCTTCTGCAGCTTCAAGTACGGCTAGGAATTTTCAGGGCTAGGAATGCCTGGTCTAAATACCCTCTCTCTCCAGGGAGAAGCTTTGAGTCATGCTCCACCCCCTTCAATTTTGTCCCCACTTCCTCTCACCAATGACCGTAGGCTCCAGATCCACAAAAACTGCCCGGGGTACGTGTTTTCCAGCACCAGTTTCACAGAAGAAGGTGGTGAAGGAGTCGTCCCCTCCACCAATGGTCTTGTCACTGGGCATCTGCCCATCAGGCTGAATCCCATGTTCCAAGCAATAGAGCTCCCAGCAGGCATTGCCCATCTGGACACCTGCCTGCCCCACGTGGACTGAGATGCATTCACGCTGAGGGATAGAGAGAGGGGACACAGCATGAGCCCCACATCCACAAGTCCTCACCTTGCGAGTCTCTCTTCCACCCTATCATCTACCAGCTAGGATGACTCAGTTGGCAAGAGTGGAGGGTTGGGGCTGGGCAGAGGTGAGAAGAGAGTAGCAGCCTGCCCGGGCTCCCAGGTACAGGACTCCCCACCTGGAGGCACCCAGCAATGCAGGCCAACCTCTTAGCCCACTTCTCAGTGGGGAATCTGTCAAGTGAGCACTGTGGCTCCACATGACAAAAGGTTTCCTAGAGGTATGGGTTTACAGCTAGAGGCCCCCCCCCCACTTGATTAATTATTTGCTTTGAGTATGAACAGCTAGAATTCATAGAAC
|
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.