Split (2)

train · 35.2k rows

question stringlengths 84 268	answer stringlengths 6 879	reference_sequence stringlengths 4.1k 4.1k	mutated_sequence stringlengths 4.1k 4.1k	cleaned_pathogenicity stringclasses 2 values	__index_level_0__ int64 67 343k
Is chromosome 22, position 41515902, gene ACO2 (aconitase 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic	CTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCTTTGGACCTTAGAGTCTGCTAGGCAGATGCTTGTCCTGAGGCAGAGGCCCTGGGGTTTCTGTAAGATTTCTGGGAGCACTGGTGGGTCCTGAGAGTTCACAGAGCCTGTCACACCTCTCATGTGTTCTTCCCCACATCCCCGGGTGGGGCACTAACTCCATCTGACTGATGAGCGGCAGAACCTCAGGTGAAGGCTCTTGCTGCAAAACAATAAATAAAAATGTTGCTTCCCGCAGGCACTATTCTGTGCCTCATGGACAGGATCTCATCCAGTCATCAGTGAACCAATGATGTGAGCACGATTGTTAGCTATTTCTTGATAGGGAAACTGAGCTCCGAGAGAAGTGACTTGTCCATGGTCCCACAACAACTAGTAGATGGTGGGGCCAGACCTCAGACCCCCCGATACAGGACGCCTGGCTCAGGGCTTGCCAAGCAGTGTCCTGCAGCTTCAGGGGGCCAGTGCCTCAGAGGTGCCTGGTGCCTGGGCCACACTTGGGTGTTGAGCCTATACAGCACCCAAGGTGTTGAGCACTTGGGTGTTGAGGTGTTGCTGCCTTTCTTACCAAATGTTTTGGGGGAAGTGCTCCCCACGGCTGGGAGGAGCGCCTCAGTGAAGGGAGTACTGTGAAATGGGACAGGTGATGAGGCAGGGTGGCATCGCGCCTTGAGCAAGTCACATGGGTTCTCAGAGCCACCTCCAGATGCTGAAGTGGACGAGGCATCACCTATTCTTTGCAGTTGAGGAAAAGTTCATAGCTTTGTGTACCCACTGGGGCCTCCCAGGACTTCTTCCTCAGGGGCCTTGTGGGGCTGGAGCCAGCTCCTGGAAGAACCACCAACCCCGATGAGAAGCCAGGTGGGGATGCTCCACACCCAGGATGAGGCCGGGCCTGGGCCCATCACAGGACAGTTTCTCTGGTTCTTGTCACATCCTGGGGTCATGGTGGTATGGGTGTTTGGTTACTGTGCTACAAATGAGGAAACTGAGGCATGGGGCAGCATTCAAAGGCCCAAGACATATAGCAGGAAATATCAGAGCTATTCAAGAGCCCAGGCCACCTGTCTCCCAAGGCTCTGGCTCTTCTTGGCCACCCTGGAGACGGCCTGGATTAAATGGGGCTGCTCCTACCAGTTCCATCCTGGGAGAGTGGCTGGACGTGGTTGGGAGGCCCCGGGTCAGTGGGGCCATTTTTTGGTATTCTCGGCTGAGGGCTTCTAAATATAACATCTTGGATTATTTTTCAGATTATTCTGGAAAACTATGCGTACCCTGGTGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCGGCCTTGGGGGCATCTGCATTGGAGTTGGGGGTGCCGATGCTGTGGATGTCATGGCTGGGATCCCCTGGGAGCTGAAGTGCCCCAAGGTGAGGGTGGGGAGGGACTCATTCTGGGCTGGCTGTGGGGTGGTGGTTGGTGGGGATGAACGGGAGACGGTGGGACCCAGGAGGGAAAAGGGAACAAGTTAGACTCGAATCTTCTGGGAGGGAGGTAGAGACCAATAAGCAGCAATGTGAATGGCAGCAGGGCCATCCTGACTTCGTGGCTGGCACAGGCACACACGGCCTCTCACAGCCGCCTCGCCCCCTCCTGTCCAGGTGATTGGCGTGAAGCTGACGGGCTCTCTCTCCGGTTGGTCCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACGGTGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGGTGTAGACTCCATCTCCTGCACTGGTGAGGAAGGCGGCCAGGCGACGTGGCCCCTACCCTGTGCTGGGCCTGATGGGTCTCCAGTTGGGAGTAGAAGCGGTGAATGGCCTTCACTTGAGAATCTGTCTGTTCCATTTGGGGACTTGGGATAGACAGAGGTAGAAGGAAAATTGGAGACAGCATTAGAGATTGTCTAGTCCACATCCTCATTAAACAGATGAAGAGATTGAGATACCTGTCGAGGCTGCCGGTGACTTCCTAACTGTGTGGCCACACACGGTTAGGAGCCAAGTCAGCTTCTGCTGCTGGGCCCAGGCCATAGCACTAGGCCACCTTGGGTGATCTAGACGAATCCAGAGAGGACAGAGGCAGTGGTGGGAATGGGCAGAGCCAGGGCTTCATTCATGAAGCAGCTGCAGGCCCACATCCTCCCTTCGCTGAAGTTCGAGCCTCACTCACTTCCCTTGGATTAGAGATCGGTGCCTGTCCGCCTCCAAGACCAGGTAGGAGCCAGCTGCTCCCTGCCTGTCACTCCTGGTGACCTGGCCTGGATGCCTGGTCCTCAGAAATCCAGGGAGATTTGTAACAGTCTAGACTTCCCAGGTGCCTGCCTGGGCTCCCTGGCAGCCCTGCAGAACTCTGGTTCCCCTGCAGTGATGGGGGCTCACTCCTGCCACGGGACTGCTCAGTCAGGACGTTGGTAACAGGCCCATACCTCCGTCCTAGTGGCTCCTGAGGCAGGTGGCCTGGTAGCAGCTGCAGTACCTGTGAGCCCCACCAGTTCTGTGACGCTTTGTGGTCCAGACAGTGTGTATCATTTCAGTTTTTGTTTTTGTTCTTGTTTTTTGAGACAGAGTCTAACTCTGTCGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCGGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATGATGCCTGGCTAATTTTTTTTGTATTTTTTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCATCACTGGAAAACTTGAGACACAGAAAAGTGTCTCCACCATGGTATGGCTGAAGGAGGGCAGGCCACCAGGCAGACAGACCAAGATCCGAATGTCAGCATCTACCTTTATGTGCTTTATGGCATGACCTTGAATCTCTCTGAGCCAGTTCCTCCCCTGCCAAAAAGAATAGCAACTGGGCAGTGTCTGGTCAGGTCAGCCTACAGTACGTGGTGCCTGTTCAATCTCTTGGGCGACAGTCAGGCCCCAAGCTCGCAGCTCAGTGTGTGGGGGCTGAATCTTCACCTGAGTCCTCTTCATTCTACCCAGCAGCCACCCTGAGCTGGGGCCCTGAGCTCTGATCCCCATGGCCTCCCCTCACCGGCCCAGGTTTTTACCCAGGGCCTCAAGGGATGAGTCGGCCCGCTGTCACCACATCTCTCTGAGTGGGAGGAGAAGCAATGCAGCTCCCTGGTGTGAAGATGCAGGTGGCCGCGTAGCAGGTGTGTGGGACCCTGGCCCGGCCACCAGCCAATGCCCGGGGCTCTGTTGCTCCACAGGCATGGCGACAATCTGCAACATGGGTGCAGAAATTGGGGCCACCACTTCCGTGTTCCCTTACAACCACAGGATGAAGAAGTACCTGAGCAAGACCGGCCGGGAAGGTGAGCTGGCAGGGGCAGGCCCGTGTGGGTGGAACAGTCACATGCCCGCTCCTCCCCAAGACAGAGCTATGCCTTTCCCTGTAGGGCAGGGGTTCTTAACCCATTGTCTCCAGACAGGCGTCCGAGGCTCTGAGAAAGCCCTGAAGAGGTGCAATATGTTTCTGAGTAGATTGTCTGGAGCTCTCTCCAGCTTCTCAAAGGGCCTGGCATCTGAGTTCAAGATAGCCCCACCTCAGGATGGGCATTTCATTTTCCCTGGAAGGTGGCTGAATGCCCGCCCTTCTCGGCCTGGTCCCTGCTGCCCCCTACAGGAAACTC	CTGTCACGGCCAGCGTCATCGTGACATCTTCTGCAGTCCTCATGTCTGCCTGACCTCTCCCCCTGGATGTGGACCACAAGTGTCTACACCGTGTGGACCACAAGTGTCTACACCGTGTAGACCACCCCGAATTCTGTGTGCCCAGCCTTCGTGGATCCAACTTTTACAAGCTTGAGGCTCTTTAGGGATGCACTAGTCTTAAATCCTTGTACGTGGCAGCATTGGCCAGTTCTTCGCAGCCAGGTCTTCCCTCTGCATCCCCAAGAGATGAGACCTTTGGACCTTAGAGTCTGCTAGGCAGATGCTTGTCCTGAGGCAGAGGCCCTGGGGTTTCTGTAAGATTTCTGGGAGCACTGGTGGGTCCTGAGAGTTCACAGAGCCTGTCACACCTCTCATGTGTTCTTCCCCACATCCCCGGGTGGGGCACTAACTCCATCTGACTGATGAGCGGCAGAACCTCAGGTGAAGGCTCTTGCTGCAAAACAATAAATAAAAATGTTGCTTCCCGCAGGCACTATTCTGTGCCTCATGGACAGGATCTCATCCAGTCATCAGTGAACCAATGATGTGAGCACGATTGTTAGCTATTTCTTGATAGGGAAACTGAGCTCCGAGAGAAGTGACTTGTCCATGGTCCCACAACAACTAGTAGATGGTGGGGCCAGACCTCAGACCCCCCGATACAGGACGCCTGGCTCAGGGCTTGCCAAGCAGTGTCCTGCAGCTTCAGGGGGCCAGTGCCTCAGAGGTGCCTGGTGCCTGGGCCACACTTGGGTGTTGAGCCTATACAGCACCCAAGGTGTTGAGCACTTGGGTGTTGAGGTGTTGCTGCCTTTCTTACCAAATGTTTTGGGGGAAGTGCTCCCCACGGCTGGGAGGAGCGCCTCAGTGAAGGGAGTACTGTGAAATGGGACAGGTGATGAGGCAGGGTGGCATCGCGCCTTGAGCAAGTCACATGGGTTCTCAGAGCCACCTCCAGATGCTGAAGTGGACGAGGCATCACCTATTCTTTGCAGTTGAGGAAAAGTTCATAGCTTTGTGTACCCACTGGGGCCTCCCAGGACTTCTTCCTCAGGGGCCTTGTGGGGCTGGAGCCAGCTCCTGGAAGAACCACCAACCCCGATGAGAAGCCAGGTGGGGATGCTCCACACCCAGGATGAGGCCGGGCCTGGGCCCATCACAGGACAGTTTCTCTGGTTCTTGTCACATCCTGGGGTCATGGTGGTATGGGTGTTTGGTTACTGTGCTACAAATGAGGAAACTGAGGCATGGGGCAGCATTCAAAGGCCCAAGACATATAGCAGGAAATATCAGAGCTATTCAAGAGCCCAGGCCACCTGTCTCCCAAGGCTCTGGCTCTTCTTGGCCACCCTGGAGACGGCCTGGATTAAATGGGGCTGCTCCTACCAGTTCCATCCTGGGAGAGTGGCTGGACGTGGTTGGGAGGCCCCGGGTCAGTGGGGCCATTTTTTGGTATTCTCGGCTGAGGGCTTCTAAATATAACATCTTGGATTATTTTTCAGATTATTCTGGAAAACTATGCGTACCCTGGTGTTCTTCTGATTGGCACTGACTCCCACACCCCCAATGGTGGCGGCCTTGGGGGCATCTGCATTGGAGTTGGGGGTGCCGATGCTGTGGATGTCATGGCTGGGATCCCCTGGGAGCTGAAGTGCCCCAAGGTGAGGGTGGGGAGGGACTCATTCTGGGCTGGCTGTGGGGTGGTGGTTGGTGGGGATGAACGGGAGACGGTGGGACCCAGGAGGGAAAAGGGAACAAGTTAGACTCGAATCTTCTGGGAGGGAGGTAGAGACCAATAAGCAGCAATGTGAATGGCAGCAGGGCCATCCTGACTTCGTGGCTGGCACAGGCACACACGGCCTCTCACAGCCGCCTCGCCCCCTCCTGTCCAGGTGATTGGCGTGAAGCTGACGGGCTCTCTCTCCGGTTGGTCCTCACCCAAAGATGTGATCCTGAAGGTGGCAGGCATCCTCACGGTGAAAGGTGGCACAGGTGCAATCGTGGAATACCACGGGCCTGGTGTAGACTCCCATCTCCTGCACTGGTGAGGAAGGCGGCCAGGCGACGTGGCCCCTACCCTGTGCTGGGCCTGATGGGTCTCCAGTTGGGAGTAGAAGCGGTGAATGGCCTTCACTTGAGAATCTGTCTGTTCCATTTGGGGACTTGGGATAGACAGAGGTAGAAGGAAAATTGGAGACAGCATTAGAGATTGTCTAGTCCACATCCTCATTAAACAGATGAAGAGATTGAGATACCTGTCGAGGCTGCCGGTGACTTCCTAACTGTGTGGCCACACACGGTTAGGAGCCAAGTCAGCTTCTGCTGCTGGGCCCAGGCCATAGCACTAGGCCACCTTGGGTGATCTAGACGAATCCAGAGAGGACAGAGGCAGTGGTGGGAATGGGCAGAGCCAGGGCTTCATTCATGAAGCAGCTGCAGGCCCACATCCTCCCTTCGCTGAAGTTCGAGCCTCACTCACTTCCCTTGGATTAGAGATCGGTGCCTGTCCGCCTCCAAGACCAGGTAGGAGCCAGCTGCTCCCTGCCTGTCACTCCTGGTGACCTGGCCTGGATGCCTGGTCCTCAGAAATCCAGGGAGATTTGTAACAGTCTAGACTTCCCAGGTGCCTGCCTGGGCTCCCTGGCAGCCCTGCAGAACTCTGGTTCCCCTGCAGTGATGGGGGCTCACTCCTGCCACGGGACTGCTCAGTCAGGACGTTGGTAACAGGCCCATACCTCCGTCCTAGTGGCTCCTGAGGCAGGTGGCCTGGTAGCAGCTGCAGTACCTGTGAGCCCCACCAGTTCTGTGACGCTTTGTGGTCCAGACAGTGTGTATCATTTCAGTTTTTGTTTTTGTTCTTGTTTTTTGAGACAGAGTCTAACTCTGTCGCCCAGGCTGGAATGCAGTGGTGCAATCTCGGCTCACTACAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCGGTCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCACCATGATGCCTGGCTAATTTTTTTTGTATTTTTTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCATCACTGGAAAACTTGAGACACAGAAAAGTGTCTCCACCATGGTATGGCTGAAGGAGGGCAGGCCACCAGGCAGACAGACCAAGATCCGAATGTCAGCATCTACCTTTATGTGCTTTATGGCATGACCTTGAATCTCTCTGAGCCAGTTCCTCCCCTGCCAAAAAGAATAGCAACTGGGCAGTGTCTGGTCAGGTCAGCCTACAGTACGTGGTGCCTGTTCAATCTCTTGGGCGACAGTCAGGCCCCAAGCTCGCAGCTCAGTGTGTGGGGGCTGAATCTTCACCTGAGTCCTCTTCATTCTACCCAGCAGCCACCCTGAGCTGGGGCCCTGAGCTCTGATCCCCATGGCCTCCCCTCACCGGCCCAGGTTTTTACCCAGGGCCTCAAGGGATGAGTCGGCCCGCTGTCACCACATCTCTCTGAGTGGGAGGAGAAGCAATGCAGCTCCCTGGTGTGAAGATGCAGGTGGCCGCGTAGCAGGTGTGTGGGACCCTGGCCCGGCCACCAGCCAATGCCCGGGGCTCTGTTGCTCCACAGGCATGGCGACAATCTGCAACATGGGTGCAGAAATTGGGGCCACCACTTCCGTGTTCCCTTACAACCACAGGATGAAGAAGTACCTGAGCAAGACCGGCCGGGAAGGTGAGCTGGCAGGGGCAGGCCCGTGTGGGTGGAACAGTCACATGCCCGCTCCTCCCCAAGACAGAGCTATGCCTTTCCCTGTAGGGCAGGGGTTCTTAACCCATTGTCTCCAGACAGGCGTCCGAGGCTCTGAGAAAGCCCTGAAGAGGTGCAATATGTTTCTGAGTAGATTGTCTGGAGCTCTCTCCAGCTTCTCAAAGGGCCTGGCATCTGAGTTCAAGATAGCCCCACCTCAGGATGGGCATTTCATTTTCCCTGGAAGGTGGCTGAATGCCCGCCCTTCTCGGCCTGGTCCCTGCTGCCCCCTACAGGAAACT	pathogenic	327,656
Evaluate if the mutation on chromosome 22 at position 41527918 in ACO2 is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Inborn_genetic_diseases']	GCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACAGGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGGCCATCAGGCACAGACTGGCCTAGGATTTGGTTTGCCTGCTGACCTCTTAGGTCCCCAGGCAGTGCCCTGTCTCCCTGACCCCCCTGCGGGGCCAAGGGCACACAGTACCCACCACTTCCACCCACACCCACCTTCTCCTTGCAGCCCCTGAAGTGCATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCGTCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGGGGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTTGATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGGAAAACAAGAATCCAAAACCAGTGACTGTTCTGTGAGTGATTGGTGTCTGTGCCGTTTGTTGTCAAGTCCAGGGTCCAGGAAGGGTCTTTTCAGTCAAGGTCAGTGGAGGCCCAACAGCCACAGCCACAGATGGATCCATCACTGCAGTGAAGGAGGAGCAGGGCCTAGATGGTGGAGGAGCGGGGCAAGCTGGTGGGCACTCCTGGCCTTGCCTCACTGTCCAGCTCGAGACACTATCTCCTTAGCATCGGCCTCAGCTGCTGTTGTCTTCACAGCCGGCCATACCACCTTCCCGCAGGCTGGTAGGGTCCACTGTCCAGCCCCAGGGCTAGTTGCTGGTCCACCAGGAGAGAAGGCCCAGGCCTGGCTCACTGATGGATCCCTGCCAGGGATAAAGAACACGCACATTTCACTGACATGCTGGCTTGAACCAACCTGGACAGGAGGTGAAGGGAGCCCAGCAGGCCCAGCACAGGCAAAGAAGAGGCGGGGCACACGGCAGCCAAGAGGCTCTGGAGAGATGTGGGAGCCACAGCAGTGCTCCCAACGGGCACGCAGCACGCAGGGCGCAGACCCTTCTCCAGGGACTCCAGGCCCTGATAGGGTCAGGGACCCTTCCTCACCCTTAGGCCTGCCCTCCAGGGCCACCTAGGTTCTAATCGTGGCAGGAAGGCTGAGCAAACACAAGGCCCATGCTCCAGACGCATCCAACAGGGAGCAGCCTTGAAAGCCACTCTTCCCCGGAGCCCTCCCTTTTATTTCACTGCTGCAATGCTGCTCCTACAGGGAGCCCTACCTTTTTTTTGTTGTTTTTTTTTTTTGAGACAGTCTCGCACTGTCACCCGGGCTGGAGTGGAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCC	GCACCCCTGTGACAGAAGAGACTAATCAGTCATCAGCCAGGACCCAGGCATGTCCTGGGCTCCTGTGTCCAGCATGAGGTCTGTGGCTGATCTTGCAGCTGAGGCCTGAAGGGTGAGCGAACATTGACCTGTCCCAACTTTGGGCGGCCTCTGCCCCATAAGGGAGACTGAGCAGCCAGAGGCCTTTGAGGGGATGAAGGCCTGGCCTGAGCCCATGTGGCCTTAGGGTGGAAGCACCAGGACCACAGAACACGTGTCTGAAGACTTGCCTGCCTCTCACCCCTCTGTCACCCCTCCTGGGCCCCGGGGCCTGCTGCCTGCCTCTGGAGGGCTTGTCATCCACCCCTCCAGGGCCATGCCCTGACCTCTGTCCTCTCTACTTACCACCCAAGGTCAAAGGGAAGTGTACCACTGACCACATCTCAGCTGCTGGCCCCTGGCTCAAGTTCCGTGGGCACTTGGATAACATCTCCAACAACCTGCTCATTGGTGCCATCAACATTGAAAACGGCAAGGCCAACTCCGTGCGCAATGCCGTCACTCAGGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGGTGGGTCAGAGTTGATAGGGGCAATGCCAGTGGTCACTCCTGAAGGGGCCTGCAAGGCAGGTGCAGGGAGGACATTAGGGGAGTGGAAACTGGGAAGGAGGCCGACCAAGCCCAAAGGGGACTGCTGTGGAAGGGAGGAGAGGCCTGCAGCCCCTCCCTGTGGCTGAGAAGGCATGAGGCCCAGGTCCGGTGGTACAGCCGGGTCCCTGCACCAGGAGGAGTTAGTGAGAGATATCTTAGGATATCTGGCCCTAGACAAAGACAAGGAAGGGGGCCGACTCAGGAAGTCAGAGGCCAAAAGCTCAGAGAGGGGGCTACACGGGGCCTCACAGTGAGCAGGCAGAGAGGGTCTGAGGTGATTGGACTTTTTCTGCTTTGAGAAACAAACAGAACCAGGGCTGAACCCAAGTCCTGGCCCAGCCGGGTGAAAGGACTCTGGCACCCCCTGGTGGCTGGGTGGGGCAGAGGGTGCTCCCAGGAAGGGGGCGCCTTGAGCTTCACAGATGCATCTTGTGTGGGGCCCGGAGGCCGTCCCTGTCTCACCCAACCTCCCTCCACACACACCTGCCTCTGCCAAGCACCAATGGGTGGCTTCTGTCTTCTTTGCCACTGCAAACAACCACGTGCCTCTGTCCCCTCGGGGCCTCGTTTGGGTCTCATTCACGCAGGCTTCACTTGCCCTTAGGCAGCAGGCGAGGAAGGGCCCCTCCAGCCCCTTTACCGGGAGCCTCAGGATGCCCAGGCGCCAGGTGGGTGAGGCCAGGCAGGTAGGGCCAGACAGGTGAGGACGGTGCCCTCCTCTGCCTTATAACCTTACCCCCGCTTGCCTGACAGAAACATGGCATCAGGTGGGTGGTGATCGGAGACGAGAACTACGGCGAGGGCTCGAGCCGGGAGCATGCAGCTCTGGAGCCTCGCCACCTTGGGGGCCGGGCCATCATCACCAAGAGCTTTGCCAGGATCCACGGTGAGCTGGAGTCTGTACCCAGGCCATCCTCATCCCATCCCTAGTGATCAAGGTCACTCTCCCTGCCCGTGGCTGAGTTGGGCCTGGTTCTAGGCTGTGTCCACTGCAGCCCACAGGCCCGTCAGCCTCTTGCCCCTTCTTAGGCTCACACAGTGCACATCCGACGCTCAGCTTCCCGGCTTCCCGCAGGCCCTGCTTCCAGGCTTGTAGATCTGAGCCGCTGAGATCTAGGACATGTGCCAGGGGGTTCTTTCTGATCATGAATGTGCAGCAGGAAGGCCTCGCAGACCTCAGCACCAGCGCACACTTGCTAGGGGCACCCCTAGTGAAAGGGAGCAGACCAGGGCCCCATAGTCACTGCCCGGGCATTGTCCCAGGCAGCAGGATTAGGGGCATCTCCCAGAGCCCCAGATGGGTTCAGAAAATGAAGCTCTCCAGGCTAGTCAGGCCCCCGATGACCGAATGCCGCCTGCTTTCCAGAGACCAACCTGAAGAAACGGCCTGCTGCCTCTGACCTTCGCTGACCCGGCTGACTACAACAAGATTCACCCTGTGGACAAGCTGACCATTCAGGGCCTGAAGGACTTCACCCCTGGCAAGGTTAGGGGCCCGGGTCCCCCTGAGGTGGTGGGGTGAGGGGCAGCCACCTTGTTTCCCCTCCTGCACTGGCCCCAGGGTAGCTTCTCCCAGGAGGCTTCATTCCAGCTGGAAAGGCCCCCAGTTCTCCAGGTGGCCCCACAGAGAAAGCAAAGTGGCTTCTCAGAGTTGGGGGTTGGAGTCAACCCGGGGCCCTCACACCTCCCCAACCTCCCTTTACTCACCAGGACCTGGCACTCAGGGGACAGCCCACCCACTGCAGGACCCTCTGGGCCCCAGGAATCCCCTGTAGGTGCCACCTGGGTCTGACCTGGGCCATCAGGCACAGACTGGCCTAGGATTTGGTTTGCCTGCTGACCTCTTAGGTCCCCAGGCAGTGCCCTGTCTCCCTGACCCCCCTGCGGGGCCAAGGGCACACAGTACCCACCACTTCCACCCACACCCACCTTCTCCTTGCAGCCCCTGAAGTGCATCATCAAGCACCCCAACGGGACCCAGGAGACCATCCTCCTGAACCACACCTTCAACGAGACGCAGATTGAGTGGTTCCGCGCTGGCAGTGCCCTCAACAGAATGAAGGAACTGCAACAGTGAGGGCAGTGCCTCCCCGCCCCGCCGCTGGCGTCAAGTTCAGCTCCACGTGTGCCATCAGTGGATCCGATCCGTCCAGCCATGGCTTCCTATTCCAAGATGGTGTGACCAGACATGCTTCCTGCTCCCCGCTTAGCCCACGGAGTGACTGTGGTTGTGGTGGGGGGGTTCTTAAAATAACTTTTTAGCCCCCGTCTTCCTATTTTGAGTTTGGTTCAGATCTTAAGCAGCTCCATGCAACTGTATTTATTTTTGATGACAAGACTCCCATCTAAAGTTTTTCTCCTGCCTGATCATTTCATTGGTGGCTGAAGGATTCTAGAGAACCTTTTGTTCTTGCAAGGAAAACAAGAATCCAAAACCAGTGACTGTTCTGTGAGTGATTGGTGTCTGTGCCGTTTGTTGTCAAGTCCAGGGTCCAGGAAGGGTCTTTTCAGTCAAGGTCAGTGGAGGCCCAACAGCCACAGCCACAGATGGATCCATCACTGCAGTGAAGGAGGAGCAGGGCCTAGATGGTGGAGGAGCGGGGCAAGCTGGTGGGCACTCCTGGCCTTGCCTCACTGTCCAGCTCGAGACACTATCTCCTTAGCATCGGCCTCAGCTGCTGTTGTCTTCACAGCCGGCCATACCACCTTCCCGCAGGCTGGTAGGGTCCACTGTCCAGCCCCAGGGCTAGTTGCTGGTCCACCAGGAGAGAAGGCCCAGGCCTGGCTCACTGATGGATCCCTGCCAGGGATAAAGAACACGCACATTTCACTGACATGCTGGCTTGAACCAACCTGGACAGGAGGTGAAGGGAGCCCAGCAGGCCCAGCACAGGCAAAGAAGAGGCGGGGCACACGGCAGCCAAGAGGCTCTGGAGAGATGTGGGAGCCACAGCAGTGCTCCCAACGGGCACGCAGCACGCAGGGCGCAGACCCTTCTCCAGGGACTCCAGGCCCTGATAGGGTCAGGGACCCTTCCTCACCCTTAGGCCTGCCCTCCAGGGCCACCTAGGTTCTAATCGTGGCAGGAAGGCTGAGCAAACACAAGGCCCATGCTCCAGACGCATCCAACAGGGAGCAGCCTTGAAAGCCACTCTTCCCCGGAGCCCTCCCTTTTATTTCACTGCTGCAATGCTGCTCCTACAGGGAGCCCTACCTTTTTTTTGTTGTTTTTTTTTTTTGAGACAGTCTCGCACTGTCACCCGGGCTGGAGTGGAGTGGCACGATCTTGGCTCACTGCAACCTCCACCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCNN	pathogenic	327,699
Regarding the variant found on chromosome 22 at position 42128173 in gene CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)): is it benign or pathogenic? If pathogenic, identify the disease(s).	benign	GAGGTGACTGTTGTGATGGTGCTGGCAGGACTGCTGTCCCTGATGTGGGGTGGGCTGAGTTAGGCCTGAAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCGAGTTGGAACTACCACATTGCTTTATTGTACATTAGAGCCTCTGGCTAGGGAGCAGGCTGGGGACTAGGTACCCCATTCTAGCGGGGCACAGCACAAAGCTCATAGGGGGATGGGCTCACCAGGAAAGCAAAGACACCATGGTGGCTGGGCCGGGGCTGTCCAGTGGGCACCGAGAAGCTGAAGTGCTGCAGCAGGGAGGTGAAGAAGAGGAAGAGCTCCATGCGGGCCAGGGGCTCCCCGAGGCATGCACGGCGGCCTGTGGGGAGGGGAGGGGCGTCAGTGAGCCTGGCTCCTGGGTGATACCCCTGCAAGACTCCACGGAAGGGGACAGGGAGCCGGGCTCCCCACAGGCACCTGCTGAGAAAGGCAGGAAGGCCTCCGGCTTCACAAAGTGGCCCTGGGCATCCAGGAAGTGTTCGGGGTGGAAGCGGAAGGGCTTCTCCCAGACGGCCTCATCCTTCAGCACCGATGACAGGTTGGTGATGAGTGTCGTTCCCTGGGCAGGAGATGCAGGGTGAGAGTGGGGACTGGACTCTAGGATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAGGGTTCCTAGAGTGGGCCCACCTGGCAGTAGCCATGCTGGGGCTATCACCAGGTGCTGGTGCTGAGCTGGGGTGAGGAGGGCGCCAGGCCTACCTTAGGGATGCGGAAGCCCTGTACTTCGATGTCACGGGATGTCATATGGGTCACACCCAGGGGGACGATGTCCCCAAAGCGCTGCACCTCATGAATCACGGCAGTGGTGTAGGGCATGTGAGCCTGGTCACCCATCTCTGGTCGCCGCACCTGCCCTATCACGTCGTCGATCTCCTGTTGGACACGGCCTGGACAGACATGCGTCCCCACAATGGGTCAGCACCCAGGGGGTCCGGCCCTGACACTCCTTCTTGCCTCCTATGTTGGAGGAGGTCAGGCTTACAGGATCCTGGTCAAGCCTGTGCTTGGAGCCCCGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTCCAACCTTTTGCCCAGCCTCCCCTCATTCCTCCTGGGACGCTCAACCCACCACCCTTGCCCCCCACCGTGGCAGCCACTCTCACCTTCTCCATCTCTGCCAGGAAGGCCTCAGTCAGGTCTCGGGGGGGCTGGGCTGGGTCCCAGGTCATCCTGTGCTCAGTTAGCAGCTCATCCAGCTGGGTCAGGAAAGCCTTTTGGAAGCGTAGGACCTTGCCAGCCAGCGCTGGGATATGCAGGAGGACGGGGACAGCATTCAGCACCTACACCAGACAGAACGGGGTCTCAATCCCTCCTGTGCTCTGCGTTCACCTGGACAAGTCTCAGGCCCCAGCCATCTCCAGGTAGACCCAGGGCCTGCCTGTCCTTACCACTGACCTCACCAAGTCCCTCCCCAAGTGCCAGCCTCCACCCTCTCTCCTTGCCCAGAGGAGAAACCTAAAATCGAAATCTCTGACGTGGATAGGAGGTACAGAGTCCTTGGCCTCTCCTGGTGCCCCCTGACCCGGGCACACCTCTCCCACGACCATGTCTGAGATGTCCCCTCCTCCTCCAGGCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGGGTAAGGGGTCGCCTTCCCCGTCCCCCGCCTTCCCAGTTCCCGCTTTGTGCCCTTCTGCCCATCACCCACCGGAGTGGTTGGCGAAGGCGGCACAAAGGCAGGCGGCCTCCTCGGTCACCCACTGCTCCAGCGACTTCTTGCCCAGGCCCAAGTTGCGCAAGGTGGACACGGAGAAGCGCCTCTGCTCGCGCCACGCGGGCCCATAGCGCGCCAGGAACACCCCTGGGGGTGGGACGGGCACGTGCGCGTGGCCATGAAGGCATTAGCCCCACCATCCACCACCCACTCCAACCCTATGCTCCCCCTGGTCTCCCGCAGTCCCTGGCTCTGTCCAGCTGGTCACAGGGCCCACTCTTTGTGCATCCACCTTGCTCCCTTGGCTGGGGCAGGGCTTTGCCCCACCTCGTCTCTGCCCACCCTGACCGCCTTTGCACTCAGGGAAGACCCCGCGGGCCCCGCGCCACCCACACTGAGCTTACAGCACAGGTGCGGTCCCCGCCCCCCACTTCGACACCGGATTCCAGCTGGGAAATGCGCCAGCCTCACCCATTGGGCTCCTGCCAGGTCTCGGCAGTGGCCCCGCCCACTCGTCACAAGCCCCGCCCTCGTCCCCATGCTCACACCTCCCTAGTGCAGGTGGTTTCTTGGCCCGCTGTCCCCACTCGCTGGCCTGTTTCATGTCCACGACCCCGCGCCCTCTCTGCCCAGCTCGGACTACGGTCATCACCCACCCGGGTCCCACGGAAATCTGTCTCTGTCCCCACCGCTGCTTGCCTTGGGAACGCGGCCCGAAACCCAGGATCTGGGTGATGGGCACAGGCGGGCGGTCGGCGGTGTCCTCGCCGTGGGTCACCAGCGCCTCGCGCACGGCCGCCAGCCCATTGAGCACGACCACCGGCGTCCAGGCCAGCTGCAGGCTGAACACGTCCCCGAAGCGGCGCCGCAACTGCAGAGGGAGGGTCAGGGCCTCTTGTCAAGCCAGGATCACCCCAGACTACAGGTCCTAGTCCTATTTGAACCTTGGACGACCCCCGGGGCTACCAGGAGTGAGCAGGTGGAAGGAGGAGACCCAGCCTCCTGATCGTGGGGCGGGGGTGGGGGTCACACCTTCTGTGATGGAGGAACTCAGTTTGGATGCGTCACCCAGGTATGACCTTGCAAGAGTCACCAAAATTGCCGAGAGGCCCCAGTTAGCATCCCATTCCCAGATGATGGTCCATGCCGGTGAGCAGTGAGGCCCGAGGACCCACAGTGCAA	GAGGTGACTGTTGTGATGGTGCTGGCAGGACTGCTGTCCCTGATGTGGGGTGGGCTGAGTTAGGCCTGAAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCGAGTTGGAACTACCACATTGCTTTATTGTACATTAGAGCCTCTGGCTAGGGAGCAGGCTGGGGACTAGGTACCCCATTCTAGCGGGGCACAGCACAAAGCTCATAGGGGGATGGGCTCACCAGGAAAGCAAAGACACCATGGTGGCTGGGCCGGGGCTGTCCAGTGGGCACCGAGAAGCTGAAGTGCTGCAGCAGGGAGGTGAAGAAGAGGAAGAGCTCCATGCGGGCCAGGGGCTCCCCGAGGCATGCACGGCGGCCTGTGGGGAGGGGAGGGGCGTCAGTGAGCCTGGCTCCTGGGTGATACCCCTGCAAGACTCCACGGAAGGGGACAGGGAGCCGGGCTCCCCACAGGCACCTGCTGAGAAAGGCAGGAAGGCCTCCGGCTTCACAAAGTGGCCCTGGGCATCCAGGAAGTGTTCGGGGTGGAAGCGGAAGGGCTTCTCCCAGACGGCCTCATCCTTCAGCACCGATGACAGGTTGGTGATGAGTGTCGTTCCCTGGGCAGGAGATGCAGGGTGAGAGTGGGGACTGGACTCTAGGATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAGGGTTCCTAGAGTGGGCCCACCTGGCAGTAGCCATGCTGGGGCTATCACCAGGTGCTGGTGCTGAGCTGGGGTGAGGAGGGCGCCAGGCCTACCTTAGGGATGCGGAAGCCCTGTACTTCGATGTCACGGGATGTCATATGGGTCACACCCAGGGGGACGATGTCCCCAAAGCGCTGCACCTCATGAATCACGGCAGTGGTGTAGGGCATGTGAGCCTGGTCACCCATCTCTGGTCGCCGCACCTGCCCTATCACGTCGTCGATCTCCTGTTGGACACGGCCTGGACAGACATGCGTCCCCACAATGGGTCAGCACCCAGGGGGTCCGGCCCTGACACTCCTTCTTGCCTCCTATGTTGGAGGAGGTCAGGCTTACAGGATCCTGGTCAAGCCTGTGCTTGGAGCCCCGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTCCAACCTTTTGCCCAGCCTCCCCTCATTCCTCCTGGGACGCTCAACCCACCACCCTTGCCCCCCACCGTGGCAGCCACTCTCACCTCCATCTCTGCCAGGAAGGCCTCAGTCAGGTCTCGGGGGGGCTGGGCTGGGTCCCAGGTCATCCTGTGCTCAGTTAGCAGCTCATCCAGCTGGGTCAGGAAAGCCTTTTGGAAGCGTAGGACCTTGCCAGCCAGCGCTGGGATATGCAGGAGGACGGGGACAGCATTCAGCACCTACACCAGACAGAACGGGGTCTCAATCCCTCCTGTGCTCTGCGTTCACCTGGACAAGTCTCAGGCCCCAGCCATCTCCAGGTAGACCCAGGGCCTGCCTGTCCTTACCACTGACCTCACCAAGTCCCTCCCCAAGTGCCAGCCTCCACCCTCTCTCCTTGCCCAGAGGAGAAACCTAAAATCGAAATCTCTGACGTGGATAGGAGGTACAGAGTCCTTGGCCTCTCCTGGTGCCCCCTGACCCGGGCACACCTCTCCCACGACCATGTCTGAGATGTCCCCTCCTCCTCCAGGCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGGGTAAGGGGTCGCCTTCCCCGTCCCCCGCCTTCCCAGTTCCCGCTTTGTGCCCTTCTGCCCATCACCCACCGGAGTGGTTGGCGAAGGCGGCACAAAGGCAGGCGGCCTCCTCGGTCACCCACTGCTCCAGCGACTTCTTGCCCAGGCCCAAGTTGCGCAAGGTGGACACGGAGAAGCGCCTCTGCTCGCGCCACGCGGGCCCATAGCGCGCCAGGAACACCCCTGGGGGTGGGACGGGCACGTGCGCGTGGCCATGAAGGCATTAGCCCCACCATCCACCACCCACTCCAACCCTATGCTCCCCCTGGTCTCCCGCAGTCCCTGGCTCTGTCCAGCTGGTCACAGGGCCCACTCTTTGTGCATCCACCTTGCTCCCTTGGCTGGGGCAGGGCTTTGCCCCACCTCGTCTCTGCCCACCCTGACCGCCTTTGCACTCAGGGAAGACCCCGCGGGCCCCGCGCCACCCACACTGAGCTTACAGCACAGGTGCGGTCCCCGCCCCCCACTTCGACACCGGATTCCAGCTGGGAAATGCGCCAGCCTCACCCATTGGGCTCCTGCCAGGTCTCGGCAGTGGCCCCGCCCACTCGTCACAAGCCCCGCCCTCGTCCCCATGCTCACACCTCCCTAGTGCAGGTGGTTTCTTGGCCCGCTGTCCCCACTCGCTGGCCTGTTTCATGTCCACGACCCCGCGCCCTCTCTGCCCAGCTCGGACTACGGTCATCACCCACCCGGGTCCCACGGAAATCTGTCTCTGTCCCCACCGCTGCTTGCCTTGGGAACGCGGCCCGAAACCCAGGATCTGGGTGATGGGCACAGGCGGGCGGTCGGCGGTGTCCTCGCCGTGGGTCACCAGCGCCTCGCGCACGGCCGCCAGCCCATTGAGCACGACCACCGGCGTCCAGGCCAGCTGCAGGCTGAACACGTCCCCGAAGCGGCGCCGCAACTGCAGAGGGAGGGTCAGGGCCTCTTGTCAAGCCAGGATCACCCCAGACTACAGGTCCTAGTCCTATTTGAACCTTGGACGACCCCCGGGGCTACCAGGAGTGAGCAGGTGGAAGGAGGAGACCCAGCCTCCTGATCGTGGGGCGGGGGTGGGGGTCACACCTTCTGTGATGGAGGAACTCAGTTTGGATGCGTCACCCAGGTATGACCTTGCAAGAGTCACCAAAATTGCCGAGAGGCCCCAGTTAGCATCCCATTCCCAGATGATGGTCCATGCCGGTGAGCAGTGAGGCCCGAGGACCCACAGTGCAANNN	benign	327,790
The genetic variant at chromosome 22, position 42128241, affecting gene CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)): benign or pathogenic? Disease name(s) if pathogenic?	benign	AAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCGAGTTGGAACTACCACATTGCTTTATTGTACATTAGAGCCTCTGGCTAGGGAGCAGGCTGGGGACTAGGTACCCCATTCTAGCGGGGCACAGCACAAAGCTCATAGGGGGATGGGCTCACCAGGAAAGCAAAGACACCATGGTGGCTGGGCCGGGGCTGTCCAGTGGGCACCGAGAAGCTGAAGTGCTGCAGCAGGGAGGTGAAGAAGAGGAAGAGCTCCATGCGGGCCAGGGGCTCCCCGAGGCATGCACGGCGGCCTGTGGGGAGGGGAGGGGCGTCAGTGAGCCTGGCTCCTGGGTGATACCCCTGCAAGACTCCACGGAAGGGGACAGGGAGCCGGGCTCCCCACAGGCACCTGCTGAGAAAGGCAGGAAGGCCTCCGGCTTCACAAAGTGGCCCTGGGCATCCAGGAAGTGTTCGGGGTGGAAGCGGAAGGGCTTCTCCCAGACGGCCTCATCCTTCAGCACCGATGACAGGTTGGTGATGAGTGTCGTTCCCTGGGCAGGAGATGCAGGGTGAGAGTGGGGACTGGACTCTAGGATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAGGGTTCCTAGAGTGGGCCCACCTGGCAGTAGCCATGCTGGGGCTATCACCAGGTGCTGGTGCTGAGCTGGGGTGAGGAGGGCGCCAGGCCTACCTTAGGGATGCGGAAGCCCTGTACTTCGATGTCACGGGATGTCATATGGGTCACACCCAGGGGGACGATGTCCCCAAAGCGCTGCACCTCATGAATCACGGCAGTGGTGTAGGGCATGTGAGCCTGGTCACCCATCTCTGGTCGCCGCACCTGCCCTATCACGTCGTCGATCTCCTGTTGGACACGGCCTGGACAGACATGCGTCCCCACAATGGGTCAGCACCCAGGGGGTCCGGCCCTGACACTCCTTCTTGCCTCCTATGTTGGAGGAGGTCAGGCTTACAGGATCCTGGTCAAGCCTGTGCTTGGAGCCCCGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTCCAACCTTTTGCCCAGCCTCCCCTCATTCCTCCTGGGACGCTCAACCCACCACCCTTGCCCCCCACCGTGGCAGCCACTCTCACCTTCTCCATCTCTGCCAGGAAGGCCTCAGTCAGGTCTCGGGGGGGCTGGGCTGGGTCCCAGGTCATCCTGTGCTCAGTTAGCAGCTCATCCAGCTGGGTCAGGAAAGCCTTTTGGAAGCGTAGGACCTTGCCAGCCAGCGCTGGGATATGCAGGAGGACGGGGACAGCATTCAGCACCTACACCAGACAGAACGGGGTCTCAATCCCTCCTGTGCTCTGCGTTCACCTGGACAAGTCTCAGGCCCCAGCCATCTCCAGGTAGACCCAGGGCCTGCCTGTCCTTACCACTGACCTCACCAAGTCCCTCCCCAAGTGCCAGCCTCCACCCTCTCTCCTTGCCCAGAGGAGAAACCTAAAATCGAAATCTCTGACGTGGATAGGAGGTACAGAGTCCTTGGCCTCTCCTGGTGCCCCCTGACCCGGGCACACCTCTCCCACGACCATGTCTGAGATGTCCCCTCCTCCTCCAGGCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGGGTAAGGGGTCGCCTTCCCCGTCCCCCGCCTTCCCAGTTCCCGCTTTGTGCCCTTCTGCCCATCACCCACCGGAGTGGTTGGCGAAGGCGGCACAAAGGCAGGCGGCCTCCTCGGTCACCCACTGCTCCAGCGACTTCTTGCCCAGGCCCAAGTTGCGCAAGGTGGACACGGAGAAGCGCCTCTGCTCGCGCCACGCGGGCCCATAGCGCGCCAGGAACACCCCTGGGGGTGGGACGGGCACGTGCGCGTGGCCATGAAGGCATTAGCCCCACCATCCACCACCCACTCCAACCCTATGCTCCCCCTGGTCTCCCGCAGTCCCTGGCTCTGTCCAGCTGGTCACAGGGCCCACTCTTTGTGCATCCACCTTGCTCCCTTGGCTGGGGCAGGGCTTTGCCCCACCTCGTCTCTGCCCACCCTGACCGCCTTTGCACTCAGGGAAGACCCCGCGGGCCCCGCGCCACCCACACTGAGCTTACAGCACAGGTGCGGTCCCCGCCCCCCACTTCGACACCGGATTCCAGCTGGGAAATGCGCCAGCCTCACCCATTGGGCTCCTGCCAGGTCTCGGCAGTGGCCCCGCCCACTCGTCACAAGCCCCGCCCTCGTCCCCATGCTCACACCTCCCTAGTGCAGGTGGTTTCTTGGCCCGCTGTCCCCACTCGCTGGCCTGTTTCATGTCCACGACCCCGCGCCCTCTCTGCCCAGCTCGGACTACGGTCATCACCCACCCGGGTCCCACGGAAATCTGTCTCTGTCCCCACCGCTGCTTGCCTTGGGAACGCGGCCCGAAACCCAGGATCTGGGTGATGGGCACAGGCGGGCGGTCGGCGGTGTCCTCGCCGTGGGTCACCAGCGCCTCGCGCACGGCCGCCAGCCCATTGAGCACGACCACCGGCGTCCAGGCCAGCTGCAGGCTGAACACGTCCCCGAAGCGGCGCCGCAACTGCAGAGGGAGGGTCAGGGCCTCTTGTCAAGCCAGGATCACCCCAGACTACAGGTCCTAGTCCTATTTGAACCTTGGACGACCCCCGGGGCTACCAGGAGTGAGCAGGTGGAAGGAGGAGACCCAGCCTCCTGATCGTGGGGCGGGGGTGGGGGTCACACCTTCTGTGATGGAGGAACTCAGTTTGGATGCGTCACCCAGGTATGACCTTGCAAGAGTCACCAAAATTGCCGAGAGGCCCCAGTTAGCATCCCATTCCCAGATGATGGTCCATGCCGGTGAGCAGTGAGGCCCGAGGACCCACAGTGCAAAAGGTTTGAACCGGGTCACTGCACCCCCTTCATCCTCGATTTCGTGATTTAAACGGCACTCAGGACTA	AAATATGGGCCTCCAGGCTGAGTCCTGCCCTCTCCACCACATCCAGGGCTGACTGACACCTCTAGTCAGCCCATTCTGGCCCCTTCCCCACATGCCAGGACAATGTAGTCCTTGTCACCAATCTGGGCAGTCAGAGTTGGGTCAGTGGGGGACATGGGATTATGGGCAAGGGTAACTGACATCTGCTCAGCCTCAACGTACCCCTGTCTCAAATGCGGCCAGGCGGTGGGGTAAGCAGGAATGAGGCAGGGGTGGGGTTGCCCTGAGGAGGATGATCCCAACGAGGGCGTGAGCAGGGGACCCGAGTTGGAACTACCACATTGCTTTATTGTACATTAGAGCCTCTGGCTAGGGAGCAGGCTGGGGACTAGGTACCCCATTCTAGCGGGGCACAGCACAAAGCTCATAGGGGGATGGGCTCACCAGGAAAGCAAAGACACCATGGTGGCTGGGCCGGGGCTGTCCAGTGGGCACCGAGAAGCTGAAGTGCTGCAGCAGGGAGGTGAAGAAGAGGAAGAGCTCCATGCGGGCCAGGGGCTCCCCGAGGCATGCACGGCGGCCTGTGGGGAGGGGAGGGGCGTCAGTGAGCCTGGCTCCTGGGTGATACCCCTGCAAGACTCCACGGAAGGGGACAGGGAGCCGGGCTCCCCACAGGCACCTGCTGAGAAAGGCAGGAAGGCCTCCGGCTTCACAAAGTGGCCCTGGGCATCCAGGAAGTGTTCGGGGTGGAAGCGGAAGGGCTTCTCCCAGACGGCCTCATCCTTCAGCACCGATGACAGGTTGGTGATGAGTGTCGTTCCCTGGGCAGGAGATGCAGGGTGAGAGTGGGGACTGGACTCTAGGATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAGGGTTCCTAGAGTGGGCCCACCTGGCAGTAGCCATGCTGGGGCTATCACCAGGTGCTGGTGCTGAGCTGGGGTGAGGAGGGCGCCAGGCCTACCTTAGGGATGCGGAAGCCCTGTACTTCGATGTCACGGGATGTCATATGGGTCACACCCAGGGGGACGATGTCCCCAAAGCGCTGCACCTCATGAATCACGGCAGTGGTGTAGGGCATGTGAGCCTGGTCACCCATCTCTGGTCGCCGCACCTGCCCTATCACGTCGTCGATCTCCTGTTGGACACGGCCTGGACAGACATGCGTCCCCACAATGGGTCAGCACCCAGGGGGTCCGGCCCTGACACTCCTTCTTGCCTCCTATGTTGGAGGAGGTCAGGCTTACAGGATCCTGGTCAAGCCTGTGCTTGGAGCCCCGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTCCAACCTTTTGCCCAGCCTCCCCTCATTCCTCCTGGGACGCTCAACCCACCACCCTTGCCCCCCACCGTGGCAGCCACTCTCACCTTCTCCATCTCTGCCAGGAAGGCCTCAGTCAGGTCTCGGGGGGGCTGGGCTGGGTCCCAGGTCATCCGTGCTCAGTTAGCAGCTCATCCAGCTGGGTCAGGAAAGCCTTTTGGAAGCGTAGGACCTTGCCAGCCAGCGCTGGGATATGCAGGAGGACGGGGACAGCATTCAGCACCTACACCAGACAGAACGGGGTCTCAATCCCTCCTGTGCTCTGCGTTCACCTGGACAAGTCTCAGGCCCCAGCCATCTCCAGGTAGACCCAGGGCCTGCCTGTCCTTACCACTGACCTCACCAAGTCCCTCCCCAAGTGCCAGCCTCCACCCTCTCTCCTTGCCCAGAGGAGAAACCTAAAATCGAAATCTCTGACGTGGATAGGAGGTACAGAGTCCTTGGCCTCTCCTGGTGCCCCCTGACCCGGGCACACCTCTCCCACGACCATGTCTGAGATGTCCCCTCCTCCTCCAGGCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGGGTAAGGGGTCGCCTTCCCCGTCCCCCGCCTTCCCAGTTCCCGCTTTGTGCCCTTCTGCCCATCACCCACCGGAGTGGTTGGCGAAGGCGGCACAAAGGCAGGCGGCCTCCTCGGTCACCCACTGCTCCAGCGACTTCTTGCCCAGGCCCAAGTTGCGCAAGGTGGACACGGAGAAGCGCCTCTGCTCGCGCCACGCGGGCCCATAGCGCGCCAGGAACACCCCTGGGGGTGGGACGGGCACGTGCGCGTGGCCATGAAGGCATTAGCCCCACCATCCACCACCCACTCCAACCCTATGCTCCCCCTGGTCTCCCGCAGTCCCTGGCTCTGTCCAGCTGGTCACAGGGCCCACTCTTTGTGCATCCACCTTGCTCCCTTGGCTGGGGCAGGGCTTTGCCCCACCTCGTCTCTGCCCACCCTGACCGCCTTTGCACTCAGGGAAGACCCCGCGGGCCCCGCGCCACCCACACTGAGCTTACAGCACAGGTGCGGTCCCCGCCCCCCACTTCGACACCGGATTCCAGCTGGGAAATGCGCCAGCCTCACCCATTGGGCTCCTGCCAGGTCTCGGCAGTGGCCCCGCCCACTCGTCACAAGCCCCGCCCTCGTCCCCATGCTCACACCTCCCTAGTGCAGGTGGTTTCTTGGCCCGCTGTCCCCACTCGCTGGCCTGTTTCATGTCCACGACCCCGCGCCCTCTCTGCCCAGCTCGGACTACGGTCATCACCCACCCGGGTCCCACGGAAATCTGTCTCTGTCCCCACCGCTGCTTGCCTTGGGAACGCGGCCCGAAACCCAGGATCTGGGTGATGGGCACAGGCGGGCGGTCGGCGGTGTCCTCGCCGTGGGTCACCAGCGCCTCGCGCACGGCCGCCAGCCCATTGAGCACGACCACCGGCGTCCAGGCCAGCTGCAGGCTGAACACGTCCCCGAAGCGGCGCCGCAACTGCAGAGGGAGGGTCAGGGCCTCTTGTCAAGCCAGGATCACCCCAGACTACAGGTCCTAGTCCTATTTGAACCTTGGACGACCCCCGGGGCTACCAGGAGTGAGCAGGTGGAAGGAGGAGACCCAGCCTCCTGATCGTGGGGCGGGGGTGGGGGTCACACCTTCTGTGATGGAGGAACTCAGTTTGGATGCGTCACCCAGGTATGACCTTGCAAGAGTCACCAAAATTGCCGAGAGGCCCCAGTTAGCATCCCATTCCCAGATGATGGTCCATGCCGGTGAGCAGTGAGGCCCGAGGACCCACAGTGCAAAAGGTTTGAACCGGGTCACTGCACCCCCTTCATCCTCGATTTCGTGATTTAAACGGCACTCAGGACTAN	benign	327,791
A genetic alteration at chromosome 22, position 42129083, in gene CYP2D6 (cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene))—benign or pathogenic? If pathogenic, which disease(s) is involved?	benign	GATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAGGGTTCCTAGAGTGGGCCCACCTGGCAGTAGCCATGCTGGGGCTATCACCAGGTGCTGGTGCTGAGCTGGGGTGAGGAGGGCGCCAGGCCTACCTTAGGGATGCGGAAGCCCTGTACTTCGATGTCACGGGATGTCATATGGGTCACACCCAGGGGGACGATGTCCCCAAAGCGCTGCACCTCATGAATCACGGCAGTGGTGTAGGGCATGTGAGCCTGGTCACCCATCTCTGGTCGCCGCACCTGCCCTATCACGTCGTCGATCTCCTGTTGGACACGGCCTGGACAGACATGCGTCCCCACAATGGGTCAGCACCCAGGGGGTCCGGCCCTGACACTCCTTCTTGCCTCCTATGTTGGAGGAGGTCAGGCTTACAGGATCCTGGTCAAGCCTGTGCTTGGAGCCCCGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTCCAACCTTTTGCCCAGCCTCCCCTCATTCCTCCTGGGACGCTCAACCCACCACCCTTGCCCCCCACCGTGGCAGCCACTCTCACCTTCTCCATCTCTGCCAGGAAGGCCTCAGTCAGGTCTCGGGGGGGCTGGGCTGGGTCCCAGGTCATCCTGTGCTCAGTTAGCAGCTCATCCAGCTGGGTCAGGAAAGCCTTTTGGAAGCGTAGGACCTTGCCAGCCAGCGCTGGGATATGCAGGAGGACGGGGACAGCATTCAGCACCTACACCAGACAGAACGGGGTCTCAATCCCTCCTGTGCTCTGCGTTCACCTGGACAAGTCTCAGGCCCCAGCCATCTCCAGGTAGACCCAGGGCCTGCCTGTCCTTACCACTGACCTCACCAAGTCCCTCCCCAAGTGCCAGCCTCCACCCTCTCTCCTTGCCCAGAGGAGAAACCTAAAATCGAAATCTCTGACGTGGATAGGAGGTACAGAGTCCTTGGCCTCTCCTGGTGCCCCCTGACCCGGGCACACCTCTCCCACGACCATGTCTGAGATGTCCCCTCCTCCTCCAGGCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGGGTAAGGGGTCGCCTTCCCCGTCCCCCGCCTTCCCAGTTCCCGCTTTGTGCCCTTCTGCCCATCACCCACCGGAGTGGTTGGCGAAGGCGGCACAAAGGCAGGCGGCCTCCTCGGTCACCCACTGCTCCAGCGACTTCTTGCCCAGGCCCAAGTTGCGCAAGGTGGACACGGAGAAGCGCCTCTGCTCGCGCCACGCGGGCCCATAGCGCGCCAGGAACACCCCTGGGGGTGGGACGGGCACGTGCGCGTGGCCATGAAGGCATTAGCCCCACCATCCACCACCCACTCCAACCCTATGCTCCCCCTGGTCTCCCGCAGTCCCTGGCTCTGTCCAGCTGGTCACAGGGCCCACTCTTTGTGCATCCACCTTGCTCCCTTGGCTGGGGCAGGGCTTTGCCCCACCTCGTCTCTGCCCACCCTGACCGCCTTTGCACTCAGGGAAGACCCCGCGGGCCCCGCGCCACCCACACTGAGCTTACAGCACAGGTGCGGTCCCCGCCCCCCACTTCGACACCGGATTCCAGCTGGGAAATGCGCCAGCCTCACCCATTGGGCTCCTGCCAGGTCTCGGCAGTGGCCCCGCCCACTCGTCACAAGCCCCGCCCTCGTCCCCATGCTCACACCTCCCTAGTGCAGGTGGTTTCTTGGCCCGCTGTCCCCACTCGCTGGCCTGTTTCATGTCCACGACCCCGCGCCCTCTCTGCCCAGCTCGGACTACGGTCATCACCCACCCGGGTCCCACGGAAATCTGTCTCTGTCCCCACCGCTGCTTGCCTTGGGAACGCGGCCCGAAACCCAGGATCTGGGTGATGGGCACAGGCGGGCGGTCGGCGGTGTCCTCGCCGTGGGTCACCAGCGCCTCGCGCACGGCCGCCAGCCCATTGAGCACGACCACCGGCGTCCAGGCCAGCTGCAGGCTGAACACGTCCCCGAAGCGGCGCCGCAACTGCAGAGGGAGGGTCAGGGCCTCTTGTCAAGCCAGGATCACCCCAGACTACAGGTCCTAGTCCTATTTGAACCTTGGACGACCCCCGGGGCTACCAGGAGTGAGCAGGTGGAAGGAGGAGACCCAGCCTCCTGATCGTGGGGCGGGGGTGGGGGTCACACCTTCTGTGATGGAGGAACTCAGTTTGGATGCGTCACCCAGGTATGACCTTGCAAGAGTCACCAAAATTGCCGAGAGGCCCCAGTTAGCATCCCATTCCCAGATGATGGTCCATGCCGGTGAGCAGTGAGGCCCGAGGACCCACAGTGCAAAAGGTTTGAACCGGGTCACTGCACCCCCTTCATCCTCGATTTCGTGATTTAAACGGCACTCAGGACTAACTCATCTTCCATTCCCAAGGCCTTTCCTTCTGGTGTCAGCAGAAGGGACTTTGTACTCCATAACATATGTTGCCCAATGGGCTTGCATGCCCACTGCCAAGTCCAGCTCCACCTCCAGGCCCTTGCCCTACTCTTCCTTGGCCTTTGGAAAATCCAGTCCTTCATGCCATGTATAAATGCCCTTCTCCAGGACGTCCCCCAAACCTGCTTCCCCTTCTCAGCCTGGCTTCTGGTCCAGCCTGTGGTTTCACCCACCATCCATGTTTGCTTCTGGTAGGGGAGCCTCAGCACCTCTGCCGCCCTCCAGGACCTCCTCCCTCACCTGGTCGAAGCAGTATGGTGTGTTCTGGAAGTCCACATGCAGCAGGTTGCCCAGCCCGGGCAGTGGCAGGGGGCCTGGTGGGTAGCGTGCAGCCCAGCGTTGGCGCCGGTGCATCAGGTCCACCAGGAGCAGGAAGATGGCCACTATCACGGCCAGGGGCACCAGTGCTTCTAGCCCCATACCTGCCTCACTACCAAATGGGCTCCTCTGGACACACCTGGCACCCCCACCCCACCAGGCACAGAGGACCAGGCAGGACACTCTCAGCACACCGAGCGCGTGACCCTTCCCTTATAAAGGGAGCTGATGATGGCCTTTGCCCTCTGCTGTGAGTGAACCTGCTGTGTTGACTGTGCTGCCAGTGGCAGAGTCAGGCCAGGGCGGGTATGGGCTGCTCCAGAGGTTCTTGCCCCTGCTTCCTGCTCCAGGCCCTTACCCAGGGTAGGCCGGTGGAGGGGCCTGGTCGGAGAAGTCACCCCCTCTCCCCACTCCAAGCTCCTGAAGCCTGCAAAGCCTTCT	GATGCTGGGACCCCTGCCACCAAACACACGGGGGACACACACTGCCTGGCACACAGCTGGACTCTGTCAACTAGTCCTGCGCCCGAGAAGCTCCACAGTACCCTCTCCGACCCCACAGCAGGGCGCAGTCACACCTCTCAGAGGCACCCACACTGCCCCCTCTCCCTGCAGGCGTTGGGTCCTCCAACATTCTGGCAGGTCCTGGTTTGTCTCCCCACTAGACGGGGGCTCTGGATGGACAGGCCAGCCCTGCCTATACTCTGGACCCCCCACCCAAGTGGGGACAGTCAGTGTGGTGGCATTGAGGACTAGGTGGCCAGGGTTCCTAGAGTGGGCCCACCTGGCAGTAGCCATGCTGGGGCTATCACCAGGTGCTGGTGCTGAGCTGGGGTGAGGAGGGCGCCAGGCCTACCTTAGGGATGCGGAAGCCCTGTACTTCGATGTCACGGGATGTCATATGGGTCACACCCAGGGGGACGATGTCCCCAAAGCGCTGCACCTCATGAATCACGGCAGTGGTGTAGGGCATGTGAGCCTGGTCACCCATCTCTGGTCGCCGCACCTGCCCTATCACGTCGTCGATCTCCTGTTGGACACGGCCTGGACAGACATGCGTCCCCACAATGGGTCAGCACCCAGGGGGTCCGGCCCTGACACTCCTTCTTGCCTCCTATGTTGGAGGAGGTCAGGCTTACAGGATCCTGGTCAAGCCTGTGCTTGGAGCCCCGGGTGTCCCAGCAAAGTTCATGGGCCCCCGCCTGTACCCTTCCTCCCTCGGCCCCTGCACTGTTTCCCAGATGGGCTCACGCTGCACATCCGGATGTAGGATCATGAGCAGGAGGCCCCAGGCCAGCGTGGTCGAGGTGGTCACCATCCCGGCAGAGAACAGGTCAGCCACCACTATGCGCAGGTTCTCATCATTGAAGCTGCTCTCAGGGTTCCCCTTGGCCTGAGCAGGGCCGAGAGCATACTCGGGACAGAACGGGGTAGCCCCCAAATGACCTCCAATTCTGCACCTGTCAGCCCAGATGCGGCTCGCCGGGTGATGCACTGGTCCAACCTTTTGCCCAGCCTCCCCTCATTCCTCCTGGGACGCTCAACCCACCACCCTTGCCCCCCACCGTGGCAGCCACTCTCACCTTCTCCATCTCTGCCAGGAAGGCCTCAGTCAGGTCTCGGGGGGGCTGGGCTGGGTCCCAGGTCATCCTGTGCTCAGTTAGCAGCTCATCCAGCTGGGTCAGGAAAGCCTTTTGGAAGCGTAGGACCTTGCCAGCCAGCGCTGGGATATGCAGGAGGACGGGGACAGCATTCAGCACCTACACCAGACAGAACGGGGTCTCAATCCCTCCTGTGCTCTGCGTTCACCTGGACAAGTCTCAGGCCCCAGCCATCTCCAGGTAGACCCAGGGCCTGCCTGTCCTTACCACTGACCTCACCAAGTCCCTCCCCAAGTGCCAGCCTCCACCCTCTCTCCTTGCCCAGAGGAGAAACCTAAAATCGAAATCTCTGACGTGGATAGGAGGTACAGAGTCCTTGGCCTCTCCTGGTGCCCCCTGACCCGGGCACACCTCTCCCACGACCATGTCTGAGATGTCCCCTCCTCCTCCAGGCCCTTCTTACAGTGGGGTCTCCTGGAATGTCCTTTCCCAAACCCATCTATGCAAATCCTGCTCTTCCGAGGCCCCAGTCCAGCCCCGGCACCTCTCGGGAGCTCGCCCTGCAGAGACTCCTCGGTCTCTCGCTCCGCACCTCGCGCAGAAAGCCCGACTCCTCCTTCAGTCCCTCCTGAGCTAGGTCCAGCAGCCTGAGGAAGCGAGGGTCGTCGTACTCGAAGCGGCGCCCGCAGGTGAGGGAGGCGATCACGTTGCTCACGGCTTTGTCCAAGAGACCGTTGGGGCGAAAGGGGCGTCCTGGGGGTGGGAGATGCGGGTAAGGGGTCGCCTTCCCCGTCCCCCGCCTTCCCAGTTCCCGCTTTGTGCCCTTCTGCCCATCACCCACCGGAGTGGTTGGCGAAGGCGGCACAAAGGCAGGCGGCCTCCTCGGTCACCCCTGCTCCAGCGACTTCTTGCCCAGGCCCAAGTTGCGCAAGGTGGACACGGAGAAGCGCCTCTGCTCGCGCCACGCGGGCCCATAGCGCGCCAGGAACACCCCTGGGGGTGGGACGGGCACGTGCGCGTGGCCATGAAGGCATTAGCCCCACCATCCACCACCCACTCCAACCCTATGCTCCCCCTGGTCTCCCGCAGTCCCTGGCTCTGTCCAGCTGGTCACAGGGCCCACTCTTTGTGCATCCACCTTGCTCCCTTGGCTGGGGCAGGGCTTTGCCCCACCTCGTCTCTGCCCACCCTGACCGCCTTTGCACTCAGGGAAGACCCCGCGGGCCCCGCGCCACCCACACTGAGCTTACAGCACAGGTGCGGTCCCCGCCCCCCACTTCGACACCGGATTCCAGCTGGGAAATGCGCCAGCCTCACCCATTGGGCTCCTGCCAGGTCTCGGCAGTGGCCCCGCCCACTCGTCACAAGCCCCGCCCTCGTCCCCATGCTCACACCTCCCTAGTGCAGGTGGTTTCTTGGCCCGCTGTCCCCACTCGCTGGCCTGTTTCATGTCCACGACCCCGCGCCCTCTCTGCCCAGCTCGGACTACGGTCATCACCCACCCGGGTCCCACGGAAATCTGTCTCTGTCCCCACCGCTGCTTGCCTTGGGAACGCGGCCCGAAACCCAGGATCTGGGTGATGGGCACAGGCGGGCGGTCGGCGGTGTCCTCGCCGTGGGTCACCAGCGCCTCGCGCACGGCCGCCAGCCCATTGAGCACGACCACCGGCGTCCAGGCCAGCTGCAGGCTGAACACGTCCCCGAAGCGGCGCCGCAACTGCAGAGGGAGGGTCAGGGCCTCTTGTCAAGCCAGGATCACCCCAGACTACAGGTCCTAGTCCTATTTGAACCTTGGACGACCCCCGGGGCTACCAGGAGTGAGCAGGTGGAAGGAGGAGACCCAGCCTCCTGATCGTGGGGCGGGGGTGGGGGTCACACCTTCTGTGATGGAGGAACTCAGTTTGGATGCGTCACCCAGGTATGACCTTGCAAGAGTCACCAAAATTGCCGAGAGGCCCCAGTTAGCATCCCATTCCCAGATGATGGTCCATGCCGGTGAGCAGTGAGGCCCGAGGACCCACAGTGCAAAAGGTTTGAACCGGGTCACTGCACCCCCTTCATCCTCGATTTCGTGATTTAAACGGCACTCAGGACTAACTCATCTTCCATTCCCAAGGCCTTTCCTTCTGGTGTCAGCAGAAGGGACTTTGTACTCCATAACATATGTTGCCCAATGGGCTTGCATGCCCACTGCCAAGTCCAGCTCCACCTCCAGGCCCTTGCCCTACTCTTCCTTGGCCTTTGGAAAATCCAGTCCTTCATGCCATGTATAAATGCCCTTCTCCAGGACGTCCCCCAAACCTGCTTCCCCTTCTCAGCCTGGCTTCTGGTCCAGCCTGTGGTTTCACCCACCATCCATGTTTGCTTCTGGTAGGGGAGCCTCAGCACCTCTGCCGCCCTCCAGGACCTCCTCCCTCACCTGGTCGAAGCAGTATGGTGTGTTCTGGAAGTCCACATGCAGCAGGTTGCCCAGCCCGGGCAGTGGCAGGGGGCCTGGTGGGTAGCGTGCAGCCCAGCGTTGGCGCCGGTGCATCAGGTCCACCAGGAGCAGGAAGATGGCCACTATCACGGCCAGGGGCACCAGTGCTTCTAGCCCCATACCTGCCTCACTACCAAATGGGCTCCTCTGGACACACCTGGCACCCCCACCCCACCAGGCACAGAGGACCAGGCAGGACACTCTCAGCACACCGAGCGCGTGACCCTTCCCTTATAAAGGGAGCTGATGATGGCCTTTGCCCTCTGCTGTGAGTGAACCTGCTGTGTTGACTGTGCTGCCAGTGGCAGAGTCAGGCCAGGGCGGGTATGGGCTGCTCCAGAGGTTCTTGCCCCTGCTTCCTGCTCCAGGCCCTTACCCAGGGTAGGCCGGTGGAGGGGCCTGGTCGGAGAAGTCACCCCCTCTCCCCACTCCAAGCTCCTGAAGCCTGCAAAGCCTTCTN	benign	327,797
Evaluate this variant at chromosome 22, position 42210563, gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities', 'Neurodevelopmental_abnormality']	TACCAGGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTGCCTGAACTGAAAGACATCAGCGTACATAAGATCTCATAGAGTAGCCAACACAACCATGAAATGACCTAGTCAAGACCTATCATTTTGACATCTCAAGACCCTAGGGAAAAGGAGAAGATCCTCAAACTTTCCAGAAGAAAAACAGAACATGCATCAAGGGATGAAAAATTAGAATGGCAGTCTTCTCAACTGCAGCACTGGAAGCTAGTGGACAAACCAGGAAGAACGACTGCAAGACAGTGAGAGAAAAATCACTTCCAATCTAGAATTCCACACCTAGCCAACTCTCAATTAAGCATGAGGCTAGGATAAAGTCATGCTCAGATATATAGGATCTCAACATTTTTACACTCCCACACACCCTTTCTCACAAAACTACTAAAGGATGATGCACGCCCTTAAATGAAGGCTCACTTTAAGAATGAGGAAGAAATGGGATTCAGGAAACAGAACATTCAATAGAGGAGAGAAAGAAATGAAGATGATGATGTTGATGATCTGCCCCAGGATAAGTTATGAAACAGATCCAAAGAATAAATATCCTAACTGGAAAGTGTGCGTTAGAAAAGATGTGGCCCAAGAAACTTGAAATATAATAATATGCTTCATAAGCATTATACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTAGTTCAGGGATTTGTAACTCCAGCTCAGGGCCACCTTCTGAAGTGGTGGGCACGGAGGGCTTCGAGTCCAAAACAGTCTTTTCACTGCTGCCCTCAGTGGCTGCTTTTTTACAAGGGAGCCCCCTGGACAGGGACCGAGGGCCTCCACCACAGTCTTCCGAGCGGTGGCGCCGCTTAAACCTGGGGTGTGCGGCCAGGCTTCTCTGCTCCTTCTGCTGCTGCTGCTGCTCTTCCTCCTCCTCAGTGTCCGTCTTGGAGCCATTAGAAGCACTTTTGTGCCGTACCTTAACTTTGCTCTGCATTTCTGTGGCCCTCTTAGGAGGTGGATTCTTCGGGAGAGTGGCTGCATAATCTTGGGGATAAAAAGGTCCAAAGAGGTCACCCATGTTCCGGTAACTGGCCCACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGAC	TACCAGGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTGCCTGAACTGAAAGACATCAGCGTACATAAGATCTCATAGAGTAGCCAACACAACCATGAAATGACCTAGTCAAGACCTATCATTTTGACATCTCAAGACCCTAGGGAAAAGGAGAAGATCCTCAAACTTTCCAGAAGAAAAACAGAACATGCATCAAGGGATGAAAAATTAGAATGGCAGTCTTCTCAACTGCAGCACTGGAAGCTAGTGGACAAACCAGGAAGAACGACTGCAAGACAGTGAGAGAAAAATCACTTCCAATCTAGAATTCCACACCTAGCCAACTCTCAATTAAGCATGAGGCTAGGATAAAGTCATGCTCAGATATATAGGATCTCAACATTTTTACACTCCCACACACCCTTTCTCACAAAACTACTAAAGGATGATGCACGCCCTTAAATGAAGGCTCACTTTAAGAATGAGGAAGAAATGGGATTCAGGAAACAGAACATTCAATAGAGGAGAGAAAGAAATGAAGATGATGATGTTGATGATCTGCCCCAGGATAAGTTATGAAACAGATCCAAAGAATAAATATCCTAACTGGAAAGTGTGCGTTAGAAAAGATGTGGCCCAAGAAACTTGAAATATAATAATATGCTTCATAAGCATTATACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTAGTTCAGGGATTTGTAACTCCAGCTCAGGGCCACCTTCTGAAGTGGTGGGCACGGAGGGCTTCGAGTCCAAAACAGTCTTTTCACTGCTGCCCTCAGTGGCTGCTTTTTTACAAGGGAGCCCCCTGGACAGGGACCGAGGGCCTCCACCACAGTCTTCCGAGCGGTGGCGCCGCTTAAACCTGGGGTGTGCGGCCAGGCTTCTCTGCTCCTTCTGCTGCTGCTGCTGCTCTTCCTCCTCCTCAGTGTCCGTCTTGGAGCCATTAGAAGCACTTTTGTGCCGTACCTTAACTTTGCTCTGCATTTCTGTGGCCCTCTTAGGAGGTGGATTCTTCGGGAGAGTGGCTGCATAATCTTGGGGATAAAAAGGTCCAAAGAGGTCACCCATGTTCCGGTAACTGGCCCACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACNN	pathogenic	327,817
Regarding the variant found on chromosome 22 at position 42210568 in gene TCF20 (transcription factor 20): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities']	GGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTGCCTGAACTGAAAGACATCAGCGTACATAAGATCTCATAGAGTAGCCAACACAACCATGAAATGACCTAGTCAAGACCTATCATTTTGACATCTCAAGACCCTAGGGAAAAGGAGAAGATCCTCAAACTTTCCAGAAGAAAAACAGAACATGCATCAAGGGATGAAAAATTAGAATGGCAGTCTTCTCAACTGCAGCACTGGAAGCTAGTGGACAAACCAGGAAGAACGACTGCAAGACAGTGAGAGAAAAATCACTTCCAATCTAGAATTCCACACCTAGCCAACTCTCAATTAAGCATGAGGCTAGGATAAAGTCATGCTCAGATATATAGGATCTCAACATTTTTACACTCCCACACACCCTTTCTCACAAAACTACTAAAGGATGATGCACGCCCTTAAATGAAGGCTCACTTTAAGAATGAGGAAGAAATGGGATTCAGGAAACAGAACATTCAATAGAGGAGAGAAAGAAATGAAGATGATGATGTTGATGATCTGCCCCAGGATAAGTTATGAAACAGATCCAAAGAATAAATATCCTAACTGGAAAGTGTGCGTTAGAAAAGATGTGGCCCAAGAAACTTGAAATATAATAATATGCTTCATAAGCATTATACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTAGTTCAGGGATTTGTAACTCCAGCTCAGGGCCACCTTCTGAAGTGGTGGGCACGGAGGGCTTCGAGTCCAAAACAGTCTTTTCACTGCTGCCCTCAGTGGCTGCTTTTTTACAAGGGAGCCCCCTGGACAGGGACCGAGGGCCTCCACCACAGTCTTCCGAGCGGTGGCGCCGCTTAAACCTGGGGTGTGCGGCCAGGCTTCTCTGCTCCTTCTGCTGCTGCTGCTGCTCTTCCTCCTCCTCAGTGTCCGTCTTGGAGCCATTAGAAGCACTTTTGTGCCGTACCTTAACTTTGCTCTGCATTTCTGTGGCCCTCTTAGGAGGTGGATTCTTCGGGAGAGTGGCTGCATAATCTTGGGGATAAAAAGGTCCAAAGAGGTCACCCATGTTCCGGTAACTGGCCCACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCA	GGGAGCCCCAGAGTTCGAGAATGCAGTAAGCTGTGATCGCACCACTGCATTCCAGCCTGAGTGACAACAAAACAAAACAAAACAAAACAAAACCAAAACAAAACCCACATACAAAAAAGATTAGATGATAAAGCTGAAGAAAGCATAGAGAAATCAGAACAAAAAGATAATGAGATAAAACATAAAACAGAGGAGAAAAGATAAAAACAGCGGATCAATCCAGGAGGTAAAATGCCTTATATTAACAGGAATTATAAAGAGAGCAGAGAAAATAGAGGGAAGGAAATTTTCAAAGAACTACCACATGACAAATTGCCTGAACTGAAAGACATCAGCGTACATAAGATCTCATAGAGTAGCCAACACAACCATGAAATGACCTAGTCAAGACCTATCATTTTGACATCTCAAGACCCTAGGGAAAAGGAGAAGATCCTCAAACTTTCCAGAAGAAAAACAGAACATGCATCAAGGGATGAAAAATTAGAATGGCAGTCTTCTCAACTGCAGCACTGGAAGCTAGTGGACAAACCAGGAAGAACGACTGCAAGACAGTGAGAGAAAAATCACTTCCAATCTAGAATTCCACACCTAGCCAACTCTCAATTAAGCATGAGGCTAGGATAAAGTCATGCTCAGATATATAGGATCTCAACATTTTTACACTCCCACACACCCTTTCTCACAAAACTACTAAAGGATGATGCACGCCCTTAAATGAAGGCTCACTTTAAGAATGAGGAAGAAATGGGATTCAGGAAACAGAACATTCAATAGAGGAGAGAAAGAAATGAAGATGATGATGTTGATGATCTGCCCCAGGATAAGTTATGAAACAGATCCAAAGAATAAATATCCTAACTGGAAAGTGTGCGTTAGAAAAGATGTGGCCCAAGAAACTTGAAATATAATAATATGCTTCATAAGCATTATACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTAGTTCAGGGATTTGTAACTCCAGCTCAGGGCCACCTTCTGAAGTGGTGGGCACGGAGGGCTTCGAGTCCAAAACAGTCTTTTCACTGCTGCCCTCAGTGGCTGCTTTTTTACAAGGGAGCCCCCTGGACAGGGACCGAGGGCCTCCACCACAGTCTTCCGAGCGGTGGCGCCGCTTAAACCTGGGGTGTGCGGCCAGGCTTCTCTGCTCCTTCTGCTGCTGCTGCTGCTCTTCCTCCTCCTCAGTGTCCGTCTTGGAGCCATTAGAAGCACTTTTGTGCCGTACCTTAACTTTGCTCTGCATTTCTGTGGCCCTCTTAGGAGGTGGATTCTTCGGGAGAGTGGCTGCATAATCTTGGGGATAAAAAGGTCCAAAGAGGTCACCCATGTTCCGGTAACTGGCCCACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCAN	pathogenic	327,818
The mutation impacting TCF20 (transcription factor 20) on chromosome 22 at position 42211501: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Intellectual_disability', 'TCF20-related_disorder']	ACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTAGTTCAGGGATTTGTAACTCCAGCTCAGGGCCACCTTCTGAAGTGGTGGGCACGGAGGGCTTCGAGTCCAAAACAGTCTTTTCACTGCTGCCCTCAGTGGCTGCTTTTTTACAAGGGAGCCCCCTGGACAGGGACCGAGGGCCTCCACCACAGTCTTCCGAGCGGTGGCGCCGCTTAAACCTGGGGTGTGCGGCCAGGCTTCTCTGCTCCTTCTGCTGCTGCTGCTGCTCTTCCTCCTCCTCAGTGTCCGTCTTGGAGCCATTAGAAGCACTTTTGTGCCGTACCTTAACTTTGCTCTGCATTTCTGTGGCCCTCTTAGGAGGTGGATTCTTCGGGAGAGTGGCTGCATAATCTTGGGGATAAAAAGGTCCAAAGAGGTCACCCATGTTCCGGTAACTGGCCCACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTA	ACATTTCAAAAAATGAAAAACGATTTTAGAAGTCTATACAAATCTTCCAAATTACCTATTTCATTTTCTGTCCATCACATGGGCATAGGCACTTTAATTTGGAGGAATAATCATGTGACATGTAAGAACAAAAACATGCAAGAAAAGGAACCAAATGAAATAAAAATCCCAAGCTGGTAAGAGATTTCTCATACTCACCATCTCTCTGGCTATTTCCAGCGCTTCCTGCAGGCCATAGAGCCTGCCACAAACCAGGTAGATTCCATTGGCCCAGAGAATACAACCCTCATGGACCCAAAATTCATTGCTGTCAAGAGGTAGTTCAGGGATTTGTAACTCCAGCTCAGGGCCACCTTCTGAAGTGGTGGGCACGGAGGGCTTCGAGTCCAAAACAGTCTTTTCACTGCTGCCCTCAGTGGCTGCTTTTTTACAAGGGAGCCCCCTGGACAGGGACCGAGGGCCTCCACCACAGTCTTCCGAGCGGTGGCGCCGCTTAAACCTGGGGTGTGCGGCCAGGCTTCTCTGCTCCTTCTGCTGCTGCTGCTGCTCTTCCTCCTCCTCAGTGTCCGTCTTGGAGCCATTAGAAGCACTTTTGTGCCGTACCTTAACTTTGCTCTGCATTTCTGTGGCCCTCTTAGGAGGTGGATTCTTCGGGAGAGTGGCTGCATAATCTTGGGGATAAAAAGGTCCAAAGAGGTCACCCATGTTCCGGTAACTGGCCCACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTANN	pathogenic	327,830
Regarding the variant found on chromosome 22 at position 42212222 in gene TCF20 (transcription factor 20): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities']	CACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACT	CACTTGCCACACAGACAGCAAACCAGGTGCCCCATAACCGAAGACTCTGTCACAACAGGTCCCTGCAGCATAAAGGACGAGGCCGGGAGCGCCTTGCTTTCAGTGCTGCTAGGTGGAGGGGTCAGTGACCTCTGACCCTTCCTGCCCCTCACTAATTTGGTCTGTTCTTCTTCCTCAGCATTGATGATTGTACAAACGGCTCCAAGTTCACACTTATTTACTACATGGATGTAAGGGTAAAAAGACTTGTTCTTGGCATCAGTTTTATCCAGTGGCTGGGTGGCATATTTTAGTTTGATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTAC	pathogenic	327,839
Located at chromosome 22 position 42212518, the variant affecting gene TCF20 (transcription factor 20)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Inborn_genetic_diseases']	GATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGG	GATCTCAGGTTCTTGGGGTTCCACAATGGGAACTGCTTGTTTGGTTTTTCGCTTCCTCGGCTGGGCCCCAGGCTTCCTTCTCTCCCTCCTTTGCCTCTGTTTTTTTGGCTTTGGCTCTCCATCTGCAGAACCTTCTGGTATCTGTGGGGGCTGAGGGGGTGGAGGCGGTGGCTGCTGCTGTTTCTTTTGCTTATTCACACTACCAATGGGTCTCCCCTTCTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGNN	pathogenic	327,844
A mutation at chromosome position 42212737 on chromosome 22 in gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities']	CTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGC	CTTCTTTCCTGATGGGAAATATCCCTTTGGAGGGAAACCCTCTTGCTTCGGTGAAATCGTCACTGTATCGTTCTCCTTCTCTTCAGCCTTGGGGTTTGCCTCAGGGGCCAATATGCCCACTGGAGGTACATTCTTTGAGTCTGGAAAGATTAAAGGTGCTGTTCCACCCAGGGAACCATCTGGTCTCCCTTGGTTACTACCAGGCTTCTGTGAGGTTGTGGATGTCATGGCACCAGGGGGTTCCTTTCCGGCAGTAACTGTTTCTGCATGTGTCTCTGTCTTCACTTTGTCATCCACGCTGCCACGCCACTCTTCTGAAGACCTTGGAAGAGGTTTCTCTACGTGCAACTCCTGGTTTGCTGGACTGACTAGGTCCGAAGCCACCTCACCTTTTCTCTTCTCTATGTCAGCATCCTGAACAGCAACACTCCCACCTTCAGGAGGACCACTCTTCAAAGACAGTATATCATCAAGCGTAACCGTGTCTCCCCCAGCCTCCGCACTGTTCGAAGATGCGCTCCTCCTAATATTTGGGGATGTAATCTTCTGAACTATAGCTTCCAATTTCAATCCCCGTCCTTTCCGTGGGGGCAGTATTTTGGTCTTAGCAGGGCTTGTGAGGGTAACAGCAGGGCAGTTTCTACTATCTGGACTTGGAAGGTCCTTGGAGGAATCTCTCTTAGGGATAGACTTGATATCCTGACTGTGAGAAAGATGGGCATAGGAATTGAATGCTTTATCAGCGCCTTCTTTTGATGAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTG	pathogenic	327,846
Is the genetic change at chromosome 22, position 42213494, within gene TCF20 (transcription factor 20) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Autism', 'Intellectual_disability,_mild']	GAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAG	GAGTGAAGGAGGCGACCTTTATCTTCAGTGCTACTGTTCTTTACATCTTGTGACTGTCTCTTACTGGGAATGGGAGAGATAAAAGAACGAACACGCCTCCTCATGATTAAGGGGTTTTGAGAAGAATGATCCTCCTGGCCTGGAAGTCTCAGCATAACACTACCAGGTTTGGATGACTGTGTAGCCTCAGCTAGTCCATGTCCATCAGTCTCATGGGGCGGCCCATACCTTTTTTGACTGGACATTCCTGGAGGACCGCTGCTTTTGGCTGGAGAAGTTTGCCGAGAAAGATCCCAACAGGATTCTTGTAACTTCTGGGAGCCATGCTTTAATTCCATGCCCTTGTTAGGCAGACCATCACTAGACATTAGGCAGCGCCCAGCCTCCTGGGCACTGGGGTCATGGTAAGTCCCCACTGGTGGGCCATACATCATACCATCTTTGTCATTTTTCAGAGGGCTCCGTACTCTGTCAAGAAACTGCTGCTGCCTTGGACTCTTCCGTGGCCCCTCCTGCCTGTGCTGTGCTGCAGCAATTACTCCCTGAGCAGAACCGCTGCTCCAGTCTTTATACTCCTCTGGTTGCTGTTGGTACATCTGTCTCTTATAATGCAGCTGAGAATTCAAACCTGCGTTAGGGTCCCCATAAGCATGAGCCCGAGTATTTGCATGATAAGCAGAGGCCAGGGTTTCTGAGTTGGGAGAAAAGGGAGTGTGTAAAGAACTCCGGTTAGCCCTCTCTGAAAAGGTCATGTGTGGATTCATGTGATGAGGGTCTCCCCCTGGGCCTCTGCTCCGCCCAGGAGACATTTTCAATTTTTCTGCAAAGTCATGATATTGAGAAGGGGACCGACCCCTCATGCCCTCCCGACCACCAACTCTGCCAGGGACCCGCCGCATTGGCGTGGGTCTGCTGTCTTGCGGGCCATAGTCTGAAAGGGAATCATGGGTTGCTGCTCCAGGGCTGGCATTGCCGCGGTAAGACTCATGCTTGATGCTAGGAGGATGGCAGTGGTCTCCAGATTTCTTGTTGTTGAAACTAGCTTGAGATTTAGACTGTTCAAAGTCTTCCTCTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGNN	pathogenic	327,858
Evaluate this variant at chromosome 22, position 42214566, gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, what are the disease connection(s)?	benign	CTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCC	CTTTTATCTGCCCGCTCTGGGATTTCAGCTTGGTTTCCATGGACACCAAACCACCAGGAAGAATGACCGACTGACTTAAAGTTGGATTGAGACGGTCATTCCTCCCAATTCTGGTGTCGGCACTCATGTGTCCCAGTGAGTGAGCCCCTGGGTCCCTGACAATCTGTCTTAGTGGAGAAATATCACAGATCACTGATCTTCTTTCAGAGAGGGAACCCCCAGGCTCATGTGCTGATGACTGAGGCTCTATTTCAAACTTTCTGGGAATTGGATAGTCAGTCAAATTGATCTGTTTCATTTCAGGAGCTGTGCTGCTTGATTTCCTTTCCCAGGGGCCCCAGTGGGGATTTTCTAATAGAGACCCAATGCTTTTGTTCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTT	benign	327,871
The mutation in gene TCF20 (transcription factor 20) at chromosome 22, position 42214941—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Developmental_delay_with_variable_intellectual_impairment_and_behavioral_abnormalities', 'Neurodevelopmental_abnormality']	TCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTAA	TCAGAAGGCCCCTGCTAGCTAATTCATTGGTTTGACTAACCAAGACATTGGGCCTTGTGGTTCCTTCTAGGCTACCAGCCATCCCCTGATGCTCTTGAGTACTCCTAGAATATCTCCTGTCAGGGTGGTGGTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTA	pathogenic	327,874
Mutation found at chromosome 22 position 42215071, gene TCF20 (transcription factor 20): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	benign	GTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTAATAGACAGTTTAGTTTAGTTACAATGGTTTATGAAGCTAGTTTCCTAGTTCCCCTGAAGGGGAGCTGAAAATGGAGTTGCCTGCAGGAAAGTCAACAACCTTTTTAAAGGTAAGTCAGATTTATCCTCTCC	GTGGTAACCCTGAAGCACTTCCTGCAGGAGGCTTGGGAATTTTTCATTTCTACCCTTTCGTTCCCCATGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTAATAGACAGTTTAGTTTAGTTACAATGGTTTATGAAGCTAGTTTCCTAGTTCCCCTGAAGGGGAGCTGAAAATGGAGTTGCCTGCAGGAAAGTCAACAACCTTTTTAAAGGTAAGTCAGATTTATCCTC	benign	327,878
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 42215138, gene TCF20 (transcription factor 20). What disease(s) is it linked to if pathogenic?	benign	TGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTAATAGACAGTTTAGTTTAGTTACAATGGTTTATGAAGCTAGTTTCCTAGTTCCCCTGAAGGGGAGCTGAAAATGGAGTTGCCTGCAGGAAAGTCAACAACCTTTTTAAAGGTAAGTCAGATTTATCCTCTCCAATCCCTGGAGTGGCTCCCACCTCATTCTTTGGGAAACTGGTCTCAAAGGCCCCTGCTCCCACCCCC	TGGCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTAATAGACAGTTTAGTTTAGTTACAATGGTTTATGAAGCTAGTTTCCTAGTTCCCCTGAAGGGGAGCTGAAAATGGAGTTGCCTGCAGGAAAGTCAACAACCTTTTTAAAGGTAAGTCAGATTTATCCTCTCCAATCCCTGGAGTGGCTCCCACCTCATTCTTTGGGAAACTGGTCTCAAAGGCCCCTGCTCCCACCCCCNNNNNN	benign	327,883
A genetic alteration at chromosome 22, position 42215140, in gene TCF20 (transcription factor 20)—benign or pathogenic? If pathogenic, which disease(s) is involved?	benign	GCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCACTGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTAATAGACAGTTTAGTTTAGTTACAATGGTTTATGAAGCTAGTTTCCTAGTTCCCCTGAAGGGGAGCTGAAAATGGAGTTGCCTGCAGGAAAGTCAACAACCTTTTTAAAGGTAAGTCAGATTTATCCTCTCCAATCCCTGGAGTGGCTCCCACCTCATTCTTTGGGAAACTGGTCTCAAAGGCCCCTGCTCCCACCCCCTT	GCCAGTGAAATCTCCCTTTTCTTGCCCTGTAGGATACTGAGGAAAGCCACTGACATTTCGTGGCACGGCTGACCCGAAACTATCTTTGTAACTATAGCGCAGACTTCCAGGAGATTTGCTAGGCTCAGTTCTGCTCGTAAAACCAGGGCCCGCTGCAGAGTGGCCACTCTGGCCATTTCCTTCTCCATTATGGTTGGAGTTGTTATCGCCATTCTTGTTTCCTTTGCTCCCTCCTCCTCCTGGAGGCTCTGGCTGGGGAAGTGATGCATGACTGGTTTCCTTTGCCCCACCATTGCTAGGTGGCCTTTGAGTGGCTGCAGGATCATCCTCTTGGGAGCCTTTATCTTGTCCACCAGGCTTTTCTACCCGACCTGTCATGGCTTCCCGGGAGACAATCACCCCAACAGTCTTCTCATTAACCTTTGGGTTCCCGTCGGATGACAATGGCATGTCCTTAGCGCCTGGTGAGGTGGCCTCTTCTCTTGCGGCAGGACTAGCATTGAGTCTGGGGGGTTCATTCTGAGCACCTTGTGCCGGTGAGGAGCCAGCTTTCTCAGAGGCTCCACCCTTGTAGGTGGTGTCAGAGCTGGTGCTCTGGCCACTTAGTTGCCGCACTCTCTCGCCTTGATCCTCTGAACTGCTGGAGCAGCCTCCATCTAATGACTCTGCCATAGGGGACTTCAGCTGTTCTTCAGGTTGTGAGGAGCCTTCAGAATTTGTGCAGCTATCTGCTTTCTTGGAAGATGAGGGCCTCTTGGAGGTCTTCTTCTGAGGAGTCAGGGCATCAGAAAGTAACATGTGCTGGACAGTGTTAGGAAGATTGGCCACTTGAGTACTCAGAGCACTCAAACTACTCAACCCAGGATCTGTCAGTCGCTTTTCTGGTACCCCTTCTAGTCCAAACCCTTTGAAGCCTGCAGCATGAGAATTAGGACTGGGCATCATTGATGGGGTTGGACTGAGTTGAGGCATTAACTGTAAAATTCTGTTTCTGGAACCCATAGGCACACTGCCTTGCCCACACTGGAGATTCTCCCCAGTCTGCATGAGAGGAGATGGGGTAGAACTACAGCTTGGAGACTGAACCACAGAGGCAGCTGGAGAAGGGTTAGAAATGGGGCTGAAGTTCTGGTGAAACTGCATGGGGGACCTCACAGGAACCTCAGGCTGGTTGTACTGCCCCACTTGGCTTTGCAGGGGCAGCTTGGTGGCAGCGTTAGTATACTGCATCACATGCTGAGAAGGGTGTTGTTGTTGCTGCGGTTGCTGCTGCTGCTGCCCCTGTTGGGTCCCTTGTGGAATCTTTGCCTGTTCAAAATTCTTCATAGATTGAGGCTGATAGCTGTAATTGGATTGTGTTCCATAAGCCTGTGCATTAGAACCCACATTGTGTCCTTCATACTGAGATCCAGCATTCACATTGTAACTGCCATCATAGCTCTGTCCAGACTGGCTAAAACGCTGTGGTGAAGGGAAGGAGGAGGAGGAGGAGGAGGAAGCAGAAGACTGATAGTGTTGGCCAAACTGACCCACTCTTAACTGGTAACCAGCAGCAGAGGATGGCAGAGTTGAGGGCCGCTGCATTGGCTGTAGATGGGATGAGCTGGATGCTGGTTGGCCAGTGGCCTGTGGCAGGGGCTGATGGGACTGGTAAAGCTGTTGTCTCAACTGCTGGACTTGCTGCTGCTGCTGCTGGCTGGAAGCCTGCTGTTGGTACTGAGCACTCCCTGGAGAGAAAGGCCCAGTGTAATCCTGCTGATAATGTGACACACCGCCAAGGCCAGAGTGCTGTGCTTGAAACTGGCCCACATGACCCTCACTCCCATACTGATTGCCAAAGCTGCTCCCCTGGGGGGGTCCATAGCTCTGCACAGGCCCAGAAGGCCTTCGCTGAGGAGGCTGTGGGGTTCCTGTAGTCACGGGGTCTTTGTTGCCTGCCATGTAGTAAAAATCTCCAGCCTCTTTCCTGAAACCCTGGTAACCTTGATGGCCAGAGGTCTCGCTAGCCATCGCTGCCGCAGCAGCTGCTGCTCCTCGTCGTCCACCACCGCCACTGCCACTGCTGCCACTACTGCCACCTGTACCTCCAAAATTCTGGAACATCTGGGCCTGACGAGGGCTGAACTCTTCTAGCCGGGATGAGCCGTGTACCTCCTGTGGGTAGCTTTGCTGGTTTCCGTGGTAACTGCTTTGCTCCCGAAAGGACTGCATACTGTTCAGCAGCACAGCAGCAGGCCAACAGCCCTCCTAGAAATAGAAGAAAGAAAAACATTAGACACGCATCTCCTTGGTACAAATAAAATCAAGTCTAGATGATGGAGGGAATAAAGATGAATCAGAGGCCCAGATGAAGCTGACTGGTTTGAATTTCTATTTTTTTTTTTTGGTTTTTTGAGACAAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATTGCACGATCTCAGCTCAATGCAACTTCTGCCTGCAGGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCATGGCCACCAGGCTCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACTGTGCTGGCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCACGCCTGACCTTGAATTTCATCTTTTATATTTTATCCTATCCACTTCTGAAAATGCACATATGCAGAGAAATGGCCTAAAGAGTGAGGCAAGAATCTGTAGTAGAATGAAAAGCAGCACTCTGAGTGCATACAAACCCAATACAGCAAAAACATGTATGTCTCATATATCTAATAATGCCTTATTAGACAAATGAGCCCCCAAACTCAACCAGATTAAAATATGGGGCTGTGTTATTACTGTCAATGAAAAACAGCAATTTTTCAATAAGCCTCCCAGTTATGCGGGGGAGGGGGTGTGGGGTAAGAAAAACCAAATCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAGGTCTCACTCTTGCCCAGGCTGGAGTGTGCAGGGGCACAGTCGTAGTTCACTGCAGCATCAAACACCTGGCTTCAAATGATCCTCCTGCCTCGGCCTCTCAAAGTTTTGGGACTACAGGCATAAGCCACTACTTTCATTTCTCTGCTTTCATGTATTAGGGTGATCACTGAACTGCGGGTTTTAACACTGGCTGCTGATCGCCACTCCCCAACACTGAGAAACAGACCTGGCCAGAGAACTGCAGCCAATTCCTTATGTCCAAGTGCAAATTTTTGCAGCTTTACTATAATTGCCAACTACCTGTGATGACTGGTGACTCCAGGACACTCAGCCCATATGGGTTCCACACAAACTTTGGAGTCAACCTCTTCTTGGCATATGACTGTGTCTACAGCACCCCTCTCTCCACCACTCTCCTTCAATTCCCAGGTACAAAGGGCTAGACTTAAGCCAGTGAATAGCAGTGACTATTCTTCCAGATTATTTTGGGAGGTTTCCAAGAAGTTCCAGCACCTTTACCCGCCATGTGGTATTTGTATTTGCCAGTTTTTTAAATTCACAGTTATTACTGGCCATTACTATGAAAGAATTAGAAGCAATCATCTTGGAGGACAGCAAAAAACAGAGAGGAAAATAGGAATTCATCAAGCCTAGGACCCAGACTCTTTCAAAGTTATCTGACTGAGCCACCACTTTGTATTACCTATTATAATCCCTCTTAATCAATCAAGCTGATTTTTTCCCCTTTCACCTGGGCCTGTCTCCTCAGAGTCAGAGATGAAAGGGACAAGGCCAAATTGCTCCAAGTGACTTTAGAACCAATTACTTAAAAAAACAAGTTCCAAAATACATATAGGGTAAAGTGAGGTGTAATAGACAGTTTAGTTTAGTTACAATGGTTTATGAAGCTAGTTTCCTAGTTCCCCTGAAGGGGAGCTGAAAATGGAGTTGCCTGCAGGAAAGTCAACAACCTTTTTAAAGGTAAGTCAGATTTATCCTCTCCAATCCCTGGAGTGGCTCCCACCTCATTCTTTGGGAAACTGGTCTCAAAGGCCCCTGCTCCCACCCCCTTNNN	benign	327,884
Does the variant on chromosome 22 at location 46337791 affecting gene TRMU (tRNA mitochondrial 2-thiouridylase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	GGCGAAGTTGGGCGACTGGCGGATGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGG	GGCGAAGTTGGGCGACTGGCGGATGCAGGCCTTGCGGCACGTCGTGTGCGCCCTGTCCGGCGGCGTGGACAGCGCCGTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGNN	pathogenic	328,111
Clinical classification of chromosome 22, position 46337867, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	GTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTT	GTGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTATACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAAC	pathogenic	328,113
Is the genetic change at chromosome 22, position 46337868, within gene TRMU (tRNA mitochondrial 2-thiouridylase) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	TGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTTC	TGGCCGCGCTGCTGCTGAGGCGGAGAGGTGAGGCGTCCGAGGCTCCCGCCCCCCGCCGAGCGAATGTGTCCCCGGAAACCTGTCCCCGTCCGTCGTGGCGTTGTGCACGTCTCCTCCCTCCCTGGGCCGCTGGTTGCGCGCGGGTCGGCAGGAGGATACCCCGTCCTCTGACTTTGGTTCGGAGGCTCCTCGCCCTCCACCTGTGTAGTCGGAGGTGTGCGCGACTGCAGCTCCGACTACCTGGGAGCAGTTCCGCGCCCCTCTCCACCCACGCGCGCCCACCCACAGTGAGAAGCCGGCGGGCCGGGGTGGGGTGGGGAGGGAAGGGTTTCTCACGGATCTGCGGCGTCCACATTCACCTGTGAGACCGTGGACACTGGTGAGGGGAGCTGGGATCGCCGGGCCGGGGGCCTGACCTCTGCACACGCTGTGGCCGCCCGGTGGGAGGTCCTTGTCCTCCCCACTCAGCAGACTGGACAACTGCCGCGCGGCGGGTCTGCTTGTTCAGCGTCTCCTGTGTTCTCCGCTCGCTGGAGGACAAAGTTTTCTCCAGGAGCATTTGCATTTCTTCCGGCATCTAAACGGAGCCCCACGGGTGCTTAGCATTCCTCGGGCCCGGCGCTGAAATGAGCACTTGTTTAACTTCACCTGTGTGGCTCCCCGCGGGAGGCCTCATTCACAGAGTCACGTTTGTGGAGCTCTGCTTTGCGCCATCTTTGGCTCCTGACCTTGGGCAAGTGAATTAAGCCGTCCCCTGTAAAATTCGGCTAACACCTGCCTCACGGGGTGACTGGAGGGATTAGATGACATAGTACATACTGATGAGTACGTGCTCAGCACATACGAGGTACGCAGAAAACAGTAGTGGCTATTAGTTTATATTGTTAATAACCATAGCTATTATGGTAGGTACAGTAAGTGCCAAAGAGAAGGGTAGGCGGACCATAAGCAGAAATAGTTGTGAGGAAGGGAGAGTGGAGGAAAGCATCCTAGAGATGGAGGTGCTCAGCTGAGTCGAAAGAAGAGTAGGATGTCACTAAGCAGAGACTTGGAGGTGGAGGCGGCCCTCCCGGCACAGTCAGCAGTGCAAGCAGAATCACAGAGGCCTGCAAGTGTGGGCTGGTTCTGGCCAGATGGAGATGGAAGGAGAGGAGCCTGGAGCACGTTTAGCCCTGATTATGGAAGATGCTATACCAGGGGCTTTAGACTGTTAGGTAGACATTAGTCTGGTTGATCTGGGATAGGGGTGGTCTTTCGCGTGTGGTGGTGTAGTTTTGACAAAGCTTTGTCATCAAATTTCTGTTGTTTTGGGTACTATATGAAGCCTTCTTCAGCAGTCATTTGCCCTGTCTTTCATTACATTCAGCCTACCTAAACGAACCAGCTTTCTCATACAGGGTCTGCACCTGTGTAGTTTGCTAAGGTGGTGTAGGGCTAAAGTTGGCCTTTCCAATATTTGGGTGAATATTTTGTTACAATCGAAAAGGTAGAAAATAGGTCATAAACTAGGTGGTACAGCTCTTACAAAATATCGAAAATTTTAATTATCTTTATATCTGATCACTTAGAATCTAAGTCTTAGATAGTAACTAGAAATAACTTTTGAAAAGAGTTTCCTTTTTTGATAACTGAATGGTGCTTTGAAAAATTTTGTTGAGTTTCGACTATTCCTTCGTGTATTCCACACACACTGGCTGATCCCCTCCTGCTAGGTATTGTGCTGATACATAGATGGGGACACAAAGATGAGAAAATACCACCTCGTTAATCTTGGGGACTCAGGCACCAAGATGGAAACCGGATCCCTGAAGCCACATGGCAAAGCAGGGACTGCCCGGCAGGCCAGGCACAGAGGCACAGGAGCACAGCGTGTGGGGAACTTCTCAGAGCTCAGAAATCACTGCCGTTTTACCGAAGGTTGATTTATGTATTCTCTTTAATTGACCTTCCCGCCCGCAGGTTACCAGGTGACAGGGGTGTTTATGAAGAACTGGGACTCACTGGATGAACATGGGGTCTGTACTGCCGACAAAGACTGTGAAGATGCTTAACAGAGTTTGCCAGATCTTAGACATCCCTTTCCATCAAGTGTCCTACGTAAAGGAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGCACAAAGGAAGCTTCCTCACACTGTGGATCCTTGCAGTGGAAGGATCCGGTAACCAGCCAGACCGACGCCTGTGCTGCAGCCCAGCGCTCTCCCTCCACGGTGGTGCTGAAGACTGCAAGAGGCCTCAGCCACCCTCGGGGCTCTGTGTTAGAGGCGAGGCCTGGACCCCACAGCACACCCAGCTCTCTCACTCCTGTCATTTTGCCACTTGCCTGAAGTCTCTTTAATGCTTTCTTGGACCTTGAGCTGTTTCTGTTGCCCAGTTAGGATAGGGGAGCTAAGGCTGAGGGCTCCCCTGGAAGGTGAGCACCAATGCCTGTGTGCTATGTGGGTCAGCGATTAGGGGATTTCTGAGAAAGAGGTGATACATGGCCTGTGCCTCTGAAAACAAGAAACAAACAAAAACTTTTCTAAAATCCAATATAATCTCAATAATTAAGTGCTGTGTGCTAGGCGTGTGCCACATCTAGGAACATTAAGATGTCTTCACTGTGACCTGGCTCTGTAGGAGTTTGCGGTCTAGTTGGGAGGACATTATCTTCACAAGAGGTGACAGTGATGCGTGGCACGCAGGAAGTACCAGTGATGCTATCAGTCACTGAACCCAGAGGAGGGAGAAACTTGCAGTGTGGAGTAATCAAGAAGGCTTCACCGGAGAGGAGGGGTTGCAAACAAAGTTGTAGAGAAGGGACTCCAAATGGGGTAACGAGAGCAGCGTGAAGGGGAGAAGAAATGCTGATTGTGTATTTCAGGACCGTTGTAAAGTTTGGCTGGACTTTTGTTCCTGCAGTGGAAGGAGTGTAGGGCTCATCCTCTGGTGAGCCCTGACTGTGATGAATGTCGGGCAGTTGTCGAAGGCGTCTGACACAGCAGGCCATGTGCGCGGGACAGGCTGCCCCTGCCTGAGTGGGCTTTAGGGGCAGAAGAGCCTTGGGTTGAGTCCTGACTGTAGCTTATTATATGACCTTGGGCAATTTACTTGACTTTGTTTTTTTAATTGAAAAAAATTCTCTTTTTTTCCTGCCAACAAAGACCCAGAAGAGATACTTGACTTTTCTAAGCCCCAATTTTCTCATCTTTAAAATGAGGATAACACTGATGCCTCACAGGGTTATGAAAGAATTGAGATTAGGTTCTAGTATGTATGCCTGGTATATTAGTAAGCAGTCAATAAACATAGCTGTTTTTCTTTTCTATTTTTTTTTGAGACAGAGCCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCAATCTTGGCTCACTGCAACATCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACCACGCCCGGATAATTTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCGGGCTAGTCTCAGACTCCTGACCTCAGAAGATCCACTCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCAGCCTGCTATTTTTATTTTCATTATTAAAAAGATGAGTCTGGGGAGCTAAGCTATGAGGACGCAAAGGCATAAAAATGATATAATGGACTCTGGGGTGAGGGATAAAAGACTACACATCGGGTACAATGTCCACTGCTTGGGTGACGGGTACACCAAAATCTCAGAAGTCACCACTGAAGAACTTATCCATGTGACCAAATACCAGCTGTTGCCCAAAAAACCATTGAAATAACAATAAAACGAAATTTAGAGAGATTAAGTAAATTGACTATGGTCACCTAAATAATCAACGGAAGAGCTTGAATATGAACCCTCTGTGACTCTATGCTATAACATATGGGTGTCGTATATATTAACAACATGGACAAAACTGATGGCTGAATTTTCCTGGGGAAAGTTACCTGTAGAATGCATGATAAATGCATTAAAAACTTATCTGTAGAATGCATGATAAATGCATTAAAAACTT	pathogenic	328,114
Does the chromosome 22 mutation at position 46343269 within gene TRMU (tRNA mitochondrial 2-thiouridylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Aminoglycoside-induced_deafness']	GTGTCTTTTCAGAAACTGATTTTAATGTTCAGCCTCTTCAACATTTATTGATGACTGTGATATAGAAAGTTTGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTCTGCAAAACACAAACCTCTTGATCAGCACTGGTTTTTTTTTTAACCCTTGTTGATTAATAGAGAGTTTTAGGTTAAATGAAAAAAATCACTTATACCAAAAATACACCCATTTTTAAACTCCCAAAATAGGCATCATAACCCTCTTGAAGTGAATCCTCGAAGACTATGAAATTCTTGGTAAGTTTTGCTGGTATCATGGCATCTTTTTCCCATGTTCAGTCAGTCTGTTAGAGCAGAAGTTCACTGAATTAGGATAGCCTGATCCACTTTAAGCACCCAAGAGTTTGCTAGTTCTCAGAAGTGTGTGTTTGTCACCTGAGGATAGTATTTTTGGTATATTTGCCCAGTGACGCAGCATTCCAGGCTGAGATTGCAGAATGGCTCATGGAGCCCTTGTGTAGGGAAGCCTCTGACTGTGTTTCTCCTCTGTTCTCATCACGGCAGTCATCCTCACGGAAGAAGGCTTCTGTGACAAAGGTGTGGGGGGTTTTCCCCATACAGCAAGCAGTGGACACCGACTGGGTGTCCTCTGATTCAGTTCCGATACCATCTACTTGGAGATAGTGCTGGATCCCAAAGGTTGGGGGTTCAGTCCCCCAGACGGACTCCCCCCACAACAGCAGTCGAAAGTATGGGCCTCTAGAACTTATGACCAACTGGCTTCCAGTTGGGATTCCCATAACTTCCTCTTTGGGTTCAATTATTAATAATTTGCTGGAGTGGTTCACAGAACTCAGAAAAACACATTTACCAGTTTATTATAAAGGATGTTGCAAAGGATACAGATGAAGAGACGGGTTGGGTGAGGTATGGGGAAAGGGTCATGGAGTGTCCACACCCTCCCTGGGGACCACCCTCCAGGAGCCTCCACAAGTGTAGCTGTGCAGAAGCTCTCTGAACCCAGTACTCCTGGGTTTTTATGGAGGCTTCATGACATCGCCATTCCTTCCCCCAGGATATACAGTGGGACTGTGTCTGGGGAGGGTCTTAAGACCCACAGTCAGAAAGGTAGACGCTTGTAATCCTAGCACTTTAGGAGGCTGAGGCAGGAGACTTGCTTGAGGCCTGGAGTTCAGTATCAGCATGGGCAACATGGCAAGACCTCATCTCTATAAAAAAAGAAAAGGTTGCAGTGGGCCAGGTGCGGTGGCTCACGCCTCTAATTCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGCTGCGCACCTGTAATCACAGCTATTCGGAAGGCTGAGGTGGGAGAATCTGCAAGGGAAGTCTAAAGGATTTCATTTCCACTGTCACTCAGGCATCTTCTCTTCCTCACCTAAGCCCTGCTGTGTTGGAGGAGTCCCAGAGGCAGGGTTTTAGTGAGACCCTCACGGCCACTCCCCACTCCTGACCCCATAAGCCCTGTGAGCCTACACAGAGACGGTGGCTCCTGAGCCGTAGTGGCAGAGAATAACACCTTGTCGGGTGGCCCATGCAGCAGGTTATAAACAAATGTTCGATGACTGACGTTCTCCTGTTTTGCAGAAAATTATAGTTTTGGTATGACAAGGGGAAATTACATTAAACAAGCAATTTAGTGAACTTTTTTTTTTTTTTTGAGGAATGTTTCACACTTGGAACTGAAGTCATTTTCTTTTATTCTAGTGACTTTTTGAATGAGTATGAAAAAGGAAGGACTCCCAATCCTGACATAGTTTGCAACAAGCACATCAAATTTAGTTGCTTTTTTCATTATGCTGTGGATAATCTTGGTAAGTAATTTGGGTTTAAAACATTTTTTTTTTTAAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGATTGCAGTGGTGCGATCATGACTCACTGCAGCCTCGACCTCCTGGGCTCAAGAGATTCTCCCACCCCAGGCTCCTGAGTAGCTTGGACCACAGGCATGCCACCATGGTGGCTAATTTTTTGTGGAGATGGTGTCACAACTGTATTGTCCAGGCTGGTCTCAGATTTCTGGCCTTAAGCAGTCCTCCTGCCTCGGCCTTCCAAAGTGCTGAGATTACAAGCGTGAGCCCCTGTGCCTAGCCTGTTTCTTCTTGTGGAACCTCCTGATACTGAATTGCTTGCTTAGACCACCTCTTGATGTCTGTGGCTATGCTTTATGAATTTTAGGTTCTTCTTCCTGTCCCCTGCCATTGGGGTCACCATAATGAGTTTCTGAAGTTCTGGCTCAGGCTTCTTGGTTTGCTCTGTCCCACTGCAGCTCACCCTGTTGTGTGTTGCTACGAGATACCATTGTAAGCCAGGGGCCCAGTAGTGTCGGCACTTTCAGCAATGATGTAGATTAGGCTTGCAGATTCAATATGTCAGCAACCTAAAGCTGAGTTGATGATAATGATGAAAGTTAGTTTGTGGAGTTAGGAATAAACAAATGCCTACAAAAACAAAAAATCAAAAAGAAAAATCTTAAATTTCAACATTGGGCTAACACCAAAAACATGAAACTTAATAGAGATAAATGCAAAGTTTGCTAACTAGGTTCAGTAATTCTCCTAGGACAAGATTGGAAAGACCTAGCTTGGTTGCCATTGAATCTTCTGCCATTGGTTGCAGAAAATCTGGGGGATTTAGGTGCCCCCAGGCTGACTGAGCCAGTAGTGTGATGTCTTTTGTCAGAGCCAGCACAGACGGAGCTCACCTTGATGATCATAGAATGTCTAGGAAGGGGTGATGCGTCCCCTGTGGTCCGTCCTGGTTAGACCGTATTAGTTATTCAGGAAAAGAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCA	GTGTCTTTTCAGAAACTGATTTTAATGTTCAGCCTCTTCAACATTTATTGATGACTGTGATATAGAAAGTTTGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTCTGCAAAACACAAACCTCTTGATCAGCACTGGTTTTTTTTTTAACCCTTGTTGATTAATAGAGAGTTTTAGGTTAAATGAAAAAAATCACTTATACCAAAAATACACCCATTTTTAAACTCCCAAAATAGGCATCATAACCCTCTTGAAGTGAATCCTCGAAGACTATGAAATTCTTGGTAAGTTTTGCTGGTATCATGGCATCTTTTTCCCATGTTCAGTCAGTCTGTTAGAGCAGAAGTTCACTGAATTAGGATAGCCTGATCCACTTTAAGCACCCAAGAGTTTGCTAGTTCTCAGAAGTGTGTGTTTGTCACCTGAGGATAGTATTTTTGGTATATTTGCCCAGTGACGCAGCATTCCAGGCTGAGATTGCAGAATGGCTCATGGAGCCCTTGTGTAGGGAAGCCTCTGACTGTGTTTCTCCTCTGTTCTCATCACGGCAGTCATCCTCACGGAAGAAGGCTTCTGTGACAAAGGTGTGGGGGGTTTTCCCCATACAGCAAGCAGTGGACACCGACTGGGTGTCCTCTGATTCAGTTCCGATACCATCTACTTGGAGATAGTGCTGGATCCCAAAGGTTGGGGGTTCAGTCCCCCAGACGGACTCCCCCCACAACAGCAGTCGAAAGTATGGGCCTCTAGAACTTATGACCAACTGGCTTCCAGTTGGGATTCCCATAACTTCCTCTTTGGGTTCAATTATTAATAATTTGCTGGAGTGGTTCACAGAACTCAGAAAAACACATTTACCAGTTTATTATAAAGGATGTTGCAAAGGATACAGATGAAGAGACGGGTTGGGTGAGGTATGGGGAAAGGGTCATGGAGTGTCCACACCCTCCCTGGGGACCACCCTCCAGGAGCCTCCACAAGTGTAGCTGTGCAGAAGCTCTCTGAACCCAGTACTCCTGGGTTTTTATGGAGGCTTCATGACATCGCCATTCCTTCCCCCAGGATATACAGTGGGACTGTGTCTGGGGAGGGTCTTAAGACCCACAGTCAGAAAGGTAGACGCTTGTAATCCTAGCACTTTAGGAGGCTGAGGCAGGAGACTTGCTTGAGGCCTGGAGTTCAGTATCAGCATGGGCAACATGGCAAGACCTCATCTCTATAAAAAAAGAAAAGGTTGCAGTGGGCCAGGTGCGGTGGCTCACGCCTCTAATTCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGCTGCGCACCTGTAATCACAGCTATTCGGAAGGCTGAGGTGGGAGAATCTGCAAGGGAAGTCTAAAGGATTTCATTTCCACTGTCACTCAGGCATCTTCTCTTCCTCACCTAAGCCCTGCTGTGTTGGAGGAGTCCCAGAGGCAGGGTTTTAGTGAGACCCTCACGGCCACTCCCCACTCCTGACCCCATAAGCCCTGTGAGCCTACACAGAGACGGTGGCTCCTGAGCCGTAGTGGCAGAGAATAACACCTTGTCGGGTGGCCCATGCAGCAGGTTATAAACAAATGTTCGATGACTGACGTTCTCCTGTTTTGCAGAAAATTATAGTTTTGGTATGACAAGGGGAAATTACATTAAACAAGCAATTTAGTGAACTTTTTTTTTTTTTTTGAGGAATGTTTCACACTTGGAACTGAAGTCATTTTCTTTTATTCTAGTGACTTTTTGAGTATGAAAAAGGAAGGACTCCCAATCCTGACATAGTTTGCAACAAGCACATCAAATTTAGTTGCTTTTTTCATTATGCTGTGGATAATCTTGGTAAGTAATTTGGGTTTAAAACATTTTTTTTTTTAAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGATTGCAGTGGTGCGATCATGACTCACTGCAGCCTCGACCTCCTGGGCTCAAGAGATTCTCCCACCCCAGGCTCCTGAGTAGCTTGGACCACAGGCATGCCACCATGGTGGCTAATTTTTTGTGGAGATGGTGTCACAACTGTATTGTCCAGGCTGGTCTCAGATTTCTGGCCTTAAGCAGTCCTCCTGCCTCGGCCTTCCAAAGTGCTGAGATTACAAGCGTGAGCCCCTGTGCCTAGCCTGTTTCTTCTTGTGGAACCTCCTGATACTGAATTGCTTGCTTAGACCACCTCTTGATGTCTGTGGCTATGCTTTATGAATTTTAGGTTCTTCTTCCTGTCCCCTGCCATTGGGGTCACCATAATGAGTTTCTGAAGTTCTGGCTCAGGCTTCTTGGTTTGCTCTGTCCCACTGCAGCTCACCCTGTTGTGTGTTGCTACGAGATACCATTGTAAGCCAGGGGCCCAGTAGTGTCGGCACTTTCAGCAATGATGTAGATTAGGCTTGCAGATTCAATATGTCAGCAACCTAAAGCTGAGTTGATGATAATGATGAAAGTTAGTTTGTGGAGTTAGGAATAAACAAATGCCTACAAAAACAAAAAATCAAAAAGAAAAATCTTAAATTTCAACATTGGGCTAACACCAAAAACATGAAACTTAATAGAGATAAATGCAAAGTTTGCTAACTAGGTTCAGTAATTCTCCTAGGACAAGATTGGAAAGACCTAGCTTGGTTGCCATTGAATCTTCTGCCATTGGTTGCAGAAAATCTGGGGGATTTAGGTGCCCCCAGGCTGACTGAGCCAGTAGTGTGATGTCTTTTGTCAGAGCCAGCACAGACGGAGCTCACCTTGATGATCATAGAATGTCTAGGAAGGGGTGATGCGTCCCCTGTGGTCCGTCCTGGTTAGACCGTATTAGTTATTCAGGAAAAGAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCANNNN	pathogenic	328,120
Determine if the mutation at chromosome 22, position 46343340 in gene TRMU (tRNA mitochondrial 2-thiouridylase) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	TGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTCTGCAAAACACAAACCTCTTGATCAGCACTGGTTTTTTTTTTAACCCTTGTTGATTAATAGAGAGTTTTAGGTTAAATGAAAAAAATCACTTATACCAAAAATACACCCATTTTTAAACTCCCAAAATAGGCATCATAACCCTCTTGAAGTGAATCCTCGAAGACTATGAAATTCTTGGTAAGTTTTGCTGGTATCATGGCATCTTTTTCCCATGTTCAGTCAGTCTGTTAGAGCAGAAGTTCACTGAATTAGGATAGCCTGATCCACTTTAAGCACCCAAGAGTTTGCTAGTTCTCAGAAGTGTGTGTTTGTCACCTGAGGATAGTATTTTTGGTATATTTGCCCAGTGACGCAGCATTCCAGGCTGAGATTGCAGAATGGCTCATGGAGCCCTTGTGTAGGGAAGCCTCTGACTGTGTTTCTCCTCTGTTCTCATCACGGCAGTCATCCTCACGGAAGAAGGCTTCTGTGACAAAGGTGTGGGGGGTTTTCCCCATACAGCAAGCAGTGGACACCGACTGGGTGTCCTCTGATTCAGTTCCGATACCATCTACTTGGAGATAGTGCTGGATCCCAAAGGTTGGGGGTTCAGTCCCCCAGACGGACTCCCCCCACAACAGCAGTCGAAAGTATGGGCCTCTAGAACTTATGACCAACTGGCTTCCAGTTGGGATTCCCATAACTTCCTCTTTGGGTTCAATTATTAATAATTTGCTGGAGTGGTTCACAGAACTCAGAAAAACACATTTACCAGTTTATTATAAAGGATGTTGCAAAGGATACAGATGAAGAGACGGGTTGGGTGAGGTATGGGGAAAGGGTCATGGAGTGTCCACACCCTCCCTGGGGACCACCCTCCAGGAGCCTCCACAAGTGTAGCTGTGCAGAAGCTCTCTGAACCCAGTACTCCTGGGTTTTTATGGAGGCTTCATGACATCGCCATTCCTTCCCCCAGGATATACAGTGGGACTGTGTCTGGGGAGGGTCTTAAGACCCACAGTCAGAAAGGTAGACGCTTGTAATCCTAGCACTTTAGGAGGCTGAGGCAGGAGACTTGCTTGAGGCCTGGAGTTCAGTATCAGCATGGGCAACATGGCAAGACCTCATCTCTATAAAAAAAGAAAAGGTTGCAGTGGGCCAGGTGCGGTGGCTCACGCCTCTAATTCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGCTGCGCACCTGTAATCACAGCTATTCGGAAGGCTGAGGTGGGAGAATCTGCAAGGGAAGTCTAAAGGATTTCATTTCCACTGTCACTCAGGCATCTTCTCTTCCTCACCTAAGCCCTGCTGTGTTGGAGGAGTCCCAGAGGCAGGGTTTTAGTGAGACCCTCACGGCCACTCCCCACTCCTGACCCCATAAGCCCTGTGAGCCTACACAGAGACGGTGGCTCCTGAGCCGTAGTGGCAGAGAATAACACCTTGTCGGGTGGCCCATGCAGCAGGTTATAAACAAATGTTCGATGACTGACGTTCTCCTGTTTTGCAGAAAATTATAGTTTTGGTATGACAAGGGGAAATTACATTAAACAAGCAATTTAGTGAACTTTTTTTTTTTTTTTGAGGAATGTTTCACACTTGGAACTGAAGTCATTTTCTTTTATTCTAGTGACTTTTTGAATGAGTATGAAAAAGGAAGGACTCCCAATCCTGACATAGTTTGCAACAAGCACATCAAATTTAGTTGCTTTTTTCATTATGCTGTGGATAATCTTGGTAAGTAATTTGGGTTTAAAACATTTTTTTTTTTAAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGATTGCAGTGGTGCGATCATGACTCACTGCAGCCTCGACCTCCTGGGCTCAAGAGATTCTCCCACCCCAGGCTCCTGAGTAGCTTGGACCACAGGCATGCCACCATGGTGGCTAATTTTTTGTGGAGATGGTGTCACAACTGTATTGTCCAGGCTGGTCTCAGATTTCTGGCCTTAAGCAGTCCTCCTGCCTCGGCCTTCCAAAGTGCTGAGATTACAAGCGTGAGCCCCTGTGCCTAGCCTGTTTCTTCTTGTGGAACCTCCTGATACTGAATTGCTTGCTTAGACCACCTCTTGATGTCTGTGGCTATGCTTTATGAATTTTAGGTTCTTCTTCCTGTCCCCTGCCATTGGGGTCACCATAATGAGTTTCTGAAGTTCTGGCTCAGGCTTCTTGGTTTGCTCTGTCCCACTGCAGCTCACCCTGTTGTGTGTTGCTACGAGATACCATTGTAAGCCAGGGGCCCAGTAGTGTCGGCACTTTCAGCAATGATGTAGATTAGGCTTGCAGATTCAATATGTCAGCAACCTAAAGCTGAGTTGATGATAATGATGAAAGTTAGTTTGTGGAGTTAGGAATAAACAAATGCCTACAAAAACAAAAAATCAAAAAGAAAAATCTTAAATTTCAACATTGGGCTAACACCAAAAACATGAAACTTAATAGAGATAAATGCAAAGTTTGCTAACTAGGTTCAGTAATTCTCCTAGGACAAGATTGGAAAGACCTAGCTTGGTTGCCATTGAATCTTCTGCCATTGGTTGCAGAAAATCTGGGGGATTTAGGTGCCCCCAGGCTGACTGAGCCAGTAGTGTGATGTCTTTTGTCAGAGCCAGCACAGACGGAGCTCACCTTGATGATCATAGAATGTCTAGGAAGGGGTGATGCGTCCCCTGTGGTCCGTCCTGGTTAGACCGTATTAGTTATTCAGGAAAAGAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAAT	TGTTGGGTCTAGGACACAGACACAGATTGCACCTTAAGTAGTTTATAGTTTAATGAGCTTCCTGGTAACTTTCTAATAATTAAAGCAAAATGGAAAGAGTGTAATAATATCAAGTGTTGTTGCAAATGTGGAAAAACATGAGTTTTTATGAACTTCTAGGGGGACTGAGAAGTAGGAAAACAGTTTGGTGCCTGCTAAAGTGGAAGATATCCAAGGAACCTCTGACCCTGTGCAGATCTGTGATATGTCTGCAAAACACAAACCTCTTGATCAGCACTGGTTTTTTTTTTAACCCTTGTTGATTAATAGAGAGTTTTAGGTTAAATGAAAAAAATCACTTATACCAAAAATACACCCATTTTTAAACTCCCAAAATAGGCATCATAACCCTCTTGAAGTGAATCCTCGAAGACTATGAAATTCTTGGTAAGTTTTGCTGGTATCATGGCATCTTTTTCCCATGTTCAGTCAGTCTGTTAGAGCAGAAGTTCACTGAATTAGGATAGCCTGATCCACTTTAAGCACCCAAGAGTTTGCTAGTTCTCAGAAGTGTGTGTTTGTCACCTGAGGATAGTATTTTTGGTATATTTGCCCAGTGACGCAGCATTCCAGGCTGAGATTGCAGAATGGCTCATGGAGCCCTTGTGTAGGGAAGCCTCTGACTGTGTTTCTCCTCTGTTCTCATCACGGCAGTCATCCTCACGGAAGAAGGCTTCTGTGACAAAGGTGTGGGGGGTTTTCCCCATACAGCAAGCAGTGGACACCGACTGGGTGTCCTCTGATTCAGTTCCGATACCATCTACTTGGAGATAGTGCTGGATCCCAAAGGTTGGGGGTTCAGTCCCCCAGACGGACTCCCCCCACAACAGCAGTCGAAAGTATGGGCCTCTAGAACTTATGACCAACTGGCTTCCAGTTGGGATTCCCATAACTTCCTCTTTGGGTTCAATTATTAATAATTTGCTGGAGTGGTTCACAGAACTCAGAAAAACACATTTACCAGTTTATTATAAAGGATGTTGCAAAGGATACAGATGAAGAGACGGGTTGGGTGAGGTATGGGGAAAGGGTCATGGAGTGTCCACACCCTCCCTGGGGACCACCCTCCAGGAGCCTCCACAAGTGTAGCTGTGCAGAAGCTCTCTGAACCCAGTACTCCTGGGTTTTTATGGAGGCTTCATGACATCGCCATTCCTTCCCCCAGGATATACAGTGGGACTGTGTCTGGGGAGGGTCTTAAGACCCACAGTCAGAAAGGTAGACGCTTGTAATCCTAGCACTTTAGGAGGCTGAGGCAGGAGACTTGCTTGAGGCCTGGAGTTCAGTATCAGCATGGGCAACATGGCAAGACCTCATCTCTATAAAAAAAGAAAAGGTTGCAGTGGGCCAGGTGCGGTGGCTCACGCCTCTAATTCCAGCATTTTGGGAGGCTGAGGCGGGCAGATCACTTGAGGCCAGGAGTTGGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTATCTGGGCATGGTGCTGCGCACCTGTAATCACAGCTATTCGGAAGGCTGAGGTGGGAGAATCTGCAAGGGAAGTCTAAAGGATTTCATTTCCACTGTCACTCAGGCATCTTCTCTTCCTCACCTAAGCCCTGCTGTGTTGGAGGAGTCCCAGAGGCAGGGTTTTAGTGAGACCCTCACGGCCACTCCCCACTCCTGACCCCATAAGCCCTGTGAGCCTACACAGAGACGGTGGCTCCTGAGCCGTAGTGGCAGAGAATAACACCTTGTCGGGTGGCCCATGCAGCAGGTTATAAACAAATGTTCGATGACTGACGTTCTCCTGTTTTGCAGAAAATTATAGTTTTGGTATGACAAGGGGAAATTACATTAAACAAGCAATTTAGTGAACTTTTTTTTTTTTTTTGAGGAATGTTTCACACTTGGAACTGAAGTCATTTTCTTTTATTCTAGTGACTTTTTGAATGAGTATGAAAAAGGAAGGACTCCCAATCCTGACATAGTTTGCAACAAGCACATCAAATTTAGTTGCTTTTTTTCATTATGCTGTGGATAATCTTGGTAAGTAATTTGGGTTTAAAACATTTTTTTTTTTAAAGACAGGGTCTCGCTCTGTCACCCAGGCTGGATTGCAGTGGTGCGATCATGACTCACTGCAGCCTCGACCTCCTGGGCTCAAGAGATTCTCCCACCCCAGGCTCCTGAGTAGCTTGGACCACAGGCATGCCACCATGGTGGCTAATTTTTTGTGGAGATGGTGTCACAACTGTATTGTCCAGGCTGGTCTCAGATTTCTGGCCTTAAGCAGTCCTCCTGCCTCGGCCTTCCAAAGTGCTGAGATTACAAGCGTGAGCCCCTGTGCCTAGCCTGTTTCTTCTTGTGGAACCTCCTGATACTGAATTGCTTGCTTAGACCACCTCTTGATGTCTGTGGCTATGCTTTATGAATTTTAGGTTCTTCTTCCTGTCCCCTGCCATTGGGGTCACCATAATGAGTTTCTGAAGTTCTGGCTCAGGCTTCTTGGTTTGCTCTGTCCCACTGCAGCTCACCCTGTTGTGTGTTGCTACGAGATACCATTGTAAGCCAGGGGCCCAGTAGTGTCGGCACTTTCAGCAATGATGTAGATTAGGCTTGCAGATTCAATATGTCAGCAACCTAAAGCTGAGTTGATGATAATGATGAAAGTTAGTTTGTGGAGTTAGGAATAAACAAATGCCTACAAAAACAAAAAATCAAAAAGAAAAATCTTAAATTTCAACATTGGGCTAACACCAAAAACATGAAACTTAATAGAGATAAATGCAAAGTTTGCTAACTAGGTTCAGTAATTCTCCTAGGACAAGATTGGAAAGACCTAGCTTGGTTGCCATTGAATCTTCTGCCATTGGTTGCAGAAAATCTGGGGGATTTAGGTGCCCCCAGGCTGACTGAGCCAGTAGTGTGATGTCTTTTGTCAGAGCCAGCACAGACGGAGCTCACCTTGATGATCATAGAATGTCTAGGAAGGGGTGATGCGTCCCCTGTGGTCCGTCCTGGTTAGACCGTATTAGTTATTCAGGAAAAGAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAA	pathogenic	328,123
Benign or pathogenic: chromosome 22, position 46346419, gene TRMU (tRNA mitochondrial 2-thiouridylase) variant? Disease(s) if pathogenic?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	GAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGA	GAGTGATAGACTGATAGAATGTGAATTGATTTTTATTTTCAGGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGANN	pathogenic	328,128
Does the chromosome 22 mutation at position 46346460 within gene TRMU (tRNA mitochondrial 2-thiouridylase) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Aminoglycoside-induced_deafness']	GGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGT	GGGTATCTGGAAATATGTCCTCCCTGAACTGTTGAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTN	pathogenic	328,130
Assess the variant on chromosome 22, position 46346493, impacting TRMU (tRNA mitochondrial 2-thiouridylase): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Aminoglycoside-induced_deafness']	GAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCC	GAAATTACTTTGGGTCGTAGTGGCAGTGGTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTC	pathogenic	328,131
Mutation at chromosome 22, position 46346521, within TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Aminoglycoside-induced_deafness']	GTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACA	GTCAAGCGTGTGAGTTAGGATGACATTCTTTGTGTGACACCAGCAGACAGTTAGGACTGGCAGGAGAAAGAGTTCCCTGAGGTGGAGGCGCAGGCAGCTGTTCAGGAAGGGAAGGCTTGCCTTTGGAGAGCATTAAGCTGTCACGAAAGCTTTTTAGGGAGCCCCTAGGTGGCTGGCTGTCAGGCACGCTGTGGAAGGAACTTCTGCAGTGAATGTTTCCACACCTGGAAGAAAGGCATGAACCGTGCAGCACAGGATGAGAGGACATGACGCCCAGACTTCTGAACTCACCGCGCTTCTCAGAGGCATCCTGCGCTTTTTCTAGTATAAGTGCTGTTCTTTGAGGACACAGATGTAAAGTGGATTGTTTTCTCTAGGAGAACCTCAGTCAAGATGAGATTATGTGTCTCTAAAGTGCCTTTTTCAGGTCGTTAATATGCAGCAGCTAATTCTTGCTGTGTCTTCTGTTTACATGGAGCTAGTGTGGCTGGTCCAGGATGGCTGTGTCTTCTGTTTACACTGAGCTAGTGTGGTTGGTCCAGGATGGAATCCATTTTGCTGCACCTTTCATAAAAGTCTCTTGCAATACTAAATATCTGTAATTTTTTCTTTTTTTGAGATGGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCCACCTCCTGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCAACATGTCTAGCTAATTTTTGTACTTTTTTTGTAGAGACGGGGTTTCATCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCACATCGGCCTCCTAAAAGTGCTGGGATGACAGGCGTGAGCCGCTGCGCCTGGCCCAAATATCTGGAATTTTTACACAATGAAAAGGTTCTGGATTCATATGCACCTTGTTAGGCTCTTTGGCTTTGTGTAATATGAAAAGAAGAAACAGTGTGCTGGATGATTCTTCACTCTGATGAAAATAATACATATTTATTACAGAAAATTTAAAAGAGGAGAAACGACACCTATAATTTCACTCTCAGAATCAAAGGAATAGACCTGAGATTTTTCTTCAACTGTTTCTGTACAGTAAAAACCGTGGAATCATGGTGTTACATCCTCGCCCTGCTGAACAGTGCCGGGCATTTTCCCGTGTTAGTAAACATTCTCTGTAAGGACCCCCATTGTTACGGCAGTGCATTGTCATTCACTTCACATTCTCCCAGTGTTGAACATTTTGGTTCTTTTTTTTTTTTTTTTCCTCCTGAGACAGCATCTTGCTCTGTTGCCCAGACTAGAGTGCTGTGGTGCAGTCTTGGCTTCCTGCAGCCTCAACCTCCCAGGTTGAAGCAATCCTCCCACCTCAGCCTCCCAAGTGGCTGGGACTACAGGTGTGCCCCACCACGCCTGGCTAATTTTTGTATTTTTTGTAAAGGTGGGATTTCACCATGTTGCCCAGGCTGGTCTTGAACTCCTGAGCACAAGCAATCATCTGCCCGCCTCGGCCTCCCAGAGTGCTAGGATTACAGGCATGAGCCACCGCGCCTGGCCTCCCTTCGTATTATCACAAACCCTGAAAGGAATATTTTGTGTTTAAATCTTTCTGTGCCTTTCAGACTGTTTCCTTAAGCCAGAAATTAACTTTGGAAAGGCTCTTAAAGGTGCAATAACACTTTAAGTAGCAAGGTTGTATCAGCTTAAGAGTTCAAGGCTGCTTGTTTGATGAAATTGGATGTGTGCGTCTGTTCCCTGGGATCTCTATGTTTGGGTGCAGGGTGGATTGTGCAGCCCCTCAGCCTAAGACTTGGGGTCTATACTCTTCTTTTGTGCCTTGGTTTATGCTGATCAAGGCCTGCAAGTATGAGTCTAAAACCTGATCCTTGTGTTCTAAAAACCTCACAGGGGCAGATGCCATTGCCACAGGTCACTATGCAAGAACTTCCCTGGAAGATGAAGAAGTCTTTGAGCAGAAGCACGTTAAGAAGCCCGAAGGGCTTTTCAGAATCGGTTTGAAGTTAGAAATGGTAAGTTCATGTGCCCAGGTCAGAGCCAAATTCTTGTGAACAGATTGAAATCTTTGGAGGAATGACAGTGGGTTGTGCCTGAGGATCACTGCCACCCCTCCCTCTGTGCTCCAGAGTAGCTTGTATGGGATTCACATTTGAAAAGGTGCAGTTACCAAGAGGACATTTTCCCGGAGGGCCTGTGATTGGGTAGTAAACAGTGTCCCTGCCGGCCATGGTGAGGGCTGGTGGAAAGTGACATCAGATACTGATAATCCAGCTCTCGACACTGTGTGGTGATTTGAATGTTCCAAAAATATCTGGGTAAATATTTGACAGTGATAATTGGGGTGCTGTCAGTCTAGCCAAGGACCTGTACTTAGCAACAAGTTCTCAAGGGCGTGCGGTTCAGGCAGACTTTCAACGTGCTGTGAGCACAGGACCTGCTGTGGATCGCATGGGCTCAGCAGTCAGGCTTTGTAGCCGTATTTACACGTTAGTTTATGCGTGTTAGGGAGCCAAGTTTCACCTTTCTAGAAAAAAGTCAATGGCAGACAGTGAGCTGGGAAGCTGCTGGCCTGTCCTGGTGTACATTCGTGTGTAGAAAAGAGGAATTCCCTGTATTGTTGAGTGAAAAACCAAGTGGGGCTCAGAGCCGTGTTTCCGCACGGAGCGTCCGTCCATCAGTGGGGACCCCTGAAGGGCAGCCTTGCTCTTTTGTCCGGAAGTTCAGATGTTGGAGGGAGCCTTGTCCCGCCATCTGGGGAATAGGGGTCTCTGGGGCTGGGGCAGGGCTTTACATACACACATTTCTTTTTTAATTATTATTATTAATTTTATTTTTTTGAGAGAGGATCTCACTCTGTCAACCGGGCTGGAGTACAGTGGCCCGATCTTGGCTCGCTGCAGCCTCCACCTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCCCACCAAGTAGCTGGGACCACAGGTGTGCGCCACTATGCTCGGCTTTTTCATTTTTTGTAGAGATGAGGTCTCGTTAATGTTGTCCGTGCTGGTCTTGAATTCCTGGGCTCAAGCGATCCTCCCACCTCGGCCTCTCAAAGTGTTGGGATTACAGGTGTGAGCCACCAAGCCCGGCCTCACACGTTTCACATCACTCCTCTTAGCAGTCCATGAGGTGTATGCTCTCATCCCGTTTCACAGATGAGGAAACCGAGGCCCGGATGAAGCCATCTGACCTGGGTCCCTCGGGTGGCAGAGCTGGATTTCAGTGCACTTCCGCTCACTCCCCAGCCCCTGCTGCTTCTGCTGGGTCAGGCCCCAGCTGAGTTCTTTCCTCAGCGTTGCTGAGCCCATCCTGAAGGCTGCAGTGATGGGGCAGGGCCGTGCTTGGTCAAGGGAGCCCTGAGTGTGCCAACAGTCGTCTGCCGCCCTCTGTTCCCTCCTCGCCTTCCTTCCTTATGCCACAGGGTGATCAGGTAACTGTACTGACTTGAGCCCAGAGAAGAGCAGCCCACTCCCGTAAGACAGCCCCCCATTTCAGGAAGACATGGGTTTGAATGCAGATAAGACAGCCCCCCATTTCAGGAAGACATGGGTTGGAATGCAGAGTCCTGCCACTTGGGAACTCCAGGGTGGAATTCACCAAGTAATTGTGCATTTACGGGGCCTGAGGAGATGGAGGGTTAATTTCCATGTTGAATAGATGCGCCTGCTTACCTCCTAGAACATTACCTCCTAGAACACTGTGTGCCCTGCAGAGCCATCGACCTTTATTATAGGCCACGTGCCCTCGGAAACTTGGGACAGTACTGATGCGTTCTGTTGAGTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAN	pathogenic	328,133
Evaluate this variant at chromosome 22, position 46350387, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCATTCCTTTCTGTGCTTTTTCCTCTATAGCAGTTCAGTTAGGGTCGCCAGCTTGCTTTTTTGAAAATCATAGATTTTTAGTTTGTTTTAAAATGACGCAGAACTAGGAGAAAATGCAAATGGCTCCTAGTTTTCTGAGGCTTTTACACACATGCAGTGTTTGACTGCAGTTAGTTTGGGATTGAAAGTGGACTCTGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAAAAAAGTTAGCCGAGTATGGTGGCACATGCCTGTAGTCCCAGGTACTCTGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCGGAGATTGCCGTGAGCCGAGATGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTGGACTCTGGAAAGTGCTCTGCTTCCGTGGCGACTGGTCGGCTGAACTTGGTCTCACTTGTCACTCAGTTCTGCTGTTTGTACCTGCCAAGTAAGGGAGGGGGACTCGGGAGGCTGGGCAGCCTCCAGCCCCACCGCCTCCACCTGCATCACTTTGGGCGAGTCATATGTGATGAACTGGGCCGGCTCCAGTCTCCCCTCTGTAACGTGGGGAGAATTCTCCCTCTCACGGCTAACGTGGGAATCGGCAGATGGAAAACACTAGCTACGCAGAGTGTGTACTGTACACGTGGCTCTGCCAAGCCAGGAAGGGTAGGTGTGCTGTCTGACCGTCACGGCATGTGGCGTGCTCTGAGTGTAACTCGAAAGGAGAAGTTTATGAGAAAGATTGAAAGAAGCCAGAAAACTGACGTTCGTCTTAGTTTTTTGCCATTGATCATTGAACTCGAGAGTGGAGAACTGGACGGTTCTAAGCCAGGTTTACTCACACCTCTGCTCCGTTGCCTTAAAGCCAGAAATGGTTCTTTACAATCACATAGGGAATGTCGGAGGAACTGCAGGGTCACCTAACAGATGTCAGCTGAGACTCTCAACAAAAAAACGTTTTTACCAAGAAAGCTAATGCCTTCACAGGTAGGGCGCTGCTGGAGGCATGTGCTGGCCGCCGGGCAGTGAACCTGGAAAGTGTAGAGTCCTTGAAACCACTGTGGCACGAACACATCCTGTGGTTGTTGGAAGAAGGCACAGCTGACACTATATCAGTGGAATTTTCTGCCAGCAACTAGCTTACTCCATTTTCCAAGATTTGGCTGAATTTATTTTAGGTGTTTTTTTTTTTTTTTCTTATCACTTGAGAACATTTTTTCATGTGATGTTTCATCTTTGAAAATATTATAATCTGAAGTATGAGCTGGAATAATTTCTTTGTCATGTAAAATCCTTGTTTTTTTTTTTGGAGGTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTG	GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCATTCCTTTCTGTGCTTTTTCCTCTATAGCAGTTCAGTTAGGGTCGCCAGCTTGCTTTTTTGAAAATCATAGATTTTTAGTTTGTTTTAAAATGACGCAGAACTAGGAGAAAATGCAAATGGCTCCTAGTTTTCTGAGGCTTTTACACACATGCAGTGTTTGACTGCAGTTAGTTTGGGATTGAAAGTGGACTCTGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAAAAAAGTTAGCCGAGTATGGTGGCACATGCCTGTAGTCCCAGGTACTCTGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCGGAGATTGCCGTGAGCCGAGATGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTGGACTCTGGAAAGTGCTCTGCTTCCGTGGCGACTGGTCGGCTGAACTTGGTCTCACTTGTCACTCAGTTCTGCTGTTTGTACCTGCCAAGTAAGGGAGGGGGACTCGGGAGGCTGGGCAGCCTCCAGCCCCACCGCCTCCACCTGCATCACTTTGGGCGAGTCATATGTGATGAACTGGGCCGGCTCCAGTCTCCCCTCTGTAACGTGGGGAGAATTCTCCCTCTCACGGCTAACGTGGGAATCGGCAGATGGAAAACACTAGCTACGCAGAGTGTGTACTGTACACGTGGCTCTGCCAAGCCAGGAAGGGTAGGTGTGCTGTCTGACCGTCACGGCATGTGGCGTGCTCTGAGTGTAACTCGAAAGGAGAAGTTTATGAGAAAGATTGAAAGAAGCCAGAAAACTGACGTTCGTCTTAGTTTTTTGCCATTGATCATTGAACTCGAGAGTGGAGAACTGGACGGTTCTAAGCCAGGTTTACTCACACCTCTGCTCCGTTGCCTTAAAGCCAGAAATGGTTCTTTACAATCACATAGGGAATGTCGGAGGAACTGCAGGGTCACCTAACAGATGTCAGCTGAGACTCTCAACAAAAAAACGTTTTTACCAAGAAAGCTAATGCCTTCACAGGTAGGGCGCTGCTGGAGGCATGTGCTGGCCGCCGGGCAGTGAACCTGGAAAGTGTAGAGTCCTTGAAACCACTGTGGCACGAACACATCCTGTGGTTGTTGGAAGAAGGCACAGCTGACACTATATCAGTGGAATTTTCTGCCAGCAACTAGCTTACTCCATTTTCCAAGATTTGGCTGAATTTATTTTAGGTGTTTTTTTTTTTTTTTCTTATCACTTGAGAACATTTTTTCATGTGATGTTTCATCTTTGAAAATATTATAATCTGAAGTATGAGCTGGAATAATTTCTTTGTCATGTAAAATCCTTGTTTTTTTTTTTGGAGGTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCT	pathogenic	328,141
Is the genetic variant on chromosome 22, position 46350387, gene TRMU (tRNA mitochondrial 2-thiouridylase), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['Aminoglycoside-induced_deafness']	GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCATTCCTTTCTGTGCTTTTTCCTCTATAGCAGTTCAGTTAGGGTCGCCAGCTTGCTTTTTTGAAAATCATAGATTTTTAGTTTGTTTTAAAATGACGCAGAACTAGGAGAAAATGCAAATGGCTCCTAGTTTTCTGAGGCTTTTACACACATGCAGTGTTTGACTGCAGTTAGTTTGGGATTGAAAGTGGACTCTGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAAAAAAGTTAGCCGAGTATGGTGGCACATGCCTGTAGTCCCAGGTACTCTGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCGGAGATTGCCGTGAGCCGAGATGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTGGACTCTGGAAAGTGCTCTGCTTCCGTGGCGACTGGTCGGCTGAACTTGGTCTCACTTGTCACTCAGTTCTGCTGTTTGTACCTGCCAAGTAAGGGAGGGGGACTCGGGAGGCTGGGCAGCCTCCAGCCCCACCGCCTCCACCTGCATCACTTTGGGCGAGTCATATGTGATGAACTGGGCCGGCTCCAGTCTCCCCTCTGTAACGTGGGGAGAATTCTCCCTCTCACGGCTAACGTGGGAATCGGCAGATGGAAAACACTAGCTACGCAGAGTGTGTACTGTACACGTGGCTCTGCCAAGCCAGGAAGGGTAGGTGTGCTGTCTGACCGTCACGGCATGTGGCGTGCTCTGAGTGTAACTCGAAAGGAGAAGTTTATGAGAAAGATTGAAAGAAGCCAGAAAACTGACGTTCGTCTTAGTTTTTTGCCATTGATCATTGAACTCGAGAGTGGAGAACTGGACGGTTCTAAGCCAGGTTTACTCACACCTCTGCTCCGTTGCCTTAAAGCCAGAAATGGTTCTTTACAATCACATAGGGAATGTCGGAGGAACTGCAGGGTCACCTAACAGATGTCAGCTGAGACTCTCAACAAAAAAACGTTTTTACCAAGAAAGCTAATGCCTTCACAGGTAGGGCGCTGCTGGAGGCATGTGCTGGCCGCCGGGCAGTGAACCTGGAAAGTGTAGAGTCCTTGAAACCACTGTGGCACGAACACATCCTGTGGTTGTTGGAAGAAGGCACAGCTGACACTATATCAGTGGAATTTTCTGCCAGCAACTAGCTTACTCCATTTTCCAAGATTTGGCTGAATTTATTTTAGGTGTTTTTTTTTTTTTTTCTTATCACTTGAGAACATTTTTTCATGTGATGTTTCATCTTTGAAAATATTATAATCTGAAGTATGAGCTGGAATAATTTCTTTGTCATGTAAAATCCTTGTTTTTTTTTTTGGAGGTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTG	GTGCGTTTGGCATGTGGGAATTGTGATGGTGCACAGTGTCTTGGCCTTCACTGGGTTTTGTAGGCACACTAAGGTTTCCATTTCATTCTTCTTCAGTTGCCCTGGCCCAGCCTGGGTCTCTGGGTAGAGCACCTGCAGGGGCAGTGGACGGCCTGGGCTCAGGGTCGGTCAGCACCTGAGACCAGCGCTCCTAGGCCTGGCCTGTGACTGGGCTGATTTTCCCCCACACAGCGTGCTACCACCGGCCTGGCAGAGCCAGCACGGCAGCCGGCGTGTCAGTGAGGCTCCAGCACAGGCAGCCTCCTCCAAATGTTGTTCATTCCTTTCTGTGCTTTTTCCTCTATAGCAGTTCAGTTAGGGTCGCCAGCTTGCTTTTTTGAAAATCATAGATTTTTAGTTTGTTTTAAAATGACGCAGAACTAGGAGAAAATGCAAATGGCTCCTAGTTTTCTGAGGCTTTTACACACATGCAGTGTTTGACTGCAGTTAGTTTGGGATTGAAAGTGGACTCTGAGGCCAGGTGCGGTGGCTCATGCCTGTAATCACAGCACTTTGGGAAGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCCAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTACAAATACAAAAAAAAAAGTTAGCCGAGTATGGTGGCACATGCCTGTAGTCCCAGGTACTCTGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAGGCGGAGATTGCCGTGAGCCGAGATGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAGTGGACTCTGGAAAGTGCTCTGCTTCCGTGGCGACTGGTCGGCTGAACTTGGTCTCACTTGTCACTCAGTTCTGCTGTTTGTACCTGCCAAGTAAGGGAGGGGGACTCGGGAGGCTGGGCAGCCTCCAGCCCCACCGCCTCCACCTGCATCACTTTGGGCGAGTCATATGTGATGAACTGGGCCGGCTCCAGTCTCCCCTCTGTAACGTGGGGAGAATTCTCCCTCTCACGGCTAACGTGGGAATCGGCAGATGGAAAACACTAGCTACGCAGAGTGTGTACTGTACACGTGGCTCTGCCAAGCCAGGAAGGGTAGGTGTGCTGTCTGACCGTCACGGCATGTGGCGTGCTCTGAGTGTAACTCGAAAGGAGAAGTTTATGAGAAAGATTGAAAGAAGCCAGAAAACTGACGTTCGTCTTAGTTTTTTGCCATTGATCATTGAACTCGAGAGTGGAGAACTGGACGGTTCTAAGCCAGGTTTACTCACACCTCTGCTCCGTTGCCTTAAAGCCAGAAATGGTTCTTTACAATCACATAGGGAATGTCGGAGGAACTGCAGGGTCACCTAACAGATGTCAGCTGAGACTCTCAACAAAAAAACGTTTTTACCAAGAAAGCTAATGCCTTCACAGGTAGGGCGCTGCTGGAGGCATGTGCTGGCCGCCGGGCAGTGAACCTGGAAAGTGTAGAGTCCTTGAAACCACTGTGGCACGAACACATCCTGTGGTTGTTGGAAGAAGGCACAGCTGACACTATATCAGTGGAATTTTCTGCCAGCAACTAGCTTACTCCATTTTCCAAGATTTGGCTGAATTTATTTTAGGTGTTTTTTTTTTTTTTTCTTATCACTTGAGAACATTTTTTCATGTGATGTTTCATCTTTGAAAATATTATAATCTGAAGTATGAGCTGGAATAATTTCTTTGTCATGTAAAATCCTTGTTTTTTTTTTTGGAGGTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGN	pathogenic	328,142
Evaluate if the mutation on chromosome 22 at position 46352160 in TRMU (tRNA mitochondrial 2-thiouridylase) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Aminoglycoside-induced_deafness']	GTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTG	GTGCGAATTTTTCTTACATTAACCCGTGGTGGTCTTTTCCCTAGTAGTTGCTATTGAGTGTTGATGTCTGCCTCTGACAGGCTAGGGGTAGTCTGTCTAAGTGAACAGAAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAG	pathogenic	328,150
For chromosome 22, position 46352268, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins']	AAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGG	AAGGACATTGTTGAAAGTGAAGTATCATTATTTTTATTCCTGCATCGTCTTTTGTTCTTTATTCTTGGCAGCGGTAAAACTCCTCCAGGCAGCTGACAGCTTTAAAGACCAGACCTTCTTTCTCAGCCAGGTTTCCCAGGATGCCCTGAGGAGAACCATCTTCCCTCTGGGGGGATTAACGAAAGAGTTTGTAAAGAAAATCGCTGCTGAGAATAGACTTCATCATGTGCTTCAGAAGAAAGAGGTACGAGTGAGCAGTTGCCTTTGATTAGTGCCTGTTTCCCTTTCCCGACTGCATGGCACGGAGCAGCTGGACCTGTGGGTCCCGCACCACTTCCCCTTCTCCAGGACCTAACATCAAAGGCGGGCCTTGGAGCAATAGATGGAGGAGTTTGCTGAGGCGCACGGTACAGGGCTCTGCTGACATCGGGAGCAGCCTATACGAGACTCCTTGCTTTTTTCCTCTCCTCTGCCCCTATGTGGTAGGCAGCTTTCCCCACAGCCTTAGCAGCTGGTGGGGTGCTCTTGGGATGGCCTGCCTGCCAGGTGAGTGCCAGGCAGTGTGATGCAGCCCCGAGACCCCTGGAGGGGCAGGTGCTGTGCCGCCGTCTGCACACTCATGTGCCCTGTCACCCGCTTGCCCGGCACAGACTCGTTCGGTGCCATCTGTTCGGGCGCTGTGCTGCTGGGCCGCGAGGAATTGGTGACGCGCACACAGTTCCATCTTCGCCTCCATGGAGCCCGCCCGCGAGTGGGGGACACAGGCAGGAGGCCAATCAGTGTAAACCTAGAAAATGTCTACGGAGGGAGGTGTAGGACCCTGGGTGGGAAGCACCAGTGGGGTCTGAGAGTAGGGAATGGAGATGCCAAAAACGGCCTCAAAAGAAGTCACATGGAACCTGAGACCTGAAGGAGGAGAGGATCCGGTGTCCCAGAGAGGGCTGGGAAAGTCCAGATGAGGGAACGGCAGTGCAAAGGCCTTGAGGCGAGGAGAAGCCAGGGAGCCGCTGTGGGGGTGCCTGCCTGTGGCCCCAGCTCCTCAGGAGGATCGAGCGCACCCAGGAGTTTGAGGACAGCCTGGGCAACACAGCGAAACTCGTCTCAAAAAGAGAGAACCCGGAGTGTTGGCGGAACTAGGATGAAGCCCGTGGGAGGGCCTTGGGGATGGAGGGCGAGGGCGCTGTGGGATGAGCCTCACCTCTTCAGGGGCCAGTGCGGTGGGAGCTGTTGCTCCTTCGTGTCTCTTCCTGGTAATGGAAACGGCCATACCTTTCATCAGAGCCATCTTCCCTGAAGAGCACGCCCACCGCCCGTCCTCCTCTCCTCTTGTTTTCCGTTTCCGGTGTCGCTCTGTGGTGGGAGCCGCAGGGATGGAAGGGCAGTCTTGAGAGACACAAACCAGAGTAAACGATGCAGCCCCTGATGGGGCCACGGTGGAGAGCGCACGCCACCCAGGCTCCCCAGCTAGGGCAGATGTGCTTGAGGAAGGCGCCTCTCTCCTCTGACTCCCCTGGAGCCCTCCCCTAAGGCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTG	pathogenic	328,155
Gene TRMU (tRNA mitochondrial 2-thiouridylase) variant at chromosome 22, position 46353796—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	GCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCT	GCCTTAGCTTCAGGCCTGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTN	pathogenic	328,166
Is the genetic mutation found on chromosome 22 at position 46353812, within the gene TRMU (tRNA mitochondrial 2-thiouridylase), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Aminoglycoside-induced_deafness']	TGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGG	TGGCTTTCCTGCTACCTGCCCCTTCTCTGGTCCCTGTCTCTCCCCCACTCCTCGCAGGACAGTGGCCTGAAGGACCTGACCGGGTTCTGCTTTCTTCCCCGGGGCAGCTGGTGTGAGGGTCTCCCGCGCAGGGTCAGACCCCGCGGGCCGAGACAATGAGGCGTTCTCTAAGGCTCTGGCATCGTGTGCGCCGGCTGTGACTGGCGGCCGAGGGTGCCGGTGGGCAGCCGGGCCCCTACCCTGGAAGCAAAGTGTGGGGTGAGGCCGGGAGGCCCCAGGGCCCGCTCAGGACGTCTGGGTACAGCTTGGGCCACCGCCACTTCTGCTCCTCTCACGGCTGCCGTCTTCTCATTTCAGAGCATGGGCATGTGTTTCATCGGGAAGAGGAATTTTGAACATTTCCTTCTTCAGGTGCGTGCTGCTCTTTGACACAAAGAGATGGGGCTGCGTGTCTGCCCTGGGCCTAGATCTCCGTCGGTAATGACATGTTTGTTTTCCAGTATCTGCAGCCTCGACCTGGTCACTTTATTTCCATAGAAGACAATAAGGTTCTGGGAACACATAAAGGTGAGGTGCAGACTCTGCCACTTGTCATCTGAAATGCCTAGAGCTGTGGCGTTTCAGCTCTGGGAGACTAGACCAGAGTTCCTGTCGTCCCTTCCACTTGGCTGGAGAATTGTAGAAGGCTCTGTGGGGCGGCCGGGGGCGGGCACGGCCTAGGGTGGAACAGTTGCCTTGATGGTGGCTGGGTGCACTTCCAGATGTGGCCTCAGCTGAGATGCTGGAGTTCATGAAAAGCGCGCCTCTGACTTGGAAGGACTATACTCTGTGAGTTACGTATCAAGTCCCTGTAAAAAGAATGATTTCCTTCCTGTGTAAGGAAAATGTTAAACTACACAAAACTCCACTCTGATTCAGGGAGTAAGGTGGACGTCCCGGCATGGTGTGAATGATTAAGGACCACATGCAGCGATGGGATCAGGCGTCCGCGCTGGCCAGAGTGCTGCTCGCTCATGTGCAGACCCTTACTGCGGTGAGGCCTGCGTGAGCCTGTGCTGTGCCTGGTGTCAGGGGACAGGCTCCGAGTCAGTCACAGTGTGCAGTCCTGCTGTGGGGACAGAGTGCAGCCATTGTTGGGTTAGTACAGTGGCGGGGATGTGCCTGCCGGCGTGATGATCAGGCAGGTCTTGACACAGCACAGACCTGAGCTGTGGGACTGGCCAGGAGAGCCAGGCTGCAGCTCAGGTGTAGGGCGTCTTGCAGTGAATTGCACTTGGAGATCTTCCACCTCTTGTGGAGGGGAGACGGCAGGCGGAGCCGGGGCTAGGCATTCCTGAGACAGGTGGAGGTGACAGCTTTGCTTGGGACAGAACTGCCAGACAGGATTGCCCATGTATCTGCCAGCCCTGGCCCCAGCAGGAGCCAGTTGGATGACTCATGGCTTCCACCTGCAGTTCACTTCACTGAAGAAGGCTGCCGGCCCAGGCCACGTGGTAAATCCCATGAGGTTCTCTCTGCCTGTGTGCCCCACTGCAGGGGAGGGAGGCAGTGAGTTTGCCATCTGCTGTGTGACATTGTGAGGGTGCGCAGAGCAGCTGGGGGTAGCCCTGATGCAGTTACTGCATTAGATGGACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCA	pathogenic	328,167
Evaluate this variant at chromosome 22, position 46355444, gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	ACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCC	ACACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCCN	pathogenic	328,176
Gene mutation in TRMU (tRNA mitochondrial 2-thiouridylase) at chromosome 22, position 46355446—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	ACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCCCT	ACTGTGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCCCTNNNNNNNNNNNNNNNNNNN	pathogenic	328,177
Is the variant located on chromosome 22 at position 46355450, gene TRMU (tRNA mitochondrial 2-thiouridylase), benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic; ['Acute_infantile_liver_failure_due_to_synthesis_defect_of_mtDNA-encoded_proteins', 'Aminoglycoside-induced_deafness']	TGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCCCTGCTC	TGAAGACGTGCAGCTATGTCATGGGCTCAGCAAGAAGGGCCCCTGGCGTCACACAGGGCACCCAGCCGCATCCTGGGCCTAGGGTCAGGGGCTCCTACAGCTGGAACCTGCACCTTCTGGGGCACAAGGTGCCTTCTTTGTGGCCACCACACCCCATGTCCAGCCCAGGCCTGGACAATGATGAGATGTGCTCAGGTGCTTGGTCAGGGCTGGCTTTGGTGGTTGGAGAATCGTATCTTCCTAGTGAGTTACACCATTGCTGGGCCTGCTCTGGGCTGCCCTCCCAGCATCTGCCTTCATGATGAGGCGTGACATGTGGGCTGTAACTTGTTGCCCAGCCTCATGGAGAAACTGTCTTTCTGTAGGTTGGTTCCTGTATACCTTGGGCCAGAGAGCAAACATAGGTGGCCTGAGAGAGCCCTGGTACGTGGTGGAGAAGGACAGCGTCAAGGGTGACGTGTTTGTGGTGAGTGGGCCGGCCTCTGAGACAGCACTGGGGCTGGTTCTGGCAGGGCCAGCAGTGCTTCCAGACCAGGGCTTGAGAAGGCCTCCAGCAGCCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCCCTGCTCN	pathogenic	328,178
The genetic variant at chromosome 22, position 46356007, affecting gene TRMU (tRNA mitochondrial 2-thiouridylase): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Aminoglycoside-induced_deafness']	CCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCCCTGCTCCTGGACTCCAGAGTAGGTGCCTGCGATGCTGACCTGTGTCCTTGGCTCTCTTCCTCTTGCTGGGCTTGAGTCCTTCGTAGCGTGTTGTTGGTGCCTCAAGACAGGTTCCTGCGGGGACCAGAGGTGCATTCCCCTTCTCTGGGTGGGAAGGTTCCAGAGGCAGCCAGGTGGTGCGCAGAGGGCCTTGCCCAGATGCCCTGAGTTCTTGCTGGTGCGTCAGGGTGGGGGCTGCCATGGGGCCCACTGTCCATCCTGACCCCTCCTCCCATCTCCCCACTGGGTGTCCCCTGACCTGGGGCACCCTTCCTTCTAGCCTAGGCCCCCACGCAGCAGGGAGTGTCCTGAGGGTGAGGAGTGGGCCAGAACCCCGCAGGCCAGGTGAGGAAACGGGGCCTAAGGTGGAGCCGTGGCCCTTGCTGGGCTGGGGTGGGGAGGTGGGGGGTGTGGGGTCAGTGCTGCCCTGGCCAGGGGCAAGCCCCAGCTCTACCAGGCAGGCAGAGCGCTGGCCAGTGGGACCAGACAGGCCCCTGGGGATCCTCGGCCCAGCTGGGCATGGA	CCGTGGCTTCCTGGAGGCTGTGACTAACTCTGTTCCTGTCCTTGGTCCCCTGCCTTTCCTGGGACTGGCCATGGTGGCAGGAGAGTTTTAAGGTATTCATTAGGCTGAGTTGTATGCTGGTCTCTTAATCATCCCTGAACCCCGATACACAGATACAGTTTCTCCAATTTTATGAAAGAGGACAGCGACGCCCAGAGCTTGGGTGGCTCATCCGGTGGAGAGGGCATGGCCTCAGTGCCAAGGATGGTGCCCACCATGGTAGGATCCAGTGAGTTGTTGTCAGGCAGGTGCAGATGGCCAAGCCAGGATCAAACCAAGCCTTCCACCACAGTGGGGACCTTACCACTGTGACCCTGGCCTCAAAGCAGGGCCGCTCAGTGGCGGCAAGCTCACCCCACCTTCAGGGGACCTTGCCAGTGTCTAGAGGCATTTTTGGTTGTCACAGCTTGGGTGGAAAAGCAAGGACGCGGGTGCTGCTGCATCTGTGGGTCAGGCCGGGGATGCTGCTTGCCGTGTTCAGCACAGCCTCTTCCCTGAGTGACCCGGCCTCCACCTTGGCGCGTGGAGCTGAGAAGGCCCACTCTCAGCACCCTGGCTGCCGGCTCATGTTCTGGCACGAATGCTGGGGCGCCTTCTCTTAGACGGAGGCGGGGGCCAGCAGGCCCCACCCACCGATTCCAGGACATCTCCTTACTAGGAAGACCTGTGGGGAGAAAAGCCTGGCTGCGAATGAATTAAATGATCTAGATTTCAGTTTGCTGTGAGAAGACCAGAAGGGTTAACCAACGGCCTCCTGTCCCTGGACGGGTCTTGGTGCCTGCTTAGAACCCAAAGCCCTTAACTTCATGCTCCTCGTCCTGCTTCAGGGGCGGGGCTTGGCACAATCCCAGGAGGTGCCAGGTCTCAATGGCCCGAGGCCATGGGTGGGTGACAGGGAGCAGGGGCCTCAGAACCAACCTAGGGTATCTGGGGCCCCCCAGACCAGGGCCAGTCCTGGGGCACCTGTGGGAAGCCAGCAGCTACCAGTCCCTCCTTTCTCCTCAGCCATTTGGTGTGTGGAGGAATTCCTGGGGTGGCCTTGAGAGAAGAGCCCGTGGTGTGGCTGGCCCCTGTCCCTGCGAATAGAAAAACCAGTCCTCGAGGGGGGCCGTGCTGCTGCCCCACAGGTGGTTGCAGGTAGAGGGCCTGAGTCAGACTTGAACCTGCAGCATTCACTGTCATGGGCTCGGATCTCACCCCTGCCTCTTGCCCACTCTGACATGGTACTTCCTTCCTGGGCCTTAGTCTCCTCATCTGTAAAATGGGGATTCAAAGGCCCGGCGGGTGATGAGATGAATTTCTGTGGGTAGAACACTTCGAGCGGTGCCAGCACCGTTACCTGTGTGTGTGTGTGCTGGTAGGACAGTTGTTCCCAGGGACCACACTGAGGCCGGCCTTGGGGCCAGGTGCCCCTCGGCGTCCCCACCTTCACATTCCATTCTGCAGGCCCCCCGGACAGACCACCCAGCCCTGTACAGGGACCTGCTGAGGACCAGCCGCGTGCACTGGATTGCGGAGGAGCCTCCCGCAGCACTGGTCCGGGACAAGATGATGGAGTGCCACTTCCGATTCCGCCACCAGATGGCACTAGGTGACTGACGGGAGGGCTCCTGAGGACGGGCCCCTTGAAGCTGAGCTTCCTGAGGCCAGATTTGGGCCAGGGATGGGAGACCCTGGGGTAGGAAAGTCCCGTTGTGGAGATCATTTGGAGATTACCTAAAGTATTTAGAACTCCCGTGTCCTGTGCCTGCCCTGAGCGAGGCCTGGGGGTGCTGGGAGCAGATGCAGGCAGGCCCCGGCGTGTTGGGCTGAAGCAAGTGTGTACACTGCCCCGCAGTGTCCTGCTGCGTCCAGGGCCCAGGCTGGTGCCCTGCCCTTCCCCTCTAAGCAGGGGTTTTTGACCCCGTGGGCTGGTGCTCCTTTCTCCCTGGGGGCCTGAGGTCGACCAGGAAAGGCCTGTGCCCCCTCCAAGGGCCCCTCTCTTCTACCCAGTGCCCTGTGTGCTGACCCTCAATCAATCAAGATGGCACCGTGTGGGTGACAGCTGTGCAGGCTGTGCGTGCCCTTGCCACAGGACAGGTGCGTGGGGTGTGGGGGTGAGCCCGGGGAGGACTGTACTGCTCTGCACCCTGCCAGGGCACCCGGGTTACAGAGGAAGGGGCTGAGGCCCAGGAGTAGGGTGTGCTCGGGTCACACAGCTGGTGAGGGCAGAGTGCCACCAGCCCTGCCCTGGGGGCTCCTCCCACAGTGACAACTGTGAGAGGATTTCCACTCTGGTGTCACCAACCAGCCAGTTCCTGCTCGGGCCCTGAGAGGCTCAGCTGCTGCCCGGGCCCCAGAAGCGAGGACAGAAAATGGAAGGGGCATGAGGACAGTGCTCAAAGAGGCAGAGGGTCGGGGCCCCTGTGGGCCGAGTGTGCAGGAGCTCCCAGGGTGGGCGCCTGGTGGGTGTAGGCCTGAGGAATCTCCAGGGGCAGGTGGTGGGAGGGAACCTGGGGTGAGGGAAGCGGAAGCATCCTCTGGCTGCCACCATGCTCCTTCCTGTCACAGCTCCACATTCCCAAGGGGTGCAGAGACCTGCCAGTCCCTTGGAGTCCCAGGAGAGGCCCCTGTGACTGTCCCACTCAGGGAGAGGTACCCTGAAGACCCTCCCTAGTGAAGCCACTGGGTGCCCCAGGCCTCTCCTCTCCTGTTCAGCAGCAGCAGCAGCAGCAAAACCCTGCTCCCCTGGGAGCTCAGTGCCTGGTGCTCCGAGCACAGGCCAGGCCCCATAGGGGAGCACTCTGCCCCTGCCTGCCCTCGGCTGGCTCCCTGTGGCACCCCTGATGCCAGGGTCTCTCCCCTACAGTTTGCTGTGTTCTACAAGGGGGACGAGTGCCTGGGCAGCGGGAAGATCCTGCGGCTGGGGCCGTCTGCCTACACGCTCCAGAAGGGCCAGCGCAGAGCTGGGATGGCCACTGAGAGCCCCAGTGACAGCCCAGAAGATGGTCCAGGCCTGAGTCCCTTGCTCTGACAGAGATGGATCTGCTAGAAGGAACCTGGAGAGCAGGACCCATGGCTGGGCGGCTGGTGAGCAGTCCAGGTGCCCAAGGGCCAGCTTGCTGCTGCCCAAAGCAGAGGAAGCCGGGCTGGCTGAGGGTCCGAAAAGCCTGCAGGGGCCCGGCGAGCCCCAGGAAGAGCCTCAGCTCCAGGCTGGGGCTCTGGCTGCTGGAGCATCTGCTGGCTGGTGGGGTGGCCCGAGTTCCCCTTCACCGCCCCCAGGGAGGGTTTCCCACCTCAGAGTACACCGAGGGGACCTGCAGAGGGGGCTGTCGGGACAGCGTGGAATAAACATTATTTCAAGGACACATAGTCTGATCGCTGCTTCCACTGGGGCCCAGGGGGCTCCACATCACTGACTCCCTGGCGTGGAAAGGCAGGTGGACTGCAGACGCAGCCATGGCAACCTGCGTACCTCTCCCTGAGGTCCCAGCTGCTCCATCCTCTGCCCCCGTATCCCTGCTCCTGGACTCCAGAGTAGGTGCCTGCGATGCTGACCTGTGTCCTTGGCTCTCTTCCTCTTGCTGGGCTTGAGTCCTTCGTAGCGTGTTGTTGGTGCCTCAAGACAGGTTCCTGCGGGGACCAGAGGTGCATTCCCCTTCTCTGGGTGGGAAGGTTCCAGAGGCAGCCAGGTGGTGCGCAGAGGGCCTTGCCCAGATGCCCTGAGTTCTTGCTGGTGCGTCAGGGTGGGGGCTGCCATGGGGCCCACTGTCCATCCTGACCCCTCCTCCCATCTCCCCACTGGGTGTCCCCTGACCTGGGGCACCCTTCCTTCTAGCCTAGGCCCCCACGCAGCAGGGAGTGTCCTGAGGGTGAGGAGTGGGCCAGAACCCCGCAGGCCAGGTGAGGAAACGGGGCCTAAGGTGGAGCCGTGGCCCTTGCTGGGCTGGGGTGGGGAGGTGGGGGGTGTGGGGTCAGTGCTGCCCTGGCCAGGGGCAAGCCCCAGCTCTACCAGGCAGGCAGAGCGCTGGCCAGTGGGACCAGACAGGCCCCTGGGGATCCTCGGCCCAGCTGGGCA	pathogenic	328,185
A genetic variant at chromosome 22, position 49904057, affecting gene ALG12 (ALG12 alpha-1,6-mannosyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['ALG12-congenital_disorder_of_glycosylation']	ATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAACGTACACGTGTGCACTGTGTGTGGTGTGCATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCATGTGTGCACTGTATGCATAGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGCATGCGTGTGTGGTGTGTGTGCATGTATGCATGGTGTGTGCATACGTGTGCAGCAGCACCTGGTCCCATCTCCAGTGCCCAGCAGCATCACACGCACTTTGGTGCTTTATAAATGCATGGTCAGTGAGGCTGACAGCACCAAGCTGTCCCTTTACCATAACACCTGGAATAGTCACCTGTGATAAGCTATCACATAGGAAACATTTTTAAAATTTCATTCTCATTATTTTCTGTAATCTTGAGAGGTTCCAATCAACATTTATTGCCTTATTCTTTTTATCTCATTCCTTTTTGAATGTGTTTATCTCCTAAGATTTTATCTGTGATGGAGATGGGATGCCTGTGAATACAAAAGTTGCAGTGGTGGCACCAGGGTGGGGGGGTGCGGCCGGGGCCACCATGGTCTCCCCTGAGAGGGGGTGCTGTCTTAGGTGCCCCAAGAGGCCCTCGGGCAGCAAGCGTGGGGTGCTGCCAAAATACAGCTCCCCCTGGGTGGGCAGGACACACGTGGCCTCCTGGCAGACAGGTGCCTGGGTGAGCCCGCTGCTCCTGATTAGTCATGAATGGCACCTGGTCTGGGCGACAGTCACCCGCAGGAAGCCCTGAGCTGGCCACCATCACCCTGGGCAGTGGCTCCCGGGGTGCCAACAAGACCTGGGCCCCTCGTTCTTTGGTGCTGAGAGCCCCAGCTGAGGCTGTGGAGGAGGCCCTGGACCTGGTCTGGTGTCTGTCAGAGGCAGGTGCCCAGTCCTTTGACTTGCTTCTCTGAATTGTCATAATTGTGCTGGAATTGTGCCAGAAACTGGTAGTGATAACAGCTCCTGGAAGGCCTGTGGCTGCTGAGGGCTGCCTGGTCCCCCTCAGGACGGCCGGGGGAGCCTCTCCAGAAGCACCAGCTTTGTCTGCAGGTGGACGTTGAAGGGGGGCAGTTGGGTCAGGTTCAGACTCACACCTGTGGTCCCCACGACGCTGGCCAGGACCCGGTGTGTGTCCCTGTAGAGGGCCAGGAGCCCAGGGGCCGCCTCCATGAGGATGTGTGTGTATGCCAGCATGCCTGTCCCCGGCTGCACATCCTCCCTCTTGTCGTACCTGTGGGATGAGAGCTGGTGGTCCTGCCCAGGGCCCCCACATCGCCCTGTCCCCCGCCCCCAAGGGGCCCTCACATGGCCTCTGGGAGGGCCGTGCTGTGTGTGGATCCTACCTCCAGGCGCTGTTGACTTGGAGAAACCGAGACACACCTGTCTGGGCGGCTGCCACGTCAATGTGCAGAAGGACGTCTAGGAAAACCAGGCCTGCCGTCAGAGCCCAGCCCTGCAGTCGGAGCCACAGCAGTCCCCAGGCAGTGCCCCCAGCACCCACCTGTCTGGGGGGGCACCAGCTGGTGCAGCCTCTGCATTGCGACGCCACCTGGGTAGTTGAAATGGGACACATACAGGGCCGTGGCTGAGTAGGCGGCATTCACCACGAGGTGTCCGATCACAAGCAGAGACCCCGCTTTGTACAGCCAAGACTTTTTATAGTTATTCAGCCTGAAAAAAGAATGGTTACACATCATAGGCAGAACGTAATGACAATAAAATTAATCTACCTACAAAACATACTAGGAGCATAACCTGCTGTTCAACTTCACCAAGTCATAACAAAGAGTTCACCACCAAATAAAACAGAGTCAGTAACCCGTAAAAGTGGTTAAGATACTGCCTCAAGAATTGTCTGTGAAATTCTACCCAAGATGCCAATTTAAAATTTAGATGAGATTTTAAAATATATATATATTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGCCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGCCCATCTAATTTCTGTATTTTTAGTAGAGACAGGCTTTCACTATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTAAAAATATATTTTCAAACAATCCCAAGTGACTGTGTAGGTCAGAGTGCCACCCGCGCGGCCAAGCCCACTCCCAGCAGGTCTGAGTGAACTCTCTGGGACAGGGTGCCGCCGGTTCTCTCACAATCGACTATGCCAATCTCAGGATCCTACGGCAGAGTTAGCAGCTGCCACAGACAGTGTGGCCCACGAAGATGAGGCTCTTTATTAGCTGGTCCTTAACGGAAAAGCTTGCCAACCCTGGTCTAAACGCCCTGAACCCCCGATCAAGACTCACTCTCTTCCAAACCCACCAGGCTCCTCGGAGCCCTCTTCTCCACAGGCCCTGCCCTTTGCTATGGTTTGGATCTGCGTCCCCACCAAATCTCATGTCCAACTGTGATCCCCAATGCTGGAGGTGGGGCCTGGTGGGAGGTGACTGGGTCATGGAGGTGGAGCCCTCAGGAATGGATTAGCGCCATCCCCTCCATGCTGTTCTCCTCATACCGAGTGAGTTCTCGAGAGGTCTGCTTGTTTGAAAATGGGTGACACCTCCCCCGTCCCTCTTCGTCCTGCTTTGGCCACATAAAAGCGTGCCCGCTTCCCTCTCGCCTTCCGCCATAATGGAAAGTTTTCCCAGGCCAGCCTGGAAGCTGAGCAGACACCAGTACCACGCTTCCCGTACAGCCTGCGGAACCGCGAGCCAATGAAGCCTCCTCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAA	ATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAACGTACACGTGTGCACTGTGTGTGGTGTGCATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCATGTGTGCACTGTATGCATAGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGCATGCGTGTGTGGTGTGTGTGCATGTATGCATGGTGTGTGCATACGTGTGCAGCAGCACCTGGTCCCATCTCCAGTGCCCAGCAGCATCACACGCACTTTGGTGCTTTATAAATGCATGGTCAGTGAGGCTGACAGCACCAAGCTGTCCCTTTACCATAACACCTGGAATAGTCACCTGTGATAAGCTATCACATAGGAAACATTTTTAAAATTTCATTCTCATTATTTTCTGTAATCTTGAGAGGTTCCAATCAACATTTATTGCCTTATTCTTTTTATCTCATTCCTTTTTGAATGTGTTTATCTCCTAAGATTTTATCTGTGATGGAGATGGGATGCCTGTGAATACAAAAGTTGCAGTGGTGGCACCAGGGTGGGGGGGTGCGGCCGGGGCCACCATGGTCTCCCCTGAGAGGGGGTGCTGTCTTAGGTGCCCCAAGAGGCCCTCGGGCAGCAAGCGTGGGGTGCTGCCAAAATACAGCTCCCCCTGGGTGGGCAGGACACACGTGGCCTCCTGGCAGACAGGTGCCTGGGTGAGCCCGCTGCTCCTGATTAGTCATGAATGGCACCTGGTCTGGGCGACAGTCACCCGCAGGAAGCCCTGAGCTGGCCACCATCACCCTGGGCAGTGGCTCCCGGGGTGCCAACAAGACCTGGGCCCCTCGTTCTTTGGTGCTGAGAGCCCCAGCTGAGGCTGTGGAGGAGGCCCTGGACCTGGTCTGGTGTCTGTCAGAGGCAGGTGCCCAGTCCTTTGACTTGCTTCTCTGAATTGTCATAATTGTGCTGGAATTGTGCCAGAAACTGGTAGTGATAACAGCTCCTGGAAGGCCTGTGGCTGCTGAGGGCTGCCTGGTCCCCCTCAGGACGGCCGGGGGAGCCTCTCCAGAAGCACCAGCTTTGTCTGCAGGTGGACGTTGAAGGGGGGCAGTTGGGTCAGGTTCAGACTCACACCTGTGGTCCCCACGACGCTGGCCAGGACCCGGTGTGTGTCCCTGTAGAGGGCCAGGAGCCCAGGGGCCGCCTCCATGAGGATGTGTGTGTATGCCAGCATGCCTGTCCCCGGCTGCACATCCTCCCTCGTCGTACCTGTGGGATGAGAGCTGGTGGTCCTGCCCAGGGCCCCCACATCGCCCTGTCCCCCGCCCCCAAGGGGCCCTCACATGGCCTCTGGGAGGGCCGTGCTGTGTGTGGATCCTACCTCCAGGCGCTGTTGACTTGGAGAAACCGAGACACACCTGTCTGGGCGGCTGCCACGTCAATGTGCAGAAGGACGTCTAGGAAAACCAGGCCTGCCGTCAGAGCCCAGCCCTGCAGTCGGAGCCACAGCAGTCCCCAGGCAGTGCCCCCAGCACCCACCTGTCTGGGGGGGCACCAGCTGGTGCAGCCTCTGCATTGCGACGCCACCTGGGTAGTTGAAATGGGACACATACAGGGCCGTGGCTGAGTAGGCGGCATTCACCACGAGGTGTCCGATCACAAGCAGAGACCCCGCTTTGTACAGCCAAGACTTTTTATAGTTATTCAGCCTGAAAAAAGAATGGTTACACATCATAGGCAGAACGTAATGACAATAAAATTAATCTACCTACAAAACATACTAGGAGCATAACCTGCTGTTCAACTTCACCAAGTCATAACAAAGAGTTCACCACCAAATAAAACAGAGTCAGTAACCCGTAAAAGTGGTTAAGATACTGCCTCAAGAATTGTCTGTGAAATTCTACCCAAGATGCCAATTTAAAATTTAGATGAGATTTTAAAATATATATATATTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGCCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGCCCATCTAATTTCTGTATTTTTAGTAGAGACAGGCTTTCACTATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTAAAAATATATTTTCAAACAATCCCAAGTGACTGTGTAGGTCAGAGTGCCACCCGCGCGGCCAAGCCCACTCCCAGCAGGTCTGAGTGAACTCTCTGGGACAGGGTGCCGCCGGTTCTCTCACAATCGACTATGCCAATCTCAGGATCCTACGGCAGAGTTAGCAGCTGCCACAGACAGTGTGGCCCACGAAGATGAGGCTCTTTATTAGCTGGTCCTTAACGGAAAAGCTTGCCAACCCTGGTCTAAACGCCCTGAACCCCCGATCAAGACTCACTCTCTTCCAAACCCACCAGGCTCCTCGGAGCCCTCTTCTCCACAGGCCCTGCCCTTTGCTATGGTTTGGATCTGCGTCCCCACCAAATCTCATGTCCAACTGTGATCCCCAATGCTGGAGGTGGGGCCTGGTGGGAGGTGACTGGGTCATGGAGGTGGAGCCCTCAGGAATGGATTAGCGCCATCCCCTCCATGCTGTTCTCCTCATACCGAGTGAGTTCTCGAGAGGTCTGCTTGTTTGAAAATGGGTGACACCTCCCCCGTCCCTCTTCGTCCTGCTTTGGCCACATAAAAGCGTGCCCGCTTCCCTCTCGCCTTCCGCCATAATGGAAAGTTTTCCCAGGCCAGCCTGGAAGCTGAGCAGACACCAGTACCACGCTTCCCGTACAGCCTGCGGAACCGCGAGCCAATGAAGCCTCCTCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAANN	pathogenic	328,271
A mutation at chromosome position 49904342 on chromosome 22 in gene ALG12 (ALG12 alpha-1,6-mannosyltransferase): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['ALG12-congenital_disorder_of_glycosylation']	CACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGCATGCGTGTGTGGTGTGTGTGCATGTATGCATGGTGTGTGCATACGTGTGCAGCAGCACCTGGTCCCATCTCCAGTGCCCAGCAGCATCACACGCACTTTGGTGCTTTATAAATGCATGGTCAGTGAGGCTGACAGCACCAAGCTGTCCCTTTACCATAACACCTGGAATAGTCACCTGTGATAAGCTATCACATAGGAAACATTTTTAAAATTTCATTCTCATTATTTTCTGTAATCTTGAGAGGTTCCAATCAACATTTATTGCCTTATTCTTTTTATCTCATTCCTTTTTGAATGTGTTTATCTCCTAAGATTTTATCTGTGATGGAGATGGGATGCCTGTGAATACAAAAGTTGCAGTGGTGGCACCAGGGTGGGGGGGTGCGGCCGGGGCCACCATGGTCTCCCCTGAGAGGGGGTGCTGTCTTAGGTGCCCCAAGAGGCCCTCGGGCAGCAAGCGTGGGGTGCTGCCAAAATACAGCTCCCCCTGGGTGGGCAGGACACACGTGGCCTCCTGGCAGACAGGTGCCTGGGTGAGCCCGCTGCTCCTGATTAGTCATGAATGGCACCTGGTCTGGGCGACAGTCACCCGCAGGAAGCCCTGAGCTGGCCACCATCACCCTGGGCAGTGGCTCCCGGGGTGCCAACAAGACCTGGGCCCCTCGTTCTTTGGTGCTGAGAGCCCCAGCTGAGGCTGTGGAGGAGGCCCTGGACCTGGTCTGGTGTCTGTCAGAGGCAGGTGCCCAGTCCTTTGACTTGCTTCTCTGAATTGTCATAATTGTGCTGGAATTGTGCCAGAAACTGGTAGTGATAACAGCTCCTGGAAGGCCTGTGGCTGCTGAGGGCTGCCTGGTCCCCCTCAGGACGGCCGGGGGAGCCTCTCCAGAAGCACCAGCTTTGTCTGCAGGTGGACGTTGAAGGGGGGCAGTTGGGTCAGGTTCAGACTCACACCTGTGGTCCCCACGACGCTGGCCAGGACCCGGTGTGTGTCCCTGTAGAGGGCCAGGAGCCCAGGGGCCGCCTCCATGAGGATGTGTGTGTATGCCAGCATGCCTGTCCCCGGCTGCACATCCTCCCTCTTGTCGTACCTGTGGGATGAGAGCTGGTGGTCCTGCCCAGGGCCCCCACATCGCCCTGTCCCCCGCCCCCAAGGGGCCCTCACATGGCCTCTGGGAGGGCCGTGCTGTGTGTGGATCCTACCTCCAGGCGCTGTTGACTTGGAGAAACCGAGACACACCTGTCTGGGCGGCTGCCACGTCAATGTGCAGAAGGACGTCTAGGAAAACCAGGCCTGCCGTCAGAGCCCAGCCCTGCAGTCGGAGCCACAGCAGTCCCCAGGCAGTGCCCCCAGCACCCACCTGTCTGGGGGGGCACCAGCTGGTGCAGCCTCTGCATTGCGACGCCACCTGGGTAGTTGAAATGGGACACATACAGGGCCGTGGCTGAGTAGGCGGCATTCACCACGAGGTGTCCGATCACAAGCAGAGACCCCGCTTTGTACAGCCAAGACTTTTTATAGTTATTCAGCCTGAAAAAAGAATGGTTACACATCATAGGCAGAACGTAATGACAATAAAATTAATCTACCTACAAAACATACTAGGAGCATAACCTGCTGTTCAACTTCACCAAGTCATAACAAAGAGTTCACCACCAAATAAAACAGAGTCAGTAACCCGTAAAAGTGGTTAAGATACTGCCTCAAGAATTGTCTGTGAAATTCTACCCAAGATGCCAATTTAAAATTTAGATGAGATTTTAAAATATATATATATTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGCCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGCCCATCTAATTTCTGTATTTTTAGTAGAGACAGGCTTTCACTATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTAAAAATATATTTTCAAACAATCCCAAGTGACTGTGTAGGTCAGAGTGCCACCCGCGCGGCCAAGCCCACTCCCAGCAGGTCTGAGTGAACTCTCTGGGACAGGGTGCCGCCGGTTCTCTCACAATCGACTATGCCAATCTCAGGATCCTACGGCAGAGTTAGCAGCTGCCACAGACAGTGTGGCCCACGAAGATGAGGCTCTTTATTAGCTGGTCCTTAACGGAAAAGCTTGCCAACCCTGGTCTAAACGCCCTGAACCCCCGATCAAGACTCACTCTCTTCCAAACCCACCAGGCTCCTCGGAGCCCTCTTCTCCACAGGCCCTGCCCTTTGCTATGGTTTGGATCTGCGTCCCCACCAAATCTCATGTCCAACTGTGATCCCCAATGCTGGAGGTGGGGCCTGGTGGGAGGTGACTGGGTCATGGAGGTGGAGCCCTCAGGAATGGATTAGCGCCATCCCCTCCATGCTGTTCTCCTCATACCGAGTGAGTTCTCGAGAGGTCTGCTTGTTTGAAAATGGGTGACACCTCCCCCGTCCCTCTTCGTCCTGCTTTGGCCACATAAAAGCGTGCCCGCTTCCCTCTCGCCTTCCGCCATAATGGAAAGTTTTCCCAGGCCAGCCTGGAAGCTGAGCAGACACCAGTACCACGCTTCCCGTACAGCCTGCGGAACCGCGAGCCAATGAAGCCTCCTCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAAGTTTGTCCTCCTCCGGATAAGGCCGACTGGCACAGCAGGGGCCCTTGCATGGAGCAGCCCCTCACGCCCAGCACACCAGGCCTCAAAGACACAGAGCTGGGTCCAGTTCCCACTGGATCTTCTTCCCTGCTGGAAAAGCCTGTCACCGAATACAATCCATCCGCGCCGCTCTCCCCGTCTTTCCTACCCTCTTTTCCATGACTCTGGCTGGGGTCTGCTCCTCCTCCAGCCCTGAGCCGACCCCTGAGACGAGAGGGAGCCAAAGGCACAGAAAAGCAGAGGCAG	CACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGCATGCGTGTGTGGTGTGTGTGCATGTATGCATGGTGTGTGCATACGTGTGCAGCAGCACCTGGTCCCATCTCCAGTGCCCAGCAGCATCACACGCACTTTGGTGCTTTATAAATGCATGGTCAGTGAGGCTGACAGCACCAAGCTGTCCCTTTACCATAACACCTGGAATAGTCACCTGTGATAAGCTATCACATAGGAAACATTTTTAAAATTTCATTCTCATTATTTTCTGTAATCTTGAGAGGTTCCAATCAACATTTATTGCCTTATTCTTTTTATCTCATTCCTTTTTGAATGTGTTTATCTCCTAAGATTTTATCTGTGATGGAGATGGGATGCCTGTGAATACAAAAGTTGCAGTGGTGGCACCAGGGTGGGGGGGTGCGGCCGGGGCCACCATGGTCTCCCCTGAGAGGGGGTGCTGTCTTAGGTGCCCCAAGAGGCCCTCGGGCAGCAAGCGTGGGGTGCTGCCAAAATACAGCTCCCCCTGGGTGGGCAGGACACACGTGGCCTCCTGGCAGACAGGTGCCTGGGTGAGCCCGCTGCTCCTGATTAGTCATGAATGGCACCTGGTCTGGGCGACAGTCACCCGCAGGAAGCCCTGAGCTGGCCACCATCACCCTGGGCAGTGGCTCCCGGGGTGCCAACAAGACCTGGGCCCCTCGTTCTTTGGTGCTGAGAGCCCCAGCTGAGGCTGTGGAGGAGGCCCTGGACCTGGTCTGGTGTCTGTCAGAGGCAGGTGCCCAGTCCTTTGACTTGCTTCTCTGAATTGTCATAATTGTGCTGGAATTGTGCCAGAAACTGGTAGTGATAACAGCTCCTGGAAGGCCTGTGGCTGCTGAGGGCTGCCTGGTCCCCCTCAGGACGGCCGGGGGAGCCTCTCCAGAAGCACCAGCTTTGTCTGCAGGTGGACGTTGAAGGGGGGCAGTTGGGTCAGGTTCAGACTCACACCTGTGGTCCCCACGACGCTGGCCAGGACCCGGTGTGTGTCCCTGTAGAGGGCCAGGAGCCCAGGGGCCGCCTCCATGAGGATGTGTGTGTATGCCAGCATGCCTGTCCCCGGCTGCACATCCTCCCTCTTGTCGTACCTGTGGGATGAGAGCTGGTGGTCCTGCCCAGGGCCCCCACATCGCCCTGTCCCCCGCCCCCAAGGGGCCCTCACATGGCCTCTGGGAGGGCCGTGCTGTGTGTGGATCCTACCTCCAGGCGCTGTTGACTTGGAGAAACCGAGACACACCTGTCTGGGCGGCTGCCACGTCAATGTGCAGAAGGACGTCTAGGAAAACCAGGCCTGCCGTCAGAGCCCAGCCCTGCAGTCGGAGCCACAGCAGTCCCCAGGCAGTGCCCCCAGCACCCACCTGTCTGGGGGGGGCACCAGCTGGTGCAGCCTCTGCATTGCGACGCCACCTGGGTAGTTGAAATGGGACACATACAGGGCCGTGGCTGAGTAGGCGGCATTCACCACGAGGTGTCCGATCACAAGCAGAGACCCCGCTTTGTACAGCCAAGACTTTTTATAGTTATTCAGCCTGAAAAAAGAATGGTTACACATCATAGGCAGAACGTAATGACAATAAAATTAATCTACCTACAAAACATACTAGGAGCATAACCTGCTGTTCAACTTCACCAAGTCATAACAAAGAGTTCACCACCAAATAAAACAGAGTCAGTAACCCGTAAAAGTGGTTAAGATACTGCCTCAAGAATTGTCTGTGAAATTCTACCCAAGATGCCAATTTAAAATTTAGATGAGATTTTAAAATATATATATATTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGCCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGCCCATCTAATTTCTGTATTTTTAGTAGAGACAGGCTTTCACTATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTAAAAATATATTTTCAAACAATCCCAAGTGACTGTGTAGGTCAGAGTGCCACCCGCGCGGCCAAGCCCACTCCCAGCAGGTCTGAGTGAACTCTCTGGGACAGGGTGCCGCCGGTTCTCTCACAATCGACTATGCCAATCTCAGGATCCTACGGCAGAGTTAGCAGCTGCCACAGACAGTGTGGCCCACGAAGATGAGGCTCTTTATTAGCTGGTCCTTAACGGAAAAGCTTGCCAACCCTGGTCTAAACGCCCTGAACCCCCGATCAAGACTCACTCTCTTCCAAACCCACCAGGCTCCTCGGAGCCCTCTTCTCCACAGGCCCTGCCCTTTGCTATGGTTTGGATCTGCGTCCCCACCAAATCTCATGTCCAACTGTGATCCCCAATGCTGGAGGTGGGGCCTGGTGGGAGGTGACTGGGTCATGGAGGTGGAGCCCTCAGGAATGGATTAGCGCCATCCCCTCCATGCTGTTCTCCTCATACCGAGTGAGTTCTCGAGAGGTCTGCTTGTTTGAAAATGGGTGACACCTCCCCCGTCCCTCTTCGTCCTGCTTTGGCCACATAAAAGCGTGCCCGCTTCCCTCTCGCCTTCCGCCATAATGGAAAGTTTTCCCAGGCCAGCCTGGAAGCTGAGCAGACACCAGTACCACGCTTCCCGTACAGCCTGCGGAACCGCGAGCCAATGAAGCCTCCTCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAAGTTTGTCCTCCTCCGGATAAGGCCGACTGGCACAGCAGGGGCCCTTGCATGGAGCAGCCCCTCACGCCCAGCACACCAGGCCTCAAAGACACAGAGCTGGGTCCAGTTCCCACTGGATCTTCTTCCCTGCTGGAAAAGCCTGTCACCGAATACAATCCATCCGCGCCGCTCTCCCCGTCTTTCCTACCCTCTTTTCCATGACTCTGGCTGGGGTCTGCTCCTCCTCCAGCCCTGAGCCGACCCCTGAGACGAGAGGGAGCCAAAGGCACAGAAAAGCAGAGGCA	pathogenic	328,274
A genetic alteration at chromosome 22, position 49904497, in gene ALG12 (ALG12 alpha-1,6-mannosyltransferase)—benign or pathogenic? If pathogenic, which disease(s) is involved?	pathogenic; ['ALG12-congenital_disorder_of_glycosylation', 'Inborn_genetic_diseases']	GTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGCATGCGTGTGTGGTGTGTGTGCATGTATGCATGGTGTGTGCATACGTGTGCAGCAGCACCTGGTCCCATCTCCAGTGCCCAGCAGCATCACACGCACTTTGGTGCTTTATAAATGCATGGTCAGTGAGGCTGACAGCACCAAGCTGTCCCTTTACCATAACACCTGGAATAGTCACCTGTGATAAGCTATCACATAGGAAACATTTTTAAAATTTCATTCTCATTATTTTCTGTAATCTTGAGAGGTTCCAATCAACATTTATTGCCTTATTCTTTTTATCTCATTCCTTTTTGAATGTGTTTATCTCCTAAGATTTTATCTGTGATGGAGATGGGATGCCTGTGAATACAAAAGTTGCAGTGGTGGCACCAGGGTGGGGGGGTGCGGCCGGGGCCACCATGGTCTCCCCTGAGAGGGGGTGCTGTCTTAGGTGCCCCAAGAGGCCCTCGGGCAGCAAGCGTGGGGTGCTGCCAAAATACAGCTCCCCCTGGGTGGGCAGGACACACGTGGCCTCCTGGCAGACAGGTGCCTGGGTGAGCCCGCTGCTCCTGATTAGTCATGAATGGCACCTGGTCTGGGCGACAGTCACCCGCAGGAAGCCCTGAGCTGGCCACCATCACCCTGGGCAGTGGCTCCCGGGGTGCCAACAAGACCTGGGCCCCTCGTTCTTTGGTGCTGAGAGCCCCAGCTGAGGCTGTGGAGGAGGCCCTGGACCTGGTCTGGTGTCTGTCAGAGGCAGGTGCCCAGTCCTTTGACTTGCTTCTCTGAATTGTCATAATTGTGCTGGAATTGTGCCAGAAACTGGTAGTGATAACAGCTCCTGGAAGGCCTGTGGCTGCTGAGGGCTGCCTGGTCCCCCTCAGGACGGCCGGGGGAGCCTCTCCAGAAGCACCAGCTTTGTCTGCAGGTGGACGTTGAAGGGGGGCAGTTGGGTCAGGTTCAGACTCACACCTGTGGTCCCCACGACGCTGGCCAGGACCCGGTGTGTGTCCCTGTAGAGGGCCAGGAGCCCAGGGGCCGCCTCCATGAGGATGTGTGTGTATGCCAGCATGCCTGTCCCCGGCTGCACATCCTCCCTCTTGTCGTACCTGTGGGATGAGAGCTGGTGGTCCTGCCCAGGGCCCCCACATCGCCCTGTCCCCCGCCCCCAAGGGGCCCTCACATGGCCTCTGGGAGGGCCGTGCTGTGTGTGGATCCTACCTCCAGGCGCTGTTGACTTGGAGAAACCGAGACACACCTGTCTGGGCGGCTGCCACGTCAATGTGCAGAAGGACGTCTAGGAAAACCAGGCCTGCCGTCAGAGCCCAGCCCTGCAGTCGGAGCCACAGCAGTCCCCAGGCAGTGCCCCCAGCACCCACCTGTCTGGGGGGGCACCAGCTGGTGCAGCCTCTGCATTGCGACGCCACCTGGGTAGTTGAAATGGGACACATACAGGGCCGTGGCTGAGTAGGCGGCATTCACCACGAGGTGTCCGATCACAAGCAGAGACCCCGCTTTGTACAGCCAAGACTTTTTATAGTTATTCAGCCTGAAAAAAGAATGGTTACACATCATAGGCAGAACGTAATGACAATAAAATTAATCTACCTACAAAACATACTAGGAGCATAACCTGCTGTTCAACTTCACCAAGTCATAACAAAGAGTTCACCACCAAATAAAACAGAGTCAGTAACCCGTAAAAGTGGTTAAGATACTGCCTCAAGAATTGTCTGTGAAATTCTACCCAAGATGCCAATTTAAAATTTAGATGAGATTTTAAAATATATATATATTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGCCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGCCCATCTAATTTCTGTATTTTTAGTAGAGACAGGCTTTCACTATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTAAAAATATATTTTCAAACAATCCCAAGTGACTGTGTAGGTCAGAGTGCCACCCGCGCGGCCAAGCCCACTCCCAGCAGGTCTGAGTGAACTCTCTGGGACAGGGTGCCGCCGGTTCTCTCACAATCGACTATGCCAATCTCAGGATCCTACGGCAGAGTTAGCAGCTGCCACAGACAGTGTGGCCCACGAAGATGAGGCTCTTTATTAGCTGGTCCTTAACGGAAAAGCTTGCCAACCCTGGTCTAAACGCCCTGAACCCCCGATCAAGACTCACTCTCTTCCAAACCCACCAGGCTCCTCGGAGCCCTCTTCTCCACAGGCCCTGCCCTTTGCTATGGTTTGGATCTGCGTCCCCACCAAATCTCATGTCCAACTGTGATCCCCAATGCTGGAGGTGGGGCCTGGTGGGAGGTGACTGGGTCATGGAGGTGGAGCCCTCAGGAATGGATTAGCGCCATCCCCTCCATGCTGTTCTCCTCATACCGAGTGAGTTCTCGAGAGGTCTGCTTGTTTGAAAATGGGTGACACCTCCCCCGTCCCTCTTCGTCCTGCTTTGGCCACATAAAAGCGTGCCCGCTTCCCTCTCGCCTTCCGCCATAATGGAAAGTTTTCCCAGGCCAGCCTGGAAGCTGAGCAGACACCAGTACCACGCTTCCCGTACAGCCTGCGGAACCGCGAGCCAATGAAGCCTCCTCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAAGTTTGTCCTCCTCCGGATAAGGCCGACTGGCACAGCAGGGGCCCTTGCATGGAGCAGCCCCTCACGCCCAGCACACCAGGCCTCAAAGACACAGAGCTGGGTCCAGTTCCCACTGGATCTTCTTCCCTGCTGGAAAAGCCTGTCACCGAATACAATCCATCCGCGCCGCTCTCCCCGTCTTTCCTACCCTCTTTTCCATGACTCTGGCTGGGGTCTGCTCCTCCTCCAGCCCTGAGCCGACCCCTGAGACGAGAGGGAGCCAAAGGCACAGAAAAGCAGAGGCAGAGCTCCCAGGAGCCCCCACTGAGGCGCGGCTACAGCAGCCAGAGGAGCCCCCAACCCAGGCACGGCCACGGCAGCCGGAGGAACCCCCAGCGAGGAACAGTCACGGCAGCCAGAGGAGCTCCCAGGCCCGAGGGCAGTGCGGGGCAGTCGGAGCT	GTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACATGTGCACTGTGTATGCATGGTAATGTGCACGCGTGCACTGTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATGGTAATGTGCACGTGTGCACTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTATGCATAGTGTGTGCACGTGTGCACTGTGTGTGGATGCATGGTAATGTGCACGTGTGCACTGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACGGTGTGTGGTGTGTATGCATGGTGTGTGCACGTGTGCACTGTGTGCATGCGTGTGTGGTGTGTGTGCATGTATGCATGGTGTGTGCATACGTGTGCAGCAGCACCTGGTCCCATCTCCAGTGCCCAGCAGCATCACACGCACTTTGGTGCTTTATAAATGCATGGTCAGTGAGGCTGACAGCACCAAGCTGTCCCTTTACCATAACACCTGGAATAGTCACCTGTGATAAGCTATCACATAGGAAACATTTTTAAAATTTCATTCTCATTATTTTCTGTAATCTTGAGAGGTTCCAATCAACATTTATTGCCTTATTCTTTTTATCTCATTCCTTTTTGAATGTGTTTATCTCCTAAGATTTTATCTGTGATGGAGATGGGATGCCTGTGAATACAAAAGTTGCAGTGGTGGCACCAGGGTGGGGGGGTGCGGCCGGGGCCACCATGGTCTCCCCTGAGAGGGGGTGCTGTCTTAGGTGCCCCAAGAGGCCCTCGGGCAGCAAGCGTGGGGTGCTGCCAAAATACAGCTCCCCCTGGGTGGGCAGGACACACGTGGCCTCCTGGCAGACAGGTGCCTGGGTGAGCCCGCTGCTCCTGATTAGTCATGAATGGCACCTGGTCTGGGCGACAGTCACCCGCAGGAAGCCCTGAGCTGGCCACCATCACCCTGGGCAGTGGCTCCCGGGGTGCCAACAAGACCTGGGCCCCTCGTTCTTTGGTGCTGAGAGCCCCAGCTGAGGCTGTGGAGGAGGCCCTGGACCTGGTCTGGTGTCTGTCAGAGGCAGGTGCCCAGTCCTTTGACTTGCTTCTCTGAATTGTCATAATTGTGCTGGAATTGTGCCAGAAACTGGTAGTGATAACAGCTCCTGGAAGGCCTGTGGCTGCTGAGGGCTGCCTGGTCCCCCTCAGGACGGCCGGGGGAGCCTCTCCAGAAGCACCAGCTTTGTCTGCAGGTGGACGTTGAAGGGGGGCAGTTGGGTCAGGTTCAGACTCACACCTGTGGTCCCCACGACGCTGGCCAGGACCCGGTGTGTGTCCCTGTAGAGGGCCAGGAGCCCAGGGGCCGCCTCCATGAGGATGTGTGTGTATGCCAGCATGCCTGTCCCCGGCTGCACATCCTCCCTCTTGTCGTACCTGTGGGATGAGAGCTGGTGGTCCTGCCCAGGGCCCCCACATCGCCCTGTCCCCCGCCCCCAAGGGGCCCTCACATGGCCTCTGGGAGGGCCGTGCTGTGTGTGGATCCTACCTCCAGGCGCTGTTGACTTGGAGAAACCGAGACACACCTGTCTGGGCGGCTGCCACGTCAATGTGCAGAAGGACGTCTAGGAAAACCAGGCCTGCCGTCAGAGCCCAGCCCTGCAGTCGGAGCCACAGCAGTCCCCAGGCAGTGCCCCCAGCACCCACCTGTCTGGGGGGGCACCAGCTGGTGCAGCCTCTGCATTGCGACGCCACCTGGGTAGTTGAAATGGGACACATACAGGGCCGTGGCTGAGTAGGCGGCATTCACCACGAGGTGTCCGATCACAAGCAGAGACCCCGCTTTGTACAGCCAAGACTTTTTATAGTATTCAGCCTGAAAAAAGAATGGTTACACATCATAGGCAGAACGTAATGACAATAAAATTAATCTACCTACAAAACATACTAGGAGCATAACCTGCTGTTCAACTTCACCAAGTCATAACAAAGAGTTCACCACCAAATAAAACAGAGTCAGTAACCCGTAAAAGTGGTTAAGATACTGCCTCAAGAATTGTCTGTGAAATTCTACCCAAGATGCCAATTTAAAATTTAGATGAGATTTTAAAATATATATATATTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAGTGCAGTGCCATGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCATGCCCATCTAATTTCTGTATTTTTAGTAGAGACAGGCTTTCACTATGTTGGCCAGGCTAGTCTTGAACTCCTGACCTCGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGCGCCCAGCCTAAAAATATATTTTCAAACAATCCCAAGTGACTGTGTAGGTCAGAGTGCCACCCGCGCGGCCAAGCCCACTCCCAGCAGGTCTGAGTGAACTCTCTGGGACAGGGTGCCGCCGGTTCTCTCACAATCGACTATGCCAATCTCAGGATCCTACGGCAGAGTTAGCAGCTGCCACAGACAGTGTGGCCCACGAAGATGAGGCTCTTTATTAGCTGGTCCTTAACGGAAAAGCTTGCCAACCCTGGTCTAAACGCCCTGAACCCCCGATCAAGACTCACTCTCTTCCAAACCCACCAGGCTCCTCGGAGCCCTCTTCTCCACAGGCCCTGCCCTTTGCTATGGTTTGGATCTGCGTCCCCACCAAATCTCATGTCCAACTGTGATCCCCAATGCTGGAGGTGGGGCCTGGTGGGAGGTGACTGGGTCATGGAGGTGGAGCCCTCAGGAATGGATTAGCGCCATCCCCTCCATGCTGTTCTCCTCATACCGAGTGAGTTCTCGAGAGGTCTGCTTGTTTGAAAATGGGTGACACCTCCCCCGTCCCTCTTCGTCCTGCTTTGGCCACATAAAAGCGTGCCCGCTTCCCTCTCGCCTTCCGCCATAATGGAAAGTTTTCCCAGGCCAGCCTGGAAGCTGAGCAGACACCAGTACCACGCTTCCCGTACAGCCTGCGGAACCGCGAGCCAATGAAGCCTCCTCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAAGTTTGTCCTCCTCCGGATAAGGCCGACTGGCACAGCAGGGGCCCTTGCATGGAGCAGCCCCTCACGCCCAGCACACCAGGCCTCAAAGACACAGAGCTGGGTCCAGTTCCCACTGGATCTTCTTCCCTGCTGGAAAAGCCTGTCACCGAATACAATCCATCCGCGCCGCTCTCCCCGTCTTTCCTACCCTCTTTTCCATGACTCTGGCTGGGGTCTGCTCCTCCTCCAGCCCTGAGCCGACCCCTGAGACGAGAGGGAGCCAAAGGCACAGAAAAGCAGAGGCAGAGCTCCCAGGAGCCCCCACTGAGGCGCGGCTACAGCAGCCAGAGGAGCCCCCAACCCAGGCACGGCCACGGCAGCCGGAGGAACCCCCAGCGAGGAACAGTCACGGCAGCCAGAGGAGCTCCCAGGCCCGAGGGCAGTGCGGGGCAGTCGGAGCTN	pathogenic	328,276
Does the variant impacting ALG12 (ALG12 alpha-1,6-mannosyltransferase) on chromosome 22, position 49907781, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['ALG12-congenital_disorder_of_glycosylation']	TCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAAGTTTGTCCTCCTCCGGATAAGGCCGACTGGCACAGCAGGGGCCCTTGCATGGAGCAGCCCCTCACGCCCAGCACACCAGGCCTCAAAGACACAGAGCTGGGTCCAGTTCCCACTGGATCTTCTTCCCTGCTGGAAAAGCCTGTCACCGAATACAATCCATCCGCGCCGCTCTCCCCGTCTTTCCTACCCTCTTTTCCATGACTCTGGCTGGGGTCTGCTCCTCCTCCAGCCCTGAGCCGACCCCTGAGACGAGAGGGAGCCAAAGGCACAGAAAAGCAGAGGCAGAGCTCCCAGGAGCCCCCACTGAGGCGCGGCTACAGCAGCCAGAGGAGCCCCCAACCCAGGCACGGCCACGGCAGCCGGAGGAACCCCCAGCGAGGAACAGTCACGGCAGCCAGAGGAGCTCCCAGGCCCGAGGGCAGTGCGGGGCAGTCGGAGCTGGGGGGCACCATCCCCTCCCCTGTAACAAGTGGCACCGGAAAGCACCTGACCGCTGCCTGAGATCAGGGACCGCATTGTGGGGCTTCCTCTCCAGCCAGAGTGGGCACCTCTCAATGCCCCAGGCCGCGGCCCTCCTGGCCTGTAGCCCTGCCGCCCCTCAATGCCCAGCGTGGCCTGAGTTGGCCTCCTGTTCCCATCAAGGCAGCAAACTCTGAACGGGCACAGAGCTGGCCAGCCTCAGCCCTGGGTTCTTCCGCAGCACCCACAGGGCCAGCAGTGATGGACTCTCCTGGGCCTGAGCCCCGGGTCCTTCCCCAGCACCCACAGGGCCCGGCAGTGATGGACTCTCCTGGCTCCCTGAGGCTTGCAACACTGAGTGGCAGCCGCGCTCAGACCACCCCACCCTCAGCCCAGGCAGTGCCCTCCCCAGGCCCTGCCAGGCCCCCAGCTCCACCTCCATCACCTGCTGCCTGCAGTCCCTCCCCGCAGGAAGCCCCCTGCCCTCCACAGGACCTTGAGCCTGGGCCACGCTGGGCCCTCTGCACCCAGCCATAGGCACCTCCCTCACCATCCCCCTCTTCCAGCCAGATGACCCGCCTTGACAAACGCCCTCAAGCCCGAGGCCCTGTCAGGATGGCCACGAACGCCCTTCCTCTACCTGACCTGTCGCCCTCAGAGCCTCCCAGGCCTGGCTGCCCCTGCCCTCTGCCGCTGCTACCTATGTGAGTGTCACTCTCCCATGACAGAGACTGGGACCGCTGGTGCATCACCATATGTGGACCAGTCACCAAATTAACCCAAGACAGAGACCACCTGAGCAAAGCCCTCTGTCAGCACAATGCCAGGCCGGTCCCATCCCATGCAGCCCTCAGGGAGGAGAGAGGACTGGGGTCACCCTCCTTTGACATAAGCGCCTAGTTCAACACACCCTGTGTTTATCTTAAAAAACAGCCCTGGTGGCTCACACCTGCAATCCCAGCACTTCCAGAGGAGGAGGCAGGAGGATGGCTTAACCCCCTAGGAGTTGAGGGGTGCAGTAAGCCCCACTCCAGCTGGGCGACAGAGCAAGACCCTGTTTCAAAAATTAAACACACACATACATCCCCCCAACAGTAAATCAGTGAACCTGTTTCCAATGAAACTATAAAAATGCATGTCACAAAAAGAGCACTCACAGGTAGGAGCAGCCTCTGGCAGCCGTGATGTTGAGCATGGGGAAGGCATAGATGATGAAGCGTAGCTCCTTGTGTGGCAGGAGGGAGTAGAGTGCCATGAAGCCCAGTGCCAGCACCGTCGGCGCGTGCGTCCTTCTGTCTACCAAGCCCAGGGGGATGAAGAGCAGGCTGCAGCCCAGGCCGCGGGGCAGGGCTGAGTAGAAGTACCACAGCAGCGGGGAGGTCTGCGGGCTGGGTTAAGGAGGCCACGCACCTGTCCACGCATGAGCCCGTGGGCTAGGTGGCAGGGTCAAGGTGGAGAAGACGCTTGAAGACAGTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCT	TCTTTATAAATTATCCAGTCTCAGGTGTTTCTTTACATCAGTGCGAGAGCAGACTAGTGCACCCTTGAACAATCTCTGGTGCGGTTTCTGAGCTCGAGGCCCCACCTAGGATGACCGCAGCCTCCTAAGTGCCTGCCCCAAAGAGCTCAGCACTGCCAGGGCGTTCGTCCTTTGTTCCCGCCCAAACCTGGAGTGGGCAGTCACTGTGGAAAGCTCGCAATCAGAAACCTTCCACCCCCAGGACTGTCTCAAGGCCCTGGGCCCTGACACCGTGGGAAACGGCCTGCTCTTGCTCCCAGGGTGGCCGGGCTGAGGACCTGACTTCGGAGGGGGCCTTGCTCTACCCTGCACCCCCTCATTTGGACTCCCCAAGTTTGTCCTCCTCCGGATAAGGCCGACTGGCACAGCAGGGGCCCTTGCATGGAGCAGCCCCTCACGCCCAGCACACCAGGCCTCAAAGACACAGAGCTGGGTCCAGTTCCCACTGGATCTTCTTCCCTGCTGGAAAAGCCTGTCACCGAATACAATCCATCCGCGCCGCTCTCCCCGTCTTTCCTACCCTCTTTTCCATGACTCTGGCTGGGGTCTGCTCCTCCTCCAGCCCTGAGCCGACCCCTGAGACGAGAGGGAGCCAAAGGCACAGAAAAGCAGAGGCAGAGCTCCCAGGAGCCCCCACTGAGGCGCGGCTACAGCAGCCAGAGGAGCCCCCAACCCAGGCACGGCCACGGCAGCCGGAGGAACCCCCAGCGAGGAACAGTCACGGCAGCCAGAGGAGCTCCCAGGCCCGAGGGCAGTGCGGGGCAGTCGGAGCTGGGGGGCACCATCCCCTCCCCTGTAACAAGTGGCACCGGAAAGCACCTGACCGCTGCCTGAGATCAGGGACCGCATTGTGGGGCTTCCTCTCCAGCCAGAGTGGGCACCTCTCAATGCCCCAGGCCGCGGCCCTCCTGGCCTGTAGCCCTGCCGCCCCTCAATGCCCAGCGTGGCCTGAGTTGGCCTCCTGTTCCCATCAAGGCAGCAAACTCTGAACGGGCACAGAGCTGGCCAGCCTCAGCCCTGGGTTCTTCCGCAGCACCCACAGGGCCAGCAGTGATGGACTCTCCTGGGCCTGAGCCCCGGGTCCTTCCCCAGCACCCACAGGGCCCGGCAGTGATGGACTCTCCTGGCTCCCTGAGGCTTGCAACACTGAGTGGCAGCCGCGCTCAGACCACCCCACCCTCAGCCCAGGCAGTGCCCTCCCCAGGCCCTGCCAGGCCCCCAGCTCCACCTCCATCACCTGCTGCCTGCAGTCCCTCCCCGCAGGAAGCCCCCTGCCCTCCACAGGACCTTGAGCCTGGGCCACGCTGGGCCCTCTGCACCCAGCCATAGGCACCTCCCTCACCATCCCCCTCTTCCAGCCAGATGACCCGCCTTGACAAACGCCCTCAAGCCCGAGGCCCTGTCAGGATGGCCACGAACGCCCTTCCTCTACCTGACCTGTCGCCCTCAGAGCCTCCCAGGCCTGGCTGCCCCTGCCCTCTGCCGCTGCTACCTATGTGAGTGTCACTCTCCCATGACAGAGACTGGGACCGCTGGTGCATCACCATATGTGGACCAGTCACCAAATTAACCCAAGACAGAGACCACCTGAGCAAAGCCCTCTGTCAGCACAATGCCAGGCCGGTCCCATCCCATGCAGCCCTCAGGGAGGAGAGAGGACTGGGGTCACCCTCCTTTGACATAAGCGCCTAGTTCAACACACCCTGTGTTTATCTTAAAAAACAGCCCTGGTGGCTCACACCTGCAATCCCAGCACTTCCAGAGGAGGAGGCAGGAGGATGGCTTAACCCCCTAGGAGTTGAGGGGTGCAGTAAGCCCCACTCCAGCTGGGCGACAGAGCAAGACCCTGTTTCAAAAATTAAACACACACATACATCCCCCCAACAGTAAATCAGTGAACCTGTTTCCAATGAAACTATAAAAATGCATGTCACAAAAAGAGCACTCACAGGTAGGAGCAGCCTCTGGCAGCCGTGATGTTGAGCATGGGGAAGGCATAGATGATGAAGCAGCTCCTTGTGTGGCAGGAGGGAGTAGAGTGCCATGAAGCCCAGTGCCAGCACCGTCGGCGCGTGCGTCCTTCTGTCTACCAAGCCCAGGGGGATGAAGAGCAGGCTGCAGCCCAGGCCGCGGGGCAGGGCTGAGTAGAAGTACCACAGCAGCGGGGAGGTCTGCGGGCTGGGTTAAGGAGGCCACGCACCTGTCCACGCATGAGCCCGTGGGCTAGGTGGCAGGGTCAAGGTGGAGAAGACGCTTGAAGACAGTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCTNN	pathogenic	328,280
Is the chromosome 22, position 49909242 variant in ALG12 (ALG12 alpha-1,6-mannosyltransferase) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['ALG12-congenital_disorder_of_glycosylation']	CTTCCTCTACCTGACCTGTCGCCCTCAGAGCCTCCCAGGCCTGGCTGCCCCTGCCCTCTGCCGCTGCTACCTATGTGAGTGTCACTCTCCCATGACAGAGACTGGGACCGCTGGTGCATCACCATATGTGGACCAGTCACCAAATTAACCCAAGACAGAGACCACCTGAGCAAAGCCCTCTGTCAGCACAATGCCAGGCCGGTCCCATCCCATGCAGCCCTCAGGGAGGAGAGAGGACTGGGGTCACCCTCCTTTGACATAAGCGCCTAGTTCAACACACCCTGTGTTTATCTTAAAAAACAGCCCTGGTGGCTCACACCTGCAATCCCAGCACTTCCAGAGGAGGAGGCAGGAGGATGGCTTAACCCCCTAGGAGTTGAGGGGTGCAGTAAGCCCCACTCCAGCTGGGCGACAGAGCAAGACCCTGTTTCAAAAATTAAACACACACATACATCCCCCCAACAGTAAATCAGTGAACCTGTTTCCAATGAAACTATAAAAATGCATGTCACAAAAAGAGCACTCACAGGTAGGAGCAGCCTCTGGCAGCCGTGATGTTGAGCATGGGGAAGGCATAGATGATGAAGCGTAGCTCCTTGTGTGGCAGGAGGGAGTAGAGTGCCATGAAGCCCAGTGCCAGCACCGTCGGCGCGTGCGTCCTTCTGTCTACCAAGCCCAGGGGGATGAAGAGCAGGCTGCAGCCCAGGCCGCGGGGCAGGGCTGAGTAGAAGTACCACAGCAGCGGGGAGGTCTGCGGGCTGGGTTAAGGAGGCCACGCACCTGTCCACGCATGAGCCCGTGGGCTAGGTGGCAGGGTCAAGGTGGAGAAGACGCTTGAAGACAGTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCTCTTGACCTTTGTAAAACAAGGCAAAACAAAATCCAGTTAGAAGCATCCCACAGTGACTGACTTACCTAAACAGAGGATCCCTGCCGGGACGGCGTGGCGAAGGGCTCTGACTACAGAAACCTTTCGGTTGCCCAAGGCCAGCAGCAGCAGGAGGCCCAGGAACAGGCACAGCTCCACCCTGAACACGATGATGGCGAAGGCTGACAGCCAGATGAAGCGGGCCCACTCGTGCCGCAGCCAGGCCGCGAGGGCCAGCAGGACTGCAAGACAGTGCGGGAGGGTGCTCGTCAAGACACAGGGCCCACCCGGCCCAGAAAACACCCGGGGAAGTGAAGGGTGATTCCTTTTCCTATTATAAAAGCCACACAAATATCCCAGAAAAGAAACTGCTCAGAGCCGCTCCCCGCACCTATGCTGTTGGCCAGGAAGTGTGTCCCAACCCAGCATGGAAAACAAAGAGCCTGGTTTCAGGTCACAGACCATCCTGAGGAACCCAGTGGGGAATGGCCATTACGGGGGAGGCACTGCCATCAGCTGCACAGCCCGACTCAGGGGAGCCCCTGCCCGGCACCATGGGTGTGCAGGCCCGGCCGGCAGCTACGTACCTACAGGCAGGGCCAGCACATTGGGCAGTGTCCGCGTGCAGTAGAACATCAGGTGGAACTGCATGGCCGTCACCCAGCAGAACATGGTGGCCACCATGGCCCCGAAGTGCCGTCTCACTTCCTTTTGTAACGTCCAGAGTCCAAAAATCACGCCGAGTCCAAGCACTCCTCTAACTAAACAAAGACAGTGACAGCACCTGAGCCTGCAGTGGAGGAGTATCCAGTGGGGCCCCCTACGTGGGTCCTTCTACACAGATCTTTCTATATGGAGTTTTCTATGCTGCTGCAATGCCAGCTGACGGCTACGTCAGGCAAAGCAGCCTTGAGGGCATCGTCTCCATGTTGAAAACAGACGACTGGACCCAGGCCCCCTGCGCTCCTGTCGGGAACTGAGGACCCTTGCGGGGGCTGCTCTCTGAAGCATGAGGGAGGACACACAACTTGGGGGTGCCACGAGCTGAGCCCTACACTAAACCAGAGACCCCACCGGGCTGTGGCATCTCCAGGGGAAATGTTTGCAAAGGCCGGGCTCAGACCTTGCTCTAACCAGCAGCCATGAGGAGGTGGGATGTGGCAGGAACACAGGCTCCCAGGCAGGAAGGGGGTCAGGACCCCTCTCCCCATTTGACAGCAGGAGCCACCTCTGGGCTGGTGGTCTGATGAGGAGGTGGTGAGGGGGCAGGTGTGCCCAGGACAGTACCCAGCCGACCACACATCCTCACCGTGGACCGGCCTGTCAGCCGCTGGCAAGAGACTGAAAACAGGAAGAAAAATGAACTTCTGGGTGGCTCTTGCTACCTTTCCAGAAGGCCAGAGGAACTTCGAAGCCATGTGAGAAGCAACTGGGTCCAGGCAG	CTTCCTCTACCTGACCTGTCGCCCTCAGAGCCTCCCAGGCCTGGCTGCCCCTGCCCTCTGCCGCTGCTACCTATGTGAGTGTCACTCTCCCATGACAGAGACTGGGACCGCTGGTGCATCACCATATGTGGACCAGTCACCAAATTAACCCAAGACAGAGACCACCTGAGCAAAGCCCTCTGTCAGCACAATGCCAGGCCGGTCCCATCCCATGCAGCCCTCAGGGAGGAGAGAGGACTGGGGTCACCCTCCTTTGACATAAGCGCCTAGTTCAACACACCCTGTGTTTATCTTAAAAAACAGCCCTGGTGGCTCACACCTGCAATCCCAGCACTTCCAGAGGAGGAGGCAGGAGGATGGCTTAACCCCCTAGGAGTTGAGGGGTGCAGTAAGCCCCACTCCAGCTGGGCGACAGAGCAAGACCCTGTTTCAAAAATTAAACACACACATACATCCCCCCAACAGTAAATCAGTGAACCTGTTTCCAATGAAACTATAAAAATGCATGTCACAAAAAGAGCACTCACAGGTAGGAGCAGCCTCTGGCAGCCGTGATGTTGAGCATGGGGAAGGCATAGATGATGAAGCGTAGCTCCTTGTGTGGCAGGAGGGAGTAGAGTGCCATGAAGCCCAGTGCCAGCACCGTCGGCGCGTGCGTCCTTCTGTCTACCAAGCCCAGGGGGATGAAGAGCAGGCTGCAGCCCAGGCCGCGGGGCAGGGCTGAGTAGAAGTACCACAGCAGCGGGGAGGTCTGCGGGCTGGGTTAAGGAGGCCACGCACCTGTCCACGCATGAGCCCGTGGGCTAGGTGGCAGGGTCAAGGTGGAGAAGACGCTTGAAGACAGTTGTGCTGAGAGATGCAGCCTGGACCACGGCTCGTGTGCACAGACACCACTCAGGCCTCAGGCCCCTCCTAAAAGACAGAGCCCAGGCCACAGCTCGGGTGCACACATACCACTTGGGCGTCGGGCCCCCTCCAGGCAGGACCAAGGCAGCAAGGGCCACAGGACGTTCGGTCTCTGTACCCTTTTCTTCACTGTTAAAAACAGATGGTCGGCCGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTCGGGAGGCCAAGGTGGGTAGATCACGAGGTAAAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTACAAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGTTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGTACTCCAACCTGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAACCAAAAAACAAAAAACAGACGGTCACGGGTGACACACATGTTGGGATTCGTTATGCTGTTCCATCTATGCGTGTATGTTTGACATAATTCCTAAGAAAGCACTTTTTAAATGCAGATTGTCCGGGCCGGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAAGAGTTCAAGATCAGCCTGACCAACATGGTAAAACCCCACCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCGTGCGCCTATAGTCCCAGCTACTCATGAGGCTGAGGCAGGAGAATTGCTTGAACCAGGGAGGTGGAGGTTGCAGTGAGCCAAGATCATACCACTGTACTCCAGCCTGGGCGACAGAGCGAGACTCAGTCTCAAAAAAAAAAAAAAAAAAGCAGATTGTCCGAGGAGCAGAGGAGAGGCTGGGGTAATCTGGGGCAGGGCTGTTTCCAGCCCTCAGGCTGTTTCCTGGCTGAGAGAGGGCAGCCAGGACCTCACCTCCCATGGCCAGCATTTCCCAGGAGCAAGTGGGAGGGAGGGGCTCCATCCTGACCCTGCAGCCACGCTGCAGAGAAGGGAGAAGCAGCTGCTTCCACTGCCCATGGAGGCCCAGGAGATGTGGCTGCAGGTCCCACCCATCGCCCTCCTGCACGGACACTGAAGGATACCCCCCCAGTTGGAGCTTTTGTTCAGGACAGTGTTGTACCAAAGCACCTTTCCTTCCGGCCAAGTGAGCTGCCGCCAAAAATAAGAGTCCACAGCAACCGTCAGTCCTGACAAAATAAAATAGAGTTTCTTAGTCGCAAACACAGCCATCAGTAAACATCCCGCCACAATGCAGCCCCCATCACTACAGAAACTACAAGCTGCTTTCATATAAAAGAGGTTGGGCAGGGTGGGAAGATTGCTGGAGCCTAGGAGTTCAAGGTTGCAGTGGGCCATGATCATGCCACTGCACTCCATCCTGGGTGACAGAGCAAGACTATCTCTAAAACAAAAAAAGAAAAAAGACACCAACTGTGTCGAGGACACCACTGCCCAGAACCACCGCCTGGCGCAGGGACAAGCCGCCCTCCACTCTTGTGGCCTCCCCCAGCCCAAGGACAAGGGACAGACCAGTGAACAGGGGCTCCTAAGGCGCACGGTGGGTCCCCCTGGAGATCCCCGGGCAGGGGGCTTAGGATTGAAATGTTTTCAACACTGCTAAATTTAGGGTCATTTTATTTCATGGGGATGAAAACCTCCCAAATTTCTCTTGACCTTTGTAAAACAAGGCAAAACAAAATCCAGTTAGAAGCATCCCACAGTGACTGACTTACCTAAACAGAGGATCCCTGCCGGGACGGCGTGGCGAAGGGCTCTGACTACAGAAACCTTTCGGTTGCCCAAGGCCAGCAGCAGCAGGAGGCCCAGGAACAGGCACAGCTCCACCCTGAACACGATGATGGCGAAGGCTGACAGCCAGATGAAGCGGGCCCACTCGTGCCGCAGCCAGGCCGCGAGGGCCAGCAGGACTGCAAGACAGTGCGGGAGGGTGCTCGTCAAGACACAGGGCCCACCCGGCCCAGAAAACACCCGGGGAAGTGAAGGGTGATTCCTTTTCCTATTATAAAAGCCACACAAATATCCCAGAAAAGAAACTGCTCAGAGCCGCTCCCCGCACCTATGCTGTTGGCCAGGAAGTGTGTCCCAACCCAGCATGGAAAACAAAGAGCCTGGTTTCAGGTCACAGACCATCCTGAGGAACCCAGTGGGGAATGGCCATTACGGGGGAGGCACTGCCATCAGCTGCACAGCCCGACTCAGGGGAGCCCCTGCCCGGCACCATGGGTGTGCAGGCCCGGCCGGCAGCTACGTACCTACAGGCAGGGCCAGCACATTGGGCAGTGTCCGCGTGCAGTAGAACATCAGGTGGAACTGCATGGCCGTCACCCAGCAGAACATGGTGGCCACCATGGCCCCGAAGTGCCGTCTCACTTCCTTTTGTAACGTCCAGAGTCCAAAAATCACGCCGAGTCCAAGCACTCCTCTAACTAAACAAAGACAGTGACAGCACCTGAGCCTGCAGTGGAGGAGTATCCAGTGGGGCCCCCTACGTGGGTCCTTCTACACAGATCTTTCTATATGGAGTTTTCTATGCTGCTGCAATGCCAGCTGACGGCTACGTCAGGCAAAGCAGCCTTGAGGGCATCGTCTCCATGTTGAAAACAGACGACTGGACCCAGGCCCCCTGCGCTCCTGTCGGGAACTGAGGACCCTTGCGGGGGCTGCTCTCTGAAGCATGAGGGAGGACACACAACTTGGGGGTGCCACGAGCTGAGCCCTACACTAAACCAGAGACCCCACCGGGCTGTGGCATCTCCAGGGGAAATGTTTGCAAAGGCCGGGCTCAGACCTTGCTCTAACCAGCAGCCATGAGGAGGTGGGATGTGGCAGGAACACAGGCTCCCAGGCAGGAAGGGGGTCAGGACCCCTCTCCCCATTTGACAGCAGGAGCCACCTCTGGGCTGGTGGTCTGATGAGGAGGTGGTGAGGGGGCAGGTGTGCCCAGGACAGTACCCAGCCGACCACACATCCTCACCGTGGACCGGCCTGTCAGCCGCTGGCAAGAGACTGAAAACAGGAAGAAAAATGAACTTCTGGGTGGCTCTTGCTACCTTTCCAGAAGGCCAGAGGAACTTCGAAGCCATGTGAGAAGCAACTGGGTCCAGGCA	pathogenic	328,284
A genetic variant at chromosome 22, position 49913648, affecting gene ALG12 (ALG12 alpha-1,6-mannosyltransferase)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['ALG12-congenital_disorder_of_glycosylation']	AATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCAGGATGACATGCTCTTCATCCAGAGAGGAAGGATTTTGGCCTGTGGCAGGGGCTGGGGGGGGCACTAGCAATTCCAGGTCACCTTAGTGGGATCAGGAAGGACACAGGGTGGGCTCCCGTTCACCAGCTGAAGCTGCAGCCCTCCAAGGTTCTGTCCAGCTGGAGTCCACCCAGCTCTGCCCAACCTCCCAACCTCTTGCTGCCAACCCTGGAATAAGCAGAAGCTTCCAAGGGAATGTGGACTCAGCCCCGGAATTGCCTGTGGACTTCCTTTCCCTGGCTCGTGGCCCCCCAACTCCTCCCCATTTGGGGCTTCCTGATGCCTCTACAGGACATGCACGGCTTGTCCAGCTGTCCCCGTGCCATGGTGGGTTTCCGTTCCCAATCTGCCCCTTCAAGAAGCAGAACTGCTCCTTCCCCAGGAACGTGCTACTTCTTAAAGCTCTCCACACAAGCTGGACTGACTCGCTGGAAGCATGTCTGGGTATTAAAAGCAATAAAAGCGTACTGAAATAAAAAAGTGGTGATTGCTGACTTCAAAAACTCAGGTTGTGTGACTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGTGGGACAATCACTTGAGCCCAGGAGTTCAAAGCTGTAGTGAGCTATGATTGCACCACTGCACTTCAGCCTAGGTGACACAGCAAGGCCCTGTCTCAAAAAAGAAAAAAAAATCGGTTTTTAGAACAATATGTACAAAACGTTCTAATTTTTTTTTTTTAAAGTCCTCATGTGGGCACAGAGAAAGACCCAGGATTTGCACACAGGCCCTGCAGTGGTGGCCTCTGGGAATGTGAGGTTTCTGTTTGTAACATTCCCCAAGGCAAATGGTGCTGCTTCTGCAGGAATAAAGGCTGTTGACCCCATGGGGGCTTGCCAGGTGAGGCGGGAGCAGCAGGCTCAGGTGGCGAGAGCTGCCTCACAGGCAGTCGGCATTTCTCTTGTACCTGCCGTCACCCCTAATTTCACAGTCAAGAGTGTGGAGGCACAGAGGGGCTGACTCAGACGTCTTAGGCCTGACCTGAGCACCTGCTCTGAGCCGCCATGCCACGGTGATCGAGGGCAGGCAAGACTAACAGACAGCGTTCCTGGGCAGGAGGGACCGCGGCCTCGCTGAGGTCACCCGATGACACCACAGTCCCTCACTCCCTCCTCCTTTGTTGAAGACCCCCTTACCTATTAGCTGAGAGTAAAACTTGGACATTTCTAACAGCGAAAGCACGTAAACCGCGGGGCTGGAGAACACTGCGATCACCACTGGCCCGAGGAACGTCCTGGGGACGACTCCGGGGAACTCAAGATGGTCGTACTGCGAGGAGAAGGGCAGGTCAGTGCACCGGGGCCCTGCCAGCTGGTAACATGAGGTTTTCCCCAAAGACAGCAGGGGCCCCTCACCTGCTCCAGGTCTTGCCAGTGGTAGAGCAGGTCATGTGTGGCCTGCAGGTTGAAGCTCTCCTCCACTTTGGTGTAGGGACAGATGACCAGGTGGACAGTGGCTACGGCCACCAGCAGCCCCAGCAGCAGGGGCCGCCTGCCTGATGACCCCTTTCCAGCCATTCCAGGCTTTCAGCTTCACGTACCTTCACAGGCCAACAGTGCGAGACACCAGCCGTTAGCACTGCCACTCCACGCATGCTGGAAAAGTGGAAACAGATTCCTGAGGTTCGAAAGTCACGCTTGCGCTCACGTTTGGGAGATCCGGGTAAAGGGTTAGCAGAATTCTCTGAACTACTGTCTTAGTCGCACTACTACAAATCTGAAAACGCATCAAGATGGAAAGTTTGGAGAAAAAATCACACTTGAGAATCTTTCATACTGTAACCAGTGATCTGACACTTCCAGCTCTGTGAATGTTTTTCTAGGCAGAAGGATCTCAGTCGCAGAACCCTGAGTCTGACCAGGCCTGGGCCACGAGGGCAATGGAGGGTGGTAAATGGCCCCTGCCCCCCAGTCTAAATCTGGCAGGAGAGTCAGCAAAACCCAGGCTTGGCCCCGAGGGAACCGGCTGAAGAAGACGGAATGGGAGGCTGAGGGGTGCCAGTTAGCTGGGTGGGAGGCACCAAGCTGGAGAGTGGTGGACAGGGGCCCCGGGAGGGCAAGAAACTGAACGTAGTACAGCTGCTGGGACACAGGGCTCGAGTGGCCAGCAAAGCCCCCGCTCCCAGGAATGGTGGGATGGGGCTGTGGACGCCTGCGCCGAACCCCACCCTGGGGGCTGGGAGAAGCCATGGCCGGCTTTCCCAAAGGTGGCACCACACTGGCCATGAGCCTGCATGTGAGCCTGGGAAGACTGGCAATGGGTCCCCCAAACACTAACAGGACAACCTCAGGGGCCCGTGGCACGGAGCTTCCTGAGAGGCCAGCAACATGTCCAGCTGCTACACGTGAGAGACCAAGGGAGGGGAGGGGGCAAACTCTTCACGTTTCTGGCTTCTTTTAAAACAGATTTGATTTTATTCAATCCAAACCAGAAGGGCCAGAAGCAAAGGGAGAGAGAACCCCAGGGCTTACCATTTATTAAAACTACTTTAAAAATTTTTTTTAAGAGACAGCGTCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGAGTGATCATGGCTCACTGCAGCCTCAAACTCCTGGGATCCTTTTGCCTGAGCCTCCTGAGTAGCCGCAGCTACAGGTGTGGGTCACCACACTCAGCTAAGTTTTCTTATTTTTTGTAAAGACAGGGTCTTGCTTTGTAGCCCAGGCTGGTATGGAATTCCTGGCTTCAAGCCATCTTCCTACCTTGGCCTCCTGAAGTATTGGGATTACAGGCGTGGGCCACCATGCCCAGCCAAAACTATCTTTTGATCAAACGGAGAGTTAAGAAGTATACAAAGATGGCAACCAAAGGAAAATCTGTAGATTAGAAGGAAGGAGAACCCTATTTGATATGGTGGGCAGGGGGTGGAGAGAAAGAAAAAAGAAAGCTTTAATAATTTTACGACTGAAATGGTATGCAGTTCTCTCCTTTGCCAAATATAAAAACCTGGGGCCGGGCGCGGTCGCTCATTCCCGTAATCCCAGCTCTTTGGGAGGCTGAGGGCCAGGTGCGGTGGCTCATTCCCATAATCCCAGCTCTTCGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGCAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTAGTGCACGCCTATAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCCGCAGTGAGCCGAGATCACACCACTGAAATCCAGTCTGGGCCACAGAGCGTGACTCCGTCTCAGAAATAAATAAATAGATAATAAAAAAATTTAAAAAAATAAACTTGGTATCAAACAAAGAGAAAGGTCGAAGGACTAGGTTAGGAATCACTAACTGAGGGAGGGCCCACTCAGCTGTCTCCCACTTGCTAAGACACAAG	AATTTTTGTATTTTTAGTAGAGACAAGGTTTCCCATGTTGGCCAGGATGGTCTCAAACTCCTGACCTCAGGTGATCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCAGGATGACATGCTCTTCATCCAGAGAGGAAGGATTTTGGCCTGTGGCAGGGGCTGGGGGGGGCACTAGCAATTCCAGGTCACCTTAGTGGGATCAGGAAGGACACAGGGTGGGCTCCCGTTCACCAGCTGAAGCTGCAGCCCTCCAAGGTTCTGTCCAGCTGGAGTCCACCCAGCTCTGCCCAACCTCCCAACCTCTTGCTGCCAACCCTGGAATAAGCAGAAGCTTCCAAGGGAATGTGGACTCAGCCCCGGAATTGCCTGTGGACTTCCTTTCCCTGGCTCGTGGCCCCCCAACTCCTCCCCATTTGGGGCTTCCTGATGCCTCTACAGGACATGCACGGCTTGTCCAGCTGTCCCCGTGCCATGGTGGGTTTCCGTTCCCAATCTGCCCCTTCAAGAAGCAGAACTGCTCCTTCCCCAGGAACGTGCTACTTCTTAAAGCTCTCCACACAAGCTGGACTGACTCGCTGGAAGCATGTCTGGGTATTAAAAGCAATAAAAGCGTACTGAAATAAAAAAGTGGTGATTGCTGACTTCAAAAACTCAGGTTGTGTGACTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGTGGGACAATCACTTGAGCCCAGGAGTTCAAAGCTGTAGTGAGCTATGATTGCACCACTGCACTTCAGCCTAGGTGACACAGCAAGGCCCTGTCTCAAAAAAGAAAAAAAAATCGGTTTTTAGAACAATATGTACAAAACGTTCTAATTTTTTTTTTTTAAAGTCCTCATGTGGGCACAGAGAAAGACCCAGGATTTGCACACAGGCCCTGCAGTGGTGGCCTCTGGGAATGTGAGGTTTCTGTTTGTAACATTCCCCAAGGCAAATGGTGCTGCTTCTGCAGGAATAAAGGCTGTTGACCCCATGGGGGCTTGCCAGGTGAGGCGGGAGCAGCAGGCTCAGGTGGCGAGAGCTGCCTCACAGGCAGTCGGCATTTCTCTTGTACCTGCCGTCACCCCTAATTTCACAGTCAAGAGTGTGGAGGCACAGAGGGGCTGACTCAGACGTCTTAGGCCTGACCTGAGCACCTGCTCTGAGCCGCCATGCCACGGTGATCGAGGGCAGGCAAGACTAACAGACAGCGTTCCTGGGCAGGAGGGACCGCGGCCTCGCTGAGGTCACCCGATGACACCACAGTCCCTCACTCCCTCCTCCTTTGTTGAAGACCCCCTTACCTATTAGCTGAGAGTAAAACTTGGACATTTCTAACAGCGAAAGCACGTAAACCGCGGGGCTGGAGAACACTGCGATCACCACTGGCCCGAGGAACGTCCTGGGGACGACTCCGGGGAACTCAAGATGGTCGTACTGCGAGGAGAAGGGCAGGTCAGTGCACCGGGGCCCTGCCAGCTGGTAACATGAGGTTTTCCCCAAAGACAGCAGGGGCCCCTCACCTGCTCCAGGTCTTGCCAGTGGTAGAGCAGGTCATGTGTGGCCTGAGGTTGAAGCTCTCCTCCACTTTGGTGTAGGGACAGATGACCAGGTGGACAGTGGCTACGGCCACCAGCAGCCCCAGCAGCAGGGGCCGCCTGCCTGATGACCCCTTTCCAGCCATTCCAGGCTTTCAGCTTCACGTACCTTCACAGGCCAACAGTGCGAGACACCAGCCGTTAGCACTGCCACTCCACGCATGCTGGAAAAGTGGAAACAGATTCCTGAGGTTCGAAAGTCACGCTTGCGCTCACGTTTGGGAGATCCGGGTAAAGGGTTAGCAGAATTCTCTGAACTACTGTCTTAGTCGCACTACTACAAATCTGAAAACGCATCAAGATGGAAAGTTTGGAGAAAAAATCACACTTGAGAATCTTTCATACTGTAACCAGTGATCTGACACTTCCAGCTCTGTGAATGTTTTTCTAGGCAGAAGGATCTCAGTCGCAGAACCCTGAGTCTGACCAGGCCTGGGCCACGAGGGCAATGGAGGGTGGTAAATGGCCCCTGCCCCCCAGTCTAAATCTGGCAGGAGAGTCAGCAAAACCCAGGCTTGGCCCCGAGGGAACCGGCTGAAGAAGACGGAATGGGAGGCTGAGGGGTGCCAGTTAGCTGGGTGGGAGGCACCAAGCTGGAGAGTGGTGGACAGGGGCCCCGGGAGGGCAAGAAACTGAACGTAGTACAGCTGCTGGGACACAGGGCTCGAGTGGCCAGCAAAGCCCCCGCTCCCAGGAATGGTGGGATGGGGCTGTGGACGCCTGCGCCGAACCCCACCCTGGGGGCTGGGAGAAGCCATGGCCGGCTTTCCCAAAGGTGGCACCACACTGGCCATGAGCCTGCATGTGAGCCTGGGAAGACTGGCAATGGGTCCCCCAAACACTAACAGGACAACCTCAGGGGCCCGTGGCACGGAGCTTCCTGAGAGGCCAGCAACATGTCCAGCTGCTACACGTGAGAGACCAAGGGAGGGGAGGGGGCAAACTCTTCACGTTTCTGGCTTCTTTTAAAACAGATTTGATTTTATTCAATCCAAACCAGAAGGGCCAGAAGCAAAGGGAGAGAGAACCCCAGGGCTTACCATTTATTAAAACTACTTTAAAAATTTTTTTTAAGAGACAGCGTCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGAGTGATCATGGCTCACTGCAGCCTCAAACTCCTGGGATCCTTTTGCCTGAGCCTCCTGAGTAGCCGCAGCTACAGGTGTGGGTCACCACACTCAGCTAAGTTTTCTTATTTTTTGTAAAGACAGGGTCTTGCTTTGTAGCCCAGGCTGGTATGGAATTCCTGGCTTCAAGCCATCTTCCTACCTTGGCCTCCTGAAGTATTGGGATTACAGGCGTGGGCCACCATGCCCAGCCAAAACTATCTTTTGATCAAACGGAGAGTTAAGAAGTATACAAAGATGGCAACCAAAGGAAAATCTGTAGATTAGAAGGAAGGAGAACCCTATTTGATATGGTGGGCAGGGGGTGGAGAGAAAGAAAAAAGAAAGCTTTAATAATTTTACGACTGAAATGGTATGCAGTTCTCTCCTTTGCCAAATATAAAAACCTGGGGCCGGGCGCGGTCGCTCATTCCCGTAATCCCAGCTCTTTGGGAGGCTGAGGGCCAGGTGCGGTGGCTCATTCCCATAATCCCAGCTCTTCGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGCAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTAGTGCACGCCTATAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCCGCAGTGAGCCGAGATCACACCACTGAAATCCAGTCTGGGCCACAGAGCGTGACTCCGTCTCAGAAATAAATAAATAGATAATAAAAAAATTTAAAAAAATAAACTTGGTATCAAACAAAGAGAAAGGTCGAAGGACTAGGTTAGGAATCACTAACTGAGGGAGGGCCCACTCAGCTGTCTCCCACTTGCTAAGACACAAGN	pathogenic	328,304
Does the variant on chromosome 22 at location 49913735 affecting gene ALG12 (ALG12 alpha-1,6-mannosyltransferase) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['ALG12-congenital_disorder_of_glycosylation']	GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCAGGATGACATGCTCTTCATCCAGAGAGGAAGGATTTTGGCCTGTGGCAGGGGCTGGGGGGGGCACTAGCAATTCCAGGTCACCTTAGTGGGATCAGGAAGGACACAGGGTGGGCTCCCGTTCACCAGCTGAAGCTGCAGCCCTCCAAGGTTCTGTCCAGCTGGAGTCCACCCAGCTCTGCCCAACCTCCCAACCTCTTGCTGCCAACCCTGGAATAAGCAGAAGCTTCCAAGGGAATGTGGACTCAGCCCCGGAATTGCCTGTGGACTTCCTTTCCCTGGCTCGTGGCCCCCCAACTCCTCCCCATTTGGGGCTTCCTGATGCCTCTACAGGACATGCACGGCTTGTCCAGCTGTCCCCGTGCCATGGTGGGTTTCCGTTCCCAATCTGCCCCTTCAAGAAGCAGAACTGCTCCTTCCCCAGGAACGTGCTACTTCTTAAAGCTCTCCACACAAGCTGGACTGACTCGCTGGAAGCATGTCTGGGTATTAAAAGCAATAAAAGCGTACTGAAATAAAAAAGTGGTGATTGCTGACTTCAAAAACTCAGGTTGTGTGACTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGTGGGACAATCACTTGAGCCCAGGAGTTCAAAGCTGTAGTGAGCTATGATTGCACCACTGCACTTCAGCCTAGGTGACACAGCAAGGCCCTGTCTCAAAAAAGAAAAAAAAATCGGTTTTTAGAACAATATGTACAAAACGTTCTAATTTTTTTTTTTTAAAGTCCTCATGTGGGCACAGAGAAAGACCCAGGATTTGCACACAGGCCCTGCAGTGGTGGCCTCTGGGAATGTGAGGTTTCTGTTTGTAACATTCCCCAAGGCAAATGGTGCTGCTTCTGCAGGAATAAAGGCTGTTGACCCCATGGGGGCTTGCCAGGTGAGGCGGGAGCAGCAGGCTCAGGTGGCGAGAGCTGCCTCACAGGCAGTCGGCATTTCTCTTGTACCTGCCGTCACCCCTAATTTCACAGTCAAGAGTGTGGAGGCACAGAGGGGCTGACTCAGACGTCTTAGGCCTGACCTGAGCACCTGCTCTGAGCCGCCATGCCACGGTGATCGAGGGCAGGCAAGACTAACAGACAGCGTTCCTGGGCAGGAGGGACCGCGGCCTCGCTGAGGTCACCCGATGACACCACAGTCCCTCACTCCCTCCTCCTTTGTTGAAGACCCCCTTACCTATTAGCTGAGAGTAAAACTTGGACATTTCTAACAGCGAAAGCACGTAAACCGCGGGGCTGGAGAACACTGCGATCACCACTGGCCCGAGGAACGTCCTGGGGACGACTCCGGGGAACTCAAGATGGTCGTACTGCGAGGAGAAGGGCAGGTCAGTGCACCGGGGCCCTGCCAGCTGGTAACATGAGGTTTTCCCCAAAGACAGCAGGGGCCCCTCACCTGCTCCAGGTCTTGCCAGTGGTAGAGCAGGTCATGTGTGGCCTGCAGGTTGAAGCTCTCCTCCACTTTGGTGTAGGGACAGATGACCAGGTGGACAGTGGCTACGGCCACCAGCAGCCCCAGCAGCAGGGGCCGCCTGCCTGATGACCCCTTTCCAGCCATTCCAGGCTTTCAGCTTCACGTACCTTCACAGGCCAACAGTGCGAGACACCAGCCGTTAGCACTGCCACTCCACGCATGCTGGAAAAGTGGAAACAGATTCCTGAGGTTCGAAAGTCACGCTTGCGCTCACGTTTGGGAGATCCGGGTAAAGGGTTAGCAGAATTCTCTGAACTACTGTCTTAGTCGCACTACTACAAATCTGAAAACGCATCAAGATGGAAAGTTTGGAGAAAAAATCACACTTGAGAATCTTTCATACTGTAACCAGTGATCTGACACTTCCAGCTCTGTGAATGTTTTTCTAGGCAGAAGGATCTCAGTCGCAGAACCCTGAGTCTGACCAGGCCTGGGCCACGAGGGCAATGGAGGGTGGTAAATGGCCCCTGCCCCCCAGTCTAAATCTGGCAGGAGAGTCAGCAAAACCCAGGCTTGGCCCCGAGGGAACCGGCTGAAGAAGACGGAATGGGAGGCTGAGGGGTGCCAGTTAGCTGGGTGGGAGGCACCAAGCTGGAGAGTGGTGGACAGGGGCCCCGGGAGGGCAAGAAACTGAACGTAGTACAGCTGCTGGGACACAGGGCTCGAGTGGCCAGCAAAGCCCCCGCTCCCAGGAATGGTGGGATGGGGCTGTGGACGCCTGCGCCGAACCCCACCCTGGGGGCTGGGAGAAGCCATGGCCGGCTTTCCCAAAGGTGGCACCACACTGGCCATGAGCCTGCATGTGAGCCTGGGAAGACTGGCAATGGGTCCCCCAAACACTAACAGGACAACCTCAGGGGCCCGTGGCACGGAGCTTCCTGAGAGGCCAGCAACATGTCCAGCTGCTACACGTGAGAGACCAAGGGAGGGGAGGGGGCAAACTCTTCACGTTTCTGGCTTCTTTTAAAACAGATTTGATTTTATTCAATCCAAACCAGAAGGGCCAGAAGCAAAGGGAGAGAGAACCCCAGGGCTTACCATTTATTAAAACTACTTTAAAAATTTTTTTTAAGAGACAGCGTCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGAGTGATCATGGCTCACTGCAGCCTCAAACTCCTGGGATCCTTTTGCCTGAGCCTCCTGAGTAGCCGCAGCTACAGGTGTGGGTCACCACACTCAGCTAAGTTTTCTTATTTTTTGTAAAGACAGGGTCTTGCTTTGTAGCCCAGGCTGGTATGGAATTCCTGGCTTCAAGCCATCTTCCTACCTTGGCCTCCTGAAGTATTGGGATTACAGGCGTGGGCCACCATGCCCAGCCAAAACTATCTTTTGATCAAACGGAGAGTTAAGAAGTATACAAAGATGGCAACCAAAGGAAAATCTGTAGATTAGAAGGAAGGAGAACCCTATTTGATATGGTGGGCAGGGGGTGGAGAGAAAGAAAAAAGAAAGCTTTAATAATTTTACGACTGAAATGGTATGCAGTTCTCTCCTTTGCCAAATATAAAAACCTGGGGCCGGGCGCGGTCGCTCATTCCCGTAATCCCAGCTCTTTGGGAGGCTGAGGGCCAGGTGCGGTGGCTCATTCCCATAATCCCAGCTCTTCGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGCAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTAGTGCACGCCTATAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCCGCAGTGAGCCGAGATCACACCACTGAAATCCAGTCTGGGCCACAGAGCGTGACTCCGTCTCAGAAATAAATAAATAGATAATAAAAAAATTTAAAAAAATAAACTTGGTATCAAACAAAGAGAAAGGTCGAAGGACTAGGTTAGGAATCACTAACTGAGGGAGGGCCCACTCAGCTGTCTCCCACTTGCTAAGACACAAGCTTTTTGACGGTGGGGGGTTTTTGATGCTGGATGATTTTTCCCACCAGCGCAGCCTCAGCACCAAGGACAGAGGCCAGCCGCTGTGG	GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGTCTGAATGTCTTAATAGGACATTTTTCACTGATACTCACAAGTGGGTCTGGCTCCAGCTGCTGTATTTTTGGTGCTGGAATTTCCCCCGGGCTTTTAAACAATTCACAGACCCCAGCAAAGCCCCGCTTCCCCTTTTCCCCATCAGGTCCATCCCCTGCGTCTCTTCTCTTGGTTTTCCATCTTCCCAAATGCCCAACAATCTCAACCCCGTGCCCAACAAGGGTAGCCTCGGCCTCACGATCAGCCTCGGCTGCGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCACGGGATCACCCTCGGCCCCGGGATCAGCCTCGGCCGCGGGATCAGCCTGGCCCCGGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCGGGATCAGCCTGGCCCCAGGATCACCCTCGGCCCCGGGATCACCCTCGGCCCCAGGATGACATGCTCTTCATCCAGAGAGGAAGGATTTTGGCCTGTGGCAGGGGCTGGGGGGGGCACTAGCAATTCCAGGTCACCTTAGTGGGATCAGGAAGGACACAGGGTGGGCTCCCGTTCACCAGCTGAAGCTGCAGCCCTCCAAGGTTCTGTCCAGCTGGAGTCCACCCAGCTCTGCCCAACCTCCCAACCTCTTGCTGCCAACCCTGGAATAAGCAGAAGCTTCCAAGGGAATGTGGACTCAGCCCCGGAATTGCCTGTGGACTTCCTTTCCCTGGCTCGTGGCCCCCCAACTCCTCCCCATTTGGGGCTTCCTGATGCCTCTACAGGACATGCACGGCTTGTCCAGCTGTCCCCGTGCCATGGTGGGTTTCCGTTCCCAATCTGCCCCTTCAAGAAGCAGAACTGCTCCTTCCCCAGGAACGTGCTACTTCTTAAAGCTCTCCACACAAGCTGGACTGACTCGCTGGAAGCATGTCTGGGTATTAAAAGCAATAAAAGCGTACTGAAATAAAAAAGTGGTGATTGCTGACTTCAAAAACTCAGGTTGTGTGACTGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTGTGGGAGGCTGAGGTGGGACAATCACTTGAGCCCAGGAGTTCAAAGCTGTAGTGAGCTATGATTGCACCACTGCACTTCAGCCTAGGTGACACAGCAAGGCCCTGTCTCAAAAAAGAAAAAAAAATCGGTTTTTAGAACAATATGTACAAAACGTTCTAATTTTTTTTTTTTAAAGTCCTCATGTGGGCACAGAGAAAGACCCAGGATTTGCACACAGGCCCTGCAGTGGTGGCCTCTGGGAATGTGAGGTTTCTGTTTGTAACATTCCCCAAGGCAAATGGTGCTGCTTCTGCAGGAATAAAGGCTGTTGACCCCATGGGGGCTTGCCAGGTGAGGCGGGAGCAGCAGGCTCAGGTGGCGAGAGCTGCCTCACAGGCAGTCGGCATTTCTCTTGTACCTGCCGTCACCCCTAATTTCACAGTCAAGAGTGTGGAGGCACAGAGGGGCTGACTCAGACGTCTTAGGCCTGACCTGAGCACCTGCTCTGAGCCGCCATGCCACGGTGATCGAGGGCAGGCAAGACTAACAGACAGCGTTCCTGGGCAGGAGGGACCGCGGCCTCGCTGAGGTCACCCGATGACACCACAGTCCCTCACTCCCTCCTCCTTTGTTGAAGACCCCCTTACCTATTAGCTGAGAGTAAAACTTGGACATTTCTAACAGCGAAAGCACGTAAACCGCGGGGCTGGAGAACACTGCGATCACCACTGGCCCGAGGAACGTCCTGGGGACGACTCCGGGGAACTCAAGATGGTCGTACTGCGAGGAGAAGGGCAGGTCAGTGCACCGGGGCCCTGCCAGCTGGTAACATGAGGTTTTCCCCAAAGACAGCAGGGGCCCCTCACCTGCTCCAGGTCTTGCCAGTGGTAGAGCAGGTCATGTGTGGCCTGCAGGTTGAAGCTCTCCTCCACTTTGGTGTAGGGACAGATGACCAGGTGGACAGTGGCTACGGCCACCAGCAGCCCCAGCAGCAGGGGCGCCTGCCTGATGACCCCTTTCCAGCCATTCCAGGCTTTCAGCTTCACGTACCTTCACAGGCCAACAGTGCGAGACACCAGCCGTTAGCACTGCCACTCCACGCATGCTGGAAAAGTGGAAACAGATTCCTGAGGTTCGAAAGTCACGCTTGCGCTCACGTTTGGGAGATCCGGGTAAAGGGTTAGCAGAATTCTCTGAACTACTGTCTTAGTCGCACTACTACAAATCTGAAAACGCATCAAGATGGAAAGTTTGGAGAAAAAATCACACTTGAGAATCTTTCATACTGTAACCAGTGATCTGACACTTCCAGCTCTGTGAATGTTTTTCTAGGCAGAAGGATCTCAGTCGCAGAACCCTGAGTCTGACCAGGCCTGGGCCACGAGGGCAATGGAGGGTGGTAAATGGCCCCTGCCCCCCAGTCTAAATCTGGCAGGAGAGTCAGCAAAACCCAGGCTTGGCCCCGAGGGAACCGGCTGAAGAAGACGGAATGGGAGGCTGAGGGGTGCCAGTTAGCTGGGTGGGAGGCACCAAGCTGGAGAGTGGTGGACAGGGGCCCCGGGAGGGCAAGAAACTGAACGTAGTACAGCTGCTGGGACACAGGGCTCGAGTGGCCAGCAAAGCCCCCGCTCCCAGGAATGGTGGGATGGGGCTGTGGACGCCTGCGCCGAACCCCACCCTGGGGGCTGGGAGAAGCCATGGCCGGCTTTCCCAAAGGTGGCACCACACTGGCCATGAGCCTGCATGTGAGCCTGGGAAGACTGGCAATGGGTCCCCCAAACACTAACAGGACAACCTCAGGGGCCCGTGGCACGGAGCTTCCTGAGAGGCCAGCAACATGTCCAGCTGCTACACGTGAGAGACCAAGGGAGGGGAGGGGGCAAACTCTTCACGTTTCTGGCTTCTTTTAAAACAGATTTGATTTTATTCAATCCAAACCAGAAGGGCCAGAAGCAAAGGGAGAGAGAACCCCAGGGCTTACCATTTATTAAAACTACTTTAAAAATTTTTTTTAAGAGACAGCGTCTTACTCTGTCACCCAAGCTGGAGTGCAGTGGAGTGATCATGGCTCACTGCAGCCTCAAACTCCTGGGATCCTTTTGCCTGAGCCTCCTGAGTAGCCGCAGCTACAGGTGTGGGTCACCACACTCAGCTAAGTTTTCTTATTTTTTGTAAAGACAGGGTCTTGCTTTGTAGCCCAGGCTGGTATGGAATTCCTGGCTTCAAGCCATCTTCCTACCTTGGCCTCCTGAAGTATTGGGATTACAGGCGTGGGCCACCATGCCCAGCCAAAACTATCTTTTGATCAAACGGAGAGTTAAGAAGTATACAAAGATGGCAACCAAAGGAAAATCTGTAGATTAGAAGGAAGGAGAACCCTATTTGATATGGTGGGCAGGGGGTGGAGAGAAAGAAAAAAGAAAGCTTTAATAATTTTACGACTGAAATGGTATGCAGTTCTCTCCTTTGCCAAATATAAAAACCTGGGGCCGGGCGCGGTCGCTCATTCCCGTAATCCCAGCTCTTTGGGAGGCTGAGGGCCAGGTGCGGTGGCTCATTCCCATAATCCCAGCTCTTCGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGCAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTAGTGCACGCCTATAATCCCAGCTACTCGGGAGGCTAAGGCAGGAGAATCGCTTGAGCCCAGGAGGCAGAGGCCGCAGTGAGCCGAGATCACACCACTGAAATCCAGTCTGGGCCACAGAGCGTGACTCCGTCTCAGAAATAAATAAATAGATAATAAAAAAATTTAAAAAAATAAACTTGGTATCAAACAAAGAGAAAGGTCGAAGGACTAGGTTAGGAATCACTAACTGAGGGAGGGCCCACTCAGCTGTCTCCCACTTGCTAAGACACAAGCTTTTTGACGGTGGGGGGTTTTTGATGCTGGATGATTTTTCCCACCAGCGCAGCCTCAGCACCAAGGACAGAGGCCAGCCGCTGTGGN	pathogenic	328,308
Evaluate if the mutation on chromosome 22 at position 50064040 in MLC1 (modulator of VRAC current 1) is benign or pathogenic. Disease name(s) if pathogenic?	benign	GAAAACACTTAAGGCAGAGGTAACCAGATGCCTCCAGGCAAAAGGGAGGACAGCGCCAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCTGGGACCAGCAGTTCTGGGATCTGGGGAGAACACCTCATGCGTCTGACTCTGGGCCTTGCTGGTCACAACAGAAACCCAGGCGGGTCTCATTTCAGGCCCAGGGACTGCCGTCCTAGCAGGGAGACTGACCACAGCCAGGAAAAATGGCAGCAAAGCAACTGAGGAGGCAGGTTAAGGGAACAGCAGTAGGGAGGGTGGAGGGTGGGGGCGACGGGGTCAGCTGAGAAACGAGCCAAGGGCAAGAGAGCGTCCTCCGGGACTTAGCGGGCACTGGAGGCTCTGCACCAAGGTTCTGAGGCCGGTGGTGTGCTGAACACAGGAGGGCAGGGTGTGCAGGGCAAGAGCAGCGGCCGGTCCGCCCAGGATGGCCTAGAGGTGGGGCAGGACTCAGAGCCCCGCTGAGTGGCTGCCCAGGTGTTTGGGCATCAAGGTGACAGTCCTAGTGGTCACTGCACCTGAGGGTCAGCGGGCAGGTTTGCCCAGGGGAGCACCACCAGGACCCGTAGCTCGGTGGGGGGAAGACGCTGAGCCTCTGCCTTTCAGATGTGGGGGCAGCAAGACAGTAGGCAGGGCCCGGGGGAACATTGTTCAGGCAGTGACAGCCAGAAGTTGTTGACACCCCAGCTTTACGGAGCCCCATGTGCCAGGCTGGGTGGGCATTGCCTTCCCTGCAGAACCGCGTCCCCACCAGAGACCAGGGAAGGAAACTTCAGGACCTGTGGGAGTCCTCACAAAGCCCTCTTCTGTGTCTCTAAGAGCAAATCTGAAAGCATTAAGTCCAGAATATTTCCCAGGGATGGGTCTGGGTTTACCCAGGCTTTGTGTTTGTATTTTTAAAAGACATTTTACGGCTGGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCGAGACCAGTCTAACCAACATAGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCCGTGATCGCGCCACTGCACTCCAGTCTGGGTGACAGACTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAGACATTTTACTTCTTCGGGGTTTTTCTGGGGTGTTTTTAAAAATACAAAGTGGCACAATGAATCTTCGAGGGCCACGTCGTGTGGCCCTCGGAGGCCCTCACCAGGACAGGAGCCCCCACCGCAGGCCTCTCACCTCCCCAGCGGGTGCTCCTGTGGGCCACTCACCTCCCCAGCACCCCTGAAACCCACAGGCCTCTCACCTCCCTGGCTGAGCACCCCTGTGGGCCACTCACCTCCCCAGTGCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCCCCCCATGGGCCACTCACCTCCCCAGCACCTGCACCGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCTACTCACCTCCCCAGCACCCCCTCCCCCTGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCTTCCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCACCCCCGTGGGCCACTCACCTCCCCAGTGCCCCCTCCCCCTGCAGGCCACTCACCTCCCCAGCCAGGCGCTCCTGCGGGCCGTTCTGGGTGTCCCAGGATGCACCCTGCAGCCTTGCACTGACCTTGAAGCGCACGCACTGGATGGCGGTGCCCGTGTTGAGGCCGGCCTGCAGCAGGAGCACTAGCAGCAGCAGCAGCAGCAGCACATCGTAGGATGGCTGCAGGCGGAAGGAGGTGTGAGCAGAGTGGCCCAGCCGCCCTCCAGCCCAGGAGACCAAAGCTCCCTCGTGCCCACGGCCTTCACAAAGAGCAGGTGCCAGGGCTCGAGTCGGAGCCCCAGTAACCCAAACGCATTGCTATTTCAACAACCTGATGATAATCATTCTAGCTCAATTAATGAGGTCAATTCTGCTTTAAATTCCATCAGCTTGTGTTCAACATACAGGAATAAAAGTGACCGAGCCACTGCCAGGCCCCGTGGACAGTGCTGGCTGCTAGTGGTCAAGTCGCTCCACCCCTCCTGCTCCAACACGCGCAAGGCTCAGTCCCAGAGCCAGAGAGAATGTCCGCGGGAGGCAGAAGCGCTGACCGTTCCGTGTCAGCAGGATCCTGAGCGGAGGAGACAGGGGGCAGCCGTCCTGGGGGGATGGGGTGCACAGACCCCCAACAGCTTCACCCCTGAGCACCAGCTGCTAGGAAGGAAGGGGCAGGAGGCAGCGCGGTGAGCTCGGCAGGGAAGAGGATGGAGGGAGCGGCCGAGGATGCAGGGGGCCAGAGAGTGACCACGGAGCACCCAAAACCCTCTGTGCCCATGGATAGCTTTCCCGTGTTGGCTCAAGAAAAACAAAGCAACTAAATGTTAACACACAAAAGAGCCAAACATCTATCCAATGTCACTGCTACAAAAAGTAAGAGAAGAAACAGAACGAACAGCTCTTCTCAAGTTAACATAAAACTTTTTTTTGCGACAGTCTCCCTCTGTCACCCAGGCTGGCGTGCAGTGGCGCGATCTCGGCTCGCTGCAACCTCTACATCCCAGGTTCAAGCGATTCTCCTGCCTCAACCTCGCCAGTAGCTGGGATTACAGGTACCCGCCACCACGCCCAGCTAATTTTCGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCCTAACCTCAGGTGATCTGCCTGCTTCGGCCTCCCAAACTGCTGGGATTACAGGCATGTGCCACTACGCCCGGCCTGGATTTTAAGTAATTATTAGAAAGTCTGGTACTTGTGTTCCCAGCTGGAGTTTACCCTGGAGGATGGTAAAGGCATGGGCCCCATGTGGTCTTTGCTCTTCGGTTGTTGAGACACCATTTATTGCAAAGCCTATGCTTTCCTCAGTCTCAAAAAAAAAAAATCCAGAGCCATTAAAGAAAATATTAATCAACTTAACTATTTAAAAAAATAGCTTTCACATAACAAAAATCACAACAAGCAGAACAAGAAATAGCCGCCAGGCTGAGACCACCATTTGTATCCTCCATCACAGATGGAGCTGGTCTCCCCCGGCACCAGGGTTAGCGGAAAATGGTCAGGAGACATGAGCAGAGTCCACTGAAAAAGCAATGCAGACGTCCTCATGCTTTGTAAGAGGTCCTCGTCCTCACCCACATTGAGACGGAGGTGCTCCCACCCGTGTCACCGAACTCCAGCGTGACACCCTCTGTGGGGGGCTGTGGAGAAGTGAGCACCTTCACGCCATTGGCAGGAGGGAAGGTGGACGGCCCCCATTGAGGAGGTCGCCGAGATTTATCAGCATGACAGCTGCACCTACCCTCTACCCAGCAGTCTCTCTCCTAGCTGGATATCCTAAAGATGCGCTGAGGATTCAAAAGGAAGATGCGTGCAGGTTGTTCACGGAGGAGTTATTTATAGTAGCAGACGGTTGGAAATAACTCAGTTTCCATCACTAGGGACTGGCTGGGTTGACCGGGCAGTCAGGAGCGATGAAGGAATTCAGAAGAGCTCTGATCCCCTTGGGTATCGAGAAAACACCAGGATAAATTATTAAGTTTAAAAAAACAAGCAAGGGGCTGGGCACGGTGGCAGAAGCCTCCTCATCCC	GAAAACACTTAAGGCAGAGGTAACCAGATGCCTCCAGGCAAAAGGGAGGACAGCGCCAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCTGTCCACCCTGAGCCCCAGTTGTCCACCCTGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCTGGGACCAGCAGTTCTGGGATCTGGGGAGAACACCTCATGCGTCTGACTCTGGGCCTTGCTGGTCACAACAGAAACCCAGGCGGGTCTCATTTCAGGCCCAGGGACTGCCGTCCTAGCAGGGAGACTGACCACAGCCAGGAAAAATGGCAGCAAAGCAACTGAGGAGGCAGGTTAAGGGAACAGCAGTAGGGAGGGTGGAGGGTGGGGGCGACGGGGTCAGCTGAGAAACGAGCCAAGGGCAAGAGAGCGTCCTCCGGGACTTAGCGGGCACTGGAGGCTCTGCACCAAGGTTCTGAGGCCGGTGGTGTGCTGAACACAGGAGGGCAGGGTGTGCAGGGCAAGAGCAGCGGCCGGTCCGCCCAGGATGGCCTAGAGGTGGGGCAGGACTCAGAGCCCCGCTGAGTGGCTGCCCAGGTGTTTGGGCATCAAGGTGACAGTCCTAGTGGTCACTGCACCTGAGGGTCAGCGGGCAGGTTTGCCCAGGGGAGCACCACCAGGACCCGTAGCTCGGTGGGGGGAAGACGCTGAGCCTCTGCCTTTCAGATGTGGGGGCAGCAAGACAGTAGGCAGGGCCCGGGGGAACATTGTTCAGGCAGTGACAGCCAGAAGTTGTTGACACCCCAGCTTTACGGAGCCCCATGTGCCAGGCTGGGTGGGCATTGCCTTCCCTGCAGAACCGCGTCCCCACCAGAGACCAGGGAAGGAAACTTCAGGACCTGTGGGAGTCCTCACAAAGCCCTCTTCTGTGTCTCTAAGAGCAAATCTGAAAGCATTAAGTCCAGAATATTTCCCAGGGATGGGTCTGGGTTTACCCAGGCTTTGTGTTTGTATTTTTAAAAGACATTTTACGGCTGGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCGAGACCAGTCTAACCAACATAGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCCGTGATCGCGCCACTGCACTCCAGTCTGGGTGACAGACTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAGACATTTTACTTCTTCGGGGTTTTTCTGGGGTGTTTTTAAAAATACAAAGTGGCACAATGAATCTTCGAGGGCCACGTCGTGTGGCCCTCGGAGGCCCTCACCAGGACAGGAGCCCCCACCGCAGGCCTCTCACCTCCCCAGCGGGTGCTCCTGTGGGCCACTCACCTCCCCAGCACCCCTGAAACCCACAGGCCTCTCACCTCCCTGGCTGAGCACCCCTGTGGGCCACTCACCTCCCCAGTGCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCCCCCCATGGGCCACTCACCTCCCCAGCACCTGCACCGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCTACTCACCTCCCCAGCACCCCCTCCCCCTGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCTTCCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCACCCCCGTGGGCCACTCACCTCCCCAGTGCCCCCTCCCCCTGCAGGCCACTCACCTCCCCAGCACCCCCACCCCACAGGCCACTCACCTCCCCGGCCAGGCGCTCCTGCGGGCCGTTCTGGGTGTCCCAGGATGCACCCTGCAGCCTTGCACTGACCTTGAAGCGCACGCACTGGATGGCGGTGCCCGTGTTGAGGCCGGCCTGCAGCAGGAGCACTAGCAGCAGCAGCAGCAGCAGCACATCGTAGGATGGCTGCAGGCGGAAGGAGGTGTGAGCAGAGTGGCCCAGCCGCCCTCCAGCCCAGGAGACCAAAGCTCCCTCGTGCCCACGGCCTTCACAAAGAGCAGGTGCCAGGGCTCGAGTCGGAGCCCCAGTAACCCAAACGCATTGCTATTTCAACAACCTGATGATAATCATTCTAGCTCAATTAATGAGGTCAATTCTGCTTTAAATTCCATCAGCTTGTGTTCAACATACAGGAATAAAAGTGACCGAGCCACTGCCAGGCCCCGTGGACAGTGCTGGCTGCTAGTGGTCAAGTCGCTCCACCCCTCCTGCTCCAACACGCGCAAGGCTCAGTCCCAGAGCCAGAGAGAATGTCCGCGGGAGGCAGAAGCGCTGACCGTTCCGTGTCAGCAGGATCCTGAGCGGAGGAGACAGGGGGCAGCCGTCCTGGGGGGATGGGGTGCACAGACCCCCAACAGCTTCACCCCTGAGCACCAGCTGCTAGGAAGGAAGGGGCAGGAGGCAGCGCGGTGAGCTCGGCAGGGAAGAGGATGGAGGGAGCGGCCGAGGATGCAGGGGGCCAGAGAGTGACCACGGAGCACCCAAAACCCTCTGTGCCCATGGATAGCTTTCCCGTGTTGGCTCAAGAAAAACAAAGCAACTAAATGTTAACACACAAAAGAGCCAAACATCTATCCAATGTCACTGCTACAAAAAGTAAGAGAAGAAACAGAACGAACAGCTCTTCTCAAGTTAACATAAAACTTTTTTTTGCGACAGTCTCCCTCTGTCACCCAGGCTGGCGTGCAGTGGCGCGATCTCGGCTCGCTGCAACCTCTACATCCCAGGTTCAAGCGATTCTCCTGCCTCAACCTCGCCAGTAGCTGGGATTACAGGTACCCGCCACCACGCCCAGCTAATTTTCGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCCTAACCTCAGGTGATCTGCCTGCTTCGGCCTCCCAAACTGCTGGGATTACAGGCATGTGCCACTACGCCCGGCCTGGATTTTAAGTAATTATTAGAAAGTCTGGTACTTGTGTTCCCAGCTGGAGTTTACCCTGGAGGATGGTAAAGGCATGGGCCCCATGTGGTCTTTGCTCTTCGGTTGTTGAGACACCATTTATTGCAAAGCCTATGCTTTCCTCAGTCTCAAAAAAAAAAAATCCAGAGCCATTAAAGAAAATATTAATCAACTTAACTATTTAAAAAAATAGCTTTCACATAACAAAAATCACAACAAGCAGAACAAGAAATAGCCGCCAGGCTGAGACCACCATTTGTATCCTCCATCACAGATGGAGCTGGTCTCCCCCGGCACCAGGGTTAGCGGAAAATGGTCAGGAGACATGAGCAGAGTCCACTGAAAAAGCAATGCAGACGTCCTCATGCTTTGTAAGAGGTCCTCGTCCTCACCCACATTGAGACGGAGGTGCTCCCACCCGTGTCACCGAACTCCAGCGTGACACCCTCTGTGGGGGGCTGTGGAGAAGTGAGCACCTTCACGCCATTGGCAGGAGGGAAGGTGGACGGCCCCCATTGAGGAGGTCGCCGAGATTTATCAGCATGACAGCTGCACCTACCCTCTACCCAGCAGTCTCTCTCCTAGCTGGATATCCTAAAGATGCGCTGAGGATTCAAAAGGAAGATGCGTGCAGGTTGTTCACGGAGGAGTTATTTATAGTAGCAGACGGTTGGAAATAACTCAGTTTCCATCACTAGGGACTGGCTGGGTTGACCGGGCAGTCAGGAGCGATGAAGGAATTCAGAAGAGCTCTGATCCCCTTGGGTATCGAGAAAACACCAGGATAAATTATTAAGTTTAAAAAAACAAGCAAGG	benign	328,341
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 22, position 50064175, gene MLC1 (modulator of VRAC current 1). What disease(s) is it linked to if pathogenic?	pathogenic; ['Inborn_genetic_diseases', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	TGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCTGGGACCAGCAGTTCTGGGATCTGGGGAGAACACCTCATGCGTCTGACTCTGGGCCTTGCTGGTCACAACAGAAACCCAGGCGGGTCTCATTTCAGGCCCAGGGACTGCCGTCCTAGCAGGGAGACTGACCACAGCCAGGAAAAATGGCAGCAAAGCAACTGAGGAGGCAGGTTAAGGGAACAGCAGTAGGGAGGGTGGAGGGTGGGGGCGACGGGGTCAGCTGAGAAACGAGCCAAGGGCAAGAGAGCGTCCTCCGGGACTTAGCGGGCACTGGAGGCTCTGCACCAAGGTTCTGAGGCCGGTGGTGTGCTGAACACAGGAGGGCAGGGTGTGCAGGGCAAGAGCAGCGGCCGGTCCGCCCAGGATGGCCTAGAGGTGGGGCAGGACTCAGAGCCCCGCTGAGTGGCTGCCCAGGTGTTTGGGCATCAAGGTGACAGTCCTAGTGGTCACTGCACCTGAGGGTCAGCGGGCAGGTTTGCCCAGGGGAGCACCACCAGGACCCGTAGCTCGGTGGGGGGAAGACGCTGAGCCTCTGCCTTTCAGATGTGGGGGCAGCAAGACAGTAGGCAGGGCCCGGGGGAACATTGTTCAGGCAGTGACAGCCAGAAGTTGTTGACACCCCAGCTTTACGGAGCCCCATGTGCCAGGCTGGGTGGGCATTGCCTTCCCTGCAGAACCGCGTCCCCACCAGAGACCAGGGAAGGAAACTTCAGGACCTGTGGGAGTCCTCACAAAGCCCTCTTCTGTGTCTCTAAGAGCAAATCTGAAAGCATTAAGTCCAGAATATTTCCCAGGGATGGGTCTGGGTTTACCCAGGCTTTGTGTTTGTATTTTTAAAAGACATTTTACGGCTGGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCGAGACCAGTCTAACCAACATAGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCCGTGATCGCGCCACTGCACTCCAGTCTGGGTGACAGACTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAGACATTTTACTTCTTCGGGGTTTTTCTGGGGTGTTTTTAAAAATACAAAGTGGCACAATGAATCTTCGAGGGCCACGTCGTGTGGCCCTCGGAGGCCCTCACCAGGACAGGAGCCCCCACCGCAGGCCTCTCACCTCCCCAGCGGGTGCTCCTGTGGGCCACTCACCTCCCCAGCACCCCTGAAACCCACAGGCCTCTCACCTCCCTGGCTGAGCACCCCTGTGGGCCACTCACCTCCCCAGTGCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCCCCCCATGGGCCACTCACCTCCCCAGCACCTGCACCGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCTACTCACCTCCCCAGCACCCCCTCCCCCTGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCTTCCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCACCCCCGTGGGCCACTCACCTCCCCAGTGCCCCCTCCCCCTGCAGGCCACTCACCTCCCCAGCCAGGCGCTCCTGCGGGCCGTTCTGGGTGTCCCAGGATGCACCCTGCAGCCTTGCACTGACCTTGAAGCGCACGCACTGGATGGCGGTGCCCGTGTTGAGGCCGGCCTGCAGCAGGAGCACTAGCAGCAGCAGCAGCAGCAGCACATCGTAGGATGGCTGCAGGCGGAAGGAGGTGTGAGCAGAGTGGCCCAGCCGCCCTCCAGCCCAGGAGACCAAAGCTCCCTCGTGCCCACGGCCTTCACAAAGAGCAGGTGCCAGGGCTCGAGTCGGAGCCCCAGTAACCCAAACGCATTGCTATTTCAACAACCTGATGATAATCATTCTAGCTCAATTAATGAGGTCAATTCTGCTTTAAATTCCATCAGCTTGTGTTCAACATACAGGAATAAAAGTGACCGAGCCACTGCCAGGCCCCGTGGACAGTGCTGGCTGCTAGTGGTCAAGTCGCTCCACCCCTCCTGCTCCAACACGCGCAAGGCTCAGTCCCAGAGCCAGAGAGAATGTCCGCGGGAGGCAGAAGCGCTGACCGTTCCGTGTCAGCAGGATCCTGAGCGGAGGAGACAGGGGGCAGCCGTCCTGGGGGGATGGGGTGCACAGACCCCCAACAGCTTCACCCCTGAGCACCAGCTGCTAGGAAGGAAGGGGCAGGAGGCAGCGCGGTGAGCTCGGCAGGGAAGAGGATGGAGGGAGCGGCCGAGGATGCAGGGGGCCAGAGAGTGACCACGGAGCACCCAAAACCCTCTGTGCCCATGGATAGCTTTCCCGTGTTGGCTCAAGAAAAACAAAGCAACTAAATGTTAACACACAAAAGAGCCAAACATCTATCCAATGTCACTGCTACAAAAAGTAAGAGAAGAAACAGAACGAACAGCTCTTCTCAAGTTAACATAAAACTTTTTTTTGCGACAGTCTCCCTCTGTCACCCAGGCTGGCGTGCAGTGGCGCGATCTCGGCTCGCTGCAACCTCTACATCCCAGGTTCAAGCGATTCTCCTGCCTCAACCTCGCCAGTAGCTGGGATTACAGGTACCCGCCACCACGCCCAGCTAATTTTCGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCCTAACCTCAGGTGATCTGCCTGCTTCGGCCTCCCAAACTGCTGGGATTACAGGCATGTGCCACTACGCCCGGCCTGGATTTTAAGTAATTATTAGAAAGTCTGGTACTTGTGTTCCCAGCTGGAGTTTACCCTGGAGGATGGTAAAGGCATGGGCCCCATGTGGTCTTTGCTCTTCGGTTGTTGAGACACCATTTATTGCAAAGCCTATGCTTTCCTCAGTCTCAAAAAAAAAAAATCCAGAGCCATTAAAGAAAATATTAATCAACTTAACTATTTAAAAAAATAGCTTTCACATAACAAAAATCACAACAAGCAGAACAAGAAATAGCCGCCAGGCTGAGACCACCATTTGTATCCTCCATCACAGATGGAGCTGGTCTCCCCCGGCACCAGGGTTAGCGGAAAATGGTCAGGAGACATGAGCAGAGTCCACTGAAAAAGCAATGCAGACGTCCTCATGCTTTGTAAGAGGTCCTCGTCCTCACCCACATTGAGACGGAGGTGCTCCCACCCGTGTCACCGAACTCCAGCGTGACACCCTCTGTGGGGGGCTGTGGAGAAGTGAGCACCTTCACGCCATTGGCAGGAGGGAAGGTGGACGGCCCCCATTGAGGAGGTCGCCGAGATTTATCAGCATGACAGCTGCACCTACCCTCTACCCAGCAGTCTCTCTCCTAGCTGGATATCCTAAAGATGCGCTGAGGATTCAAAAGGAAGATGCGTGCAGGTTGTTCACGGAGGAGTTATTTATAGTAGCAGACGGTTGGAAATAACTCAGTTTCCATCACTAGGGACTGGCTGGGTTGACCGGGCAGTCAGGAGCGATGAAGGAATTCAGAAGAGCTCTGATCCCCTTGGGTATCGAGAAAACACCAGGATAAATTATTAAGTTTAAAAAAACAAGCAAGGGGCTGGGCACGGTGGCAGAAGCCTCCTCATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCTTGAGCCCAGGAGCTCATGACCAGCTCAGGCGACAGAGTGAGACCCTGTCTCTGAAAAATAAAATAAGTAAATACATAATTAAAAAGCGAGGTACATGGCTGG	TGAGCCCCAGCCACCCACCCTGAGCCCCTGGGCCCCAGCCGTCCACCCTAAGCCCCAGCCATCCACCCTGAGCCCCAGCCGTCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAACCGCCCACCCTGAGCCCAAGCCACCCACCTTGAGCCCCAGCCGTCCATCCTGAGCCCCAGCCGCCCACCCTGAGCCCCAGCCGCCCACCCTGAGCCCCTGGGACCAGCAGTTCTGGGATCTGGGGAGAACACCTCATGCGTCTGACTCTGGGCCTTGCTGGTCACAACAGAAACCCAGGCGGGTCTCATTTCAGGCCCAGGGACTGCCGTCCTAGCAGGGAGACTGACCACAGCCAGGAAAAATGGCAGCAAAGCAACTGAGGAGGCAGGTTAAGGGAACAGCAGTAGGGAGGGTGGAGGGTGGGGGCGACGGGGTCAGCTGAGAAACGAGCCAAGGGCAAGAGAGCGTCCTCCGGGACTTAGCGGGCACTGGAGGCTCTGCACCAAGGTTCTGAGGCCGGTGGTGTGCTGAACACAGGAGGGCAGGGTGTGCAGGGCAAGAGCAGCGGCCGGTCCGCCCAGGATGGCCTAGAGGTGGGGCAGGACTCAGAGCCCCGCTGAGTGGCTGCCCAGGTGTTTGGGCATCAAGGTGACAGTCCTAGTGGTCACTGCACCTGAGGGTCAGCGGGCAGGTTTGCCCAGGGGAGCACCACCAGGACCCGTAGCTCGGTGGGGGGAAGACGCTGAGCCTCTGCCTTTCAGATGTGGGGGCAGCAAGACAGTAGGCAGGGCCCGGGGGAACATTGTTCAGGCAGTGACAGCCAGAAGTTGTTGACACCCCAGCTTTACGGAGCCCCATGTGCCAGGCTGGGTGGGCATTGCCTTCCCTGCAGAACCGCGTCCCCACCAGAGACCAGGGAAGGAAACTTCAGGACCTGTGGGAGTCCTCACAAAGCCCTCTTCTGTGTCTCTAAGAGCAAATCTGAAAGCATTAAGTCCAGAATATTTCCCAGGGATGGGTCTGGGTTTACCCAGGCTTTGTGTTTGTATTTTTAAAAGACATTTTACGGCTGGGCGCGGTGGCTCACGCCTGTAATTCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCATGAGGTCAGGAGTTCGAGACCAGTCTAACCAACATAGTGAAACCCCATCTCTACTAAAAATAGAAAAATTAGCTGGGCTTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCCGTGATCGCGCCACTGCACTCCAGTCTGGGTGACAGACTGAGACTCCTTCTCAAAAAAAAAAAAAAAAAAGAAAAGAAAGACATTTTACTTCTTCGGGGTTTTTCTGGGGTGTTTTTAAAAATACAAAGTGGCACAATGAATCTTCGAGGGCCACGTCGTGTGGCCCTCGGAGGCCCTCACCAGGACAGGAGCCCCCACCGCAGGCCTCTCACCTCCCCAGCGGGTGCTCCTGTGGGCCACTCACCTCCCCAGCACCCCTGAAACCCACAGGCCTCTCACCTCCCTGGCTGAGCACCCCTGTGGGCCACTCACCTCCCCAGTGCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCCCCCCATGGGCCACTCACCTCCCCAGCACCTGCACCGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCTACTCACCTCCCCAGCACCCCCTCCCCCTGCAGGCCACTCACCTCCCCGGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCTTCCCCCCACCCCACAGGCTTCTCACCTCCCTGGCTGGGCACCCCCGTGGGCCACTCACCTCCCCAGTGCCCCCTCCCCCTGCAGGCCACTCACCTCCCCAGCCAGGCGCTCCTGCGGGCCGTTCTGGGTGTCCCAGGATGCACCCTGCAGCCTTGCACTGACCTTGAAGCGCACGCACTGGATGGCGGTGCCCGTGTTGAGGCCGGCCTGCAGCAGGAGCACTAGCAGCAGCAGTGCCATCGTAGGATGGCTGCAGGCGGAAGGAGGTGTGAGCAGAGTGGCCCAGCCGCCCTCCAGCCCAGGAGACCAAAGCTCCCTCGTGCCCACGGCCTTCACAAAGAGCAGGTGCCAGGGCTCGAGTCGGAGCCCCAGTAACCCAAACGCATTGCTATTTCAACAACCTGATGATAATCATTCTAGCTCAATTAATGAGGTCAATTCTGCTTTAAATTCCATCAGCTTGTGTTCAACATACAGGAATAAAAGTGACCGAGCCACTGCCAGGCCCCGTGGACAGTGCTGGCTGCTAGTGGTCAAGTCGCTCCACCCCTCCTGCTCCAACACGCGCAAGGCTCAGTCCCAGAGCCAGAGAGAATGTCCGCGGGAGGCAGAAGCGCTGACCGTTCCGTGTCAGCAGGATCCTGAGCGGAGGAGACAGGGGGCAGCCGTCCTGGGGGGATGGGGTGCACAGACCCCCAACAGCTTCACCCCTGAGCACCAGCTGCTAGGAAGGAAGGGGCAGGAGGCAGCGCGGTGAGCTCGGCAGGGAAGAGGATGGAGGGAGCGGCCGAGGATGCAGGGGGCCAGAGAGTGACCACGGAGCACCCAAAACCCTCTGTGCCCATGGATAGCTTTCCCGTGTTGGCTCAAGAAAAACAAAGCAACTAAATGTTAACACACAAAAGAGCCAAACATCTATCCAATGTCACTGCTACAAAAAGTAAGAGAAGAAACAGAACGAACAGCTCTTCTCAAGTTAACATAAAACTTTTTTTTGCGACAGTCTCCCTCTGTCACCCAGGCTGGCGTGCAGTGGCGCGATCTCGGCTCGCTGCAACCTCTACATCCCAGGTTCAAGCGATTCTCCTGCCTCAACCTCGCCAGTAGCTGGGATTACAGGTACCCGCCACCACGCCCAGCTAATTTTCGTAGTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGCTGGTCTCCTAACCTCAGGTGATCTGCCTGCTTCGGCCTCCCAAACTGCTGGGATTACAGGCATGTGCCACTACGCCCGGCCTGGATTTTAAGTAATTATTAGAAAGTCTGGTACTTGTGTTCCCAGCTGGAGTTTACCCTGGAGGATGGTAAAGGCATGGGCCCCATGTGGTCTTTGCTCTTCGGTTGTTGAGACACCATTTATTGCAAAGCCTATGCTTTCCTCAGTCTCAAAAAAAAAAAATCCAGAGCCATTAAAGAAAATATTAATCAACTTAACTATTTAAAAAAATAGCTTTCACATAACAAAAATCACAACAAGCAGAACAAGAAATAGCCGCCAGGCTGAGACCACCATTTGTATCCTCCATCACAGATGGAGCTGGTCTCCCCCGGCACCAGGGTTAGCGGAAAATGGTCAGGAGACATGAGCAGAGTCCACTGAAAAAGCAATGCAGACGTCCTCATGCTTTGTAAGAGGTCCTCGTCCTCACCCACATTGAGACGGAGGTGCTCCCACCCGTGTCACCGAACTCCAGCGTGACACCCTCTGTGGGGGGCTGTGGAGAAGTGAGCACCTTCACGCCATTGGCAGGAGGGAAGGTGGACGGCCCCCATTGAGGAGGTCGCCGAGATTTATCAGCATGACAGCTGCACCTACCCTCTACCCAGCAGTCTCTCTCCTAGCTGGATATCCTAAAGATGCGCTGAGGATTCAAAAGGAAGATGCGTGCAGGTTGTTCACGGAGGAGTTATTTATAGTAGCAGACGGTTGGAAATAACTCAGTTTCCATCACTAGGGACTGGCTGGGTTGACCGGGCAGTCAGGAGCGATGAAGGAATTCAGAAGAGCTCTGATCCCCTTGGGTATCGAGAAAACACCAGGATAAATTATTAAGTTTAAAAAAACAAGCAAGGGGCTGGGCACGGTGGCAGAAGCCTCCTCATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCTTGAGCCCAGGAGCTCATGACCAGCTCAGGCGACAGAGTGAGACCCTGTCTCTGAAAAATAAAATAAGTAAATACATAATTAAAAAGCGAGGTACATGGCTGGNNNNNNNN	pathogenic	328,351
A genetic alteration at chromosome 22, position 50068477, in gene MLC1 (modulator of VRAC current 1)—benign or pathogenic? If pathogenic, which disease(s) is involved?	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	ACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCCCATAAGAGGAGCAGGTCAGTCAGGCATGAGACCACAGCTTTTCTGAGCTCGTCTTTTATAGTTTGGCTTTTGAACCACATAAATATTTTATATATTCAAAAAATACCATTTTAAAAAGAAAAAAAGCACCAAGCCCTAAAATGGAATACAACCAGAGGCCATTAAACTTAATGGGGTATCGAACCCAGAGGATAACCCCACACAGAAAGGGGCCGACTTCGATGGCGTGTGGCCGTCCCCTGCTAGCAGAATGCATGCTGAAGATAAAAGGGAAGCCTCAGGCTCACTCAGGAGATGGCCCCTGGGTGGTAATATTGTCTCTTGTAATCGTGAACAATTATATGCATATTGTAAGACAACATGAAGTAGGAGATATATTAAATGTCACAGGAAACAAAATAATTGGAGTAGGAGTGGGTGAAGCAAACACAAGAGAAGTGAAGAAAAAACCCTGGGCCGGGTGTTGTAGCTCACTCCTGTAATCCCAGCACCTGTGGGAGGCCGAGGACGCTATCCCCCTTCAGACAGTGACTCCATGCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATTACCCCATTAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCTGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATCCCCCCGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCATCAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGGCAGTGACCCCATCCTCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATTCCCCATCAGCACACGCATGTTGACCTGGAGCAAACAGCTTAATACAGGTCTTCTAATGATTTGGGTGCAAAACCACTTATACTGGAAAAAAAAAAACAAAAAAACAAAAAAACACTAGGTATCTAAGAAATACATCTAGCTACACGTGCCTGAGCCTCAGAAGTCGTGTTGGAGATAAGCTCCTACTGGGTCAGCTCAAAGTAACAGGACTTTGAATTCTCCTTAAATTCACCTGTTAAACTCAATGCAGTTCTGATGCAAATCCGAAAAGCATGTCTCATAAACCCAGGACAGATTCTAAAATGGGCTCAGGGACAGAGTGGGTCCCAGGTCCCTGTGAAGCAGGTGGTGGCCCCAGATACAGGGCGGAATCGAGGCCCCGAGGCCCTGGGGCCAGGCTGGCATTGGGGAGCACGGTCACCGCTGCCCAGGAACAGCGGAGGAGGTGCCTCCTGGAGCTGTCCCTGGAGCCAGCGCCCCCAGAGTCCCAGGCAAAGCCAGCAAGGGCCAGGCCAACACGCAGAGCACCACATGTCTGGGGGGCTCTGAAATAAAATACAACTCACTTTTATGGCTGGCGGGTAATCCTTAAACATCTCCACGATTCTCATGATGCTGAATGACAGATATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCC	ACAGGCAGATCACTTAAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTGCTAAAAGTACAAAAATTAGCCGGGTGTGTTGGCATATGCCTGTAATCCCAGATGCTCCGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGACTGTGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCTATCTTAAAAAAAAAAAAATGGCAAGGTACAGAATAGTGATTCTAGTATACAAGCTATTTTGTAAGAAAGAAAAAAAAATTATCATCTGGTTGCCCATAAGAGGAGCAGGTCAGTCAGGCATGAGACCACAGCTTTTCTGAGCTCGTCTTTTATAGTTTGGCTTTTGAACCACATAAATATTTTATATATTCAAAAAATACCATTTTAAAAAGAAAAAAAGCACCAAGCCCTAAAATGGAATACAACCAGAGGCCATTAAACTTAATGGGGTATCGAACCCAGAGGATAACCCCACACAGAAAGGGGCCGACTTCGATGGCGTGTGGCCGTCCCCTGCTAGCAGAATGCATGCTGAAGATAAAAGGGAAGCCTCAGGCTCACTCAGGAGATGGCCCCTGGGTGGTAATATTGTCTCTTGTAATCGTGAACAATTATATGCATATTGTAAGACAACATGAAGTAGGAGATATATTAAATGTCACAGGAAACAAAATAATTGGAGTAGGAGTGGGTGAAGCAAACACAAGAGAAGTGAAGAAAAAACCCTGGGCCGGGTGTTGTAGCTCACTCCTGTAATCCCAGCACCTGTGGGAGGCCGAGGACGCTATCCCCCTTCAGACAGTGACTCCATGCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATTACCCCATTAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGACAGTGACTCCATCCCCCGTCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCTATCCCCTGTCAGGCAGTGACTCCATCCCCCTGTCAGGCAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATCCCCCCGTCAGGCAGTGACTCCATCCCCCGTCAGGCAGTGACTCCATCCCCCATCAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGGCAGTGACCCCATCCTCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCATCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCATCAGACAGTGACTCCATCCCCCCATCAGGCAGTGACTCCATTCCCCATCAGCACACGCATGTTGACCTGGAGCAAACAGCTTAATACAGGTCTTCTAATGATTTGGGTGCAAAACCACTTATACTGGAAAAAAAAAAACAAAAAAACAAAAAAACACTAGGTATCTAAGAAATACATCTAGCTACACGTGCCTGAGCCTCAGAAGTCGTGTTGGAGATAAGCTCCTACTGGGTCAGCTCAAAGTAACAGGACTTTGAATTCTCCTTAAATTCACCTGTTAAACTCAATGCAGTTCTGATGCAAATCCGAAAAGCATGTCTCATAAACCCAGGACAGATTCTAAAATGGGCTCAGGGACAGAGTGGGTCCCAGGTCCCTGTGAAGCAGGTGGTGGCCCCAGATACAGGGCGGAATCGAGGCCCCGAGGCCCTGGGGCCAGGCTGGCATTGGGGAGCACGGTCACCGCTGCCCAGGAACAGCGGAGGAGGTGCCTCCTGGAGCTGTCCCTGGAGCCAGCGCCCCCAGAGTCCCAGGCAAAGCCAGCAAGGGCCAGGCCAACACGCAGAGCACCACATGTCTGGGGGGCTCTGAAATAAAATACAACTCACTTTTATGGCTGGCGGGTAATCCTTAAACATCTCCACGATTCTCATATGCTGAATGACAGATATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCCN	pathogenic	328,365
A genetic variant on chromosome 22, position 50070543, affects the gene MLC1 (modulator of VRAC current 1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	ATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCCACCAGACACTTGCTGGGACACTCTGCTGCCACATGACTGGCAATGGCACTTGGAAAGCACTAAGAGAAAAGAAAAAGGAAAGATTTTAGAGGAAATAGTCGAAGAAGTCGAATTCCAAACATGTGCCCTCCCACCAGTGACCCCTCCATGCAGGCTGCCTGGCTGGCTTGCTGTGGGGGGCAGGGGGGATGGTGCAGTGCCCAAAGGCGCAGCTGGGGCAGGGACGGGTCCGCAGGGAAGCAGGGGTAGCCTCTCAGAGGTTTTGTGTGCTCTCTGTTCCTCAACCATTGGTTTAAAATTTTAAGCCTGTAGAAAAGCTGCAAGAGCAGTGGAGGGGGCATCTGAGGCCCCAAAATCACCAGAGTCCTTGACATTCATATCTGTGCTCTCTCCAGCTCTCCCAGATAGCCTGATGCCTGAACACCTGAGAGTGCTGGCTGAGCCCAGGGCACACTCTTGCACACACCCAAAGCAGGACCACGCTCGAGAGACTCCACGTGGGGCCGATGTGGTCCATGCCCAGATTCTTCCAGTTGTCCTCATCATGTTCTTTCTTTTTAATTTTTTAATAATTTTTCTTTCTTCTTCTCCTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACTACACCAGGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGGTCATGTTATTTCTAGAGCTGTTTGTTTGTTTGCTCCTGATCCGGATTCGGTCTGCCATTGAGCTCGTAGTCTCCTTGTGGGTCCCTGTTAATCGGGGAGTCCCTCAGCCTCTGTCACCTCCGTTACCTGGTCGCTTCTGGGGGGTGCAGCCCATCAGCTGCAGTCGGGCCTCCGTGTGGGACAGGATTTCCTCATGATGAGCCTTGGGGAGCCTCGGAGGAGACTCTGCAGTGCCCCAGGGTGTGGACTGCCCCTTCCTGATGACGCTGACTTGACTCACTGGGTTAGGGGGATCTGTAGGTTCCTCTGTTGGATGGGCACCTCTTCCTTTTTATAACCAAGAAATGCCCTTTTCCCACTTATTGTGAGGAGCCTGCCTTAGTTCCGCACAATGTAGGCAGAGGGAGGATGCATGCTCTTCATCCTCTTCATCTCCCCGAAGGTGTCCAGGTGCCAGCACCCCAGCCCGGCCTGCTGGGGAGGGGGCTGCATCAGCCAGGGGCTGTGGTGAGAGGGTGGGCAGGACAGAGATGGGCTCCGAGCAGGGGAGCCTGGGCAGCAGGGAGAAGACTGGGGAGCTGAGGGGCTGCCAGTGCAAAGGCCCCAAGCCAGCTGCTGAGGTGGGTGTGGCCCTGGCCAGGGAGGCTGAGGTGTCAATACAGGGGTCTCTCCTGGGCTTGGTGCTTCTGAAAGGGCCTTCTAGCTGTAAGCAGCAGTGAGGGCACAGGAAGGGATGGTGGCTTCAGGGTGGCCTATTCAGGGCCCCAGTGAGCCATGGGAGGGCGGGAGTTTCCCCGTTCACCCAGCATGGCCACTCCGGCCCCTGCCCTAGAGGGCCAGGAAGCTCAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGA	ATCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCCACCAGACACTTGCTGGGACAACTCTGCTGCCACATGACTGGCAATGGCACTTGGAAAGCACTAAGAGAAAAGAAAAAGGAAAGATTTTAGAGGAAATAGTCGAAGAAGTCGAATTCCAAACATGTGCCCTCCCACCAGTGACCCCTCCATGCAGGCTGCCTGGCTGGCTTGCTGTGGGGGGCAGGGGGGATGGTGCAGTGCCCAAAGGCGCAGCTGGGGCAGGGACGGGTCCGCAGGGAAGCAGGGGTAGCCTCTCAGAGGTTTTGTGTGCTCTCTGTTCCTCAACCATTGGTTTAAAATTTTAAGCCTGTAGAAAAGCTGCAAGAGCAGTGGAGGGGGCATCTGAGGCCCCAAAATCACCAGAGTCCTTGACATTCATATCTGTGCTCTCTCCAGCTCTCCCAGATAGCCTGATGCCTGAACACCTGAGAGTGCTGGCTGAGCCCAGGGCACACTCTTGCACACACCCAAAGCAGGACCACGCTCGAGAGACTCCACGTGGGGCCGATGTGGTCCATGCCCAGATTCTTCCAGTTGTCCTCATCATGTTCTTTCTTTTTAATTTTTTAATAATTTTTCTTTCTTCTTCTCCTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACTACACCAGGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGGTCATGTTATTTCTAGAGCTGTTTGTTTGTTTGCTCCTGATCCGGATTCGGTCTGCCATTGAGCTCGTAGTCTCCTTGTGGGTCCCTGTTAATCGGGGAGTCCCTCAGCCTCTGTCACCTCCGTTACCTGGTCGCTTCTGGGGGGTGCAGCCCATCAGCTGCAGTCGGGCCTCCGTGTGGGACAGGATTTCCTCATGATGAGCCTTGGGGAGCCTCGGAGGAGACTCTGCAGTGCCCCAGGGTGTGGACTGCCCCTTCCTGATGACGCTGACTTGACTCACTGGGTTAGGGGGATCTGTAGGTTCCTCTGTTGGATGGGCACCTCTTCCTTTTTATAACCAAGAAATGCCCTTTTCCCACTTATTGTGAGGAGCCTGCCTTAGTTCCGCACAATGTAGGCAGAGGGAGGATGCATGCTCTTCATCCTCTTCATCTCCCCGAAGGTGTCCAGGTGCCAGCACCCCAGCCCGGCCTGCTGGGGAGGGGGCTGCATCAGCCAGGGGCTGTGGTGAGAGGGTGGGCAGGACAGAGATGGGCTCCGAGCAGGGGAGCCTGGGCAGCAGGGAGAAGACTGGGGAGCTGAGGGGCTGCCAGTGCAAAGGCCCCAAGCCAGCTGCTGAGGTGGGTGTGGCCCTGGCCAGGGAGGCTGAGGTGTCAATACAGGGGTCTCTCCTGGGCTTGGTGCTTCTGAAAGGGCCTTCTAGCTGTAAGCAGCAGTGAGGGCACAGGAAGGGATGGTGGCTTCAGGGTGGCCTATTCAGGGCCCCAGTGAGCCATGGGAGGGCGGGAGTTTCCCCGTTCACCCAGCATGGCCACTCCGGCCCCTGCCCTAGAGGGCCAGGAAGCTCAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGG	pathogenic	328,377
Does the genetic variant at chromosome 22, position 50070544, impacting gene MLC1 (modulator of VRAC current 1), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	TCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCCACCAGACACTTGCTGGGACACTCTGCTGCCACATGACTGGCAATGGCACTTGGAAAGCACTAAGAGAAAAGAAAAAGGAAAGATTTTAGAGGAAATAGTCGAAGAAGTCGAATTCCAAACATGTGCCCTCCCACCAGTGACCCCTCCATGCAGGCTGCCTGGCTGGCTTGCTGTGGGGGGCAGGGGGGATGGTGCAGTGCCCAAAGGCGCAGCTGGGGCAGGGACGGGTCCGCAGGGAAGCAGGGGTAGCCTCTCAGAGGTTTTGTGTGCTCTCTGTTCCTCAACCATTGGTTTAAAATTTTAAGCCTGTAGAAAAGCTGCAAGAGCAGTGGAGGGGGCATCTGAGGCCCCAAAATCACCAGAGTCCTTGACATTCATATCTGTGCTCTCTCCAGCTCTCCCAGATAGCCTGATGCCTGAACACCTGAGAGTGCTGGCTGAGCCCAGGGCACACTCTTGCACACACCCAAAGCAGGACCACGCTCGAGAGACTCCACGTGGGGCCGATGTGGTCCATGCCCAGATTCTTCCAGTTGTCCTCATCATGTTCTTTCTTTTTAATTTTTTAATAATTTTTCTTTCTTCTTCTCCTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACTACACCAGGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGGTCATGTTATTTCTAGAGCTGTTTGTTTGTTTGCTCCTGATCCGGATTCGGTCTGCCATTGAGCTCGTAGTCTCCTTGTGGGTCCCTGTTAATCGGGGAGTCCCTCAGCCTCTGTCACCTCCGTTACCTGGTCGCTTCTGGGGGGTGCAGCCCATCAGCTGCAGTCGGGCCTCCGTGTGGGACAGGATTTCCTCATGATGAGCCTTGGGGAGCCTCGGAGGAGACTCTGCAGTGCCCCAGGGTGTGGACTGCCCCTTCCTGATGACGCTGACTTGACTCACTGGGTTAGGGGGATCTGTAGGTTCCTCTGTTGGATGGGCACCTCTTCCTTTTTATAACCAAGAAATGCCCTTTTCCCACTTATTGTGAGGAGCCTGCCTTAGTTCCGCACAATGTAGGCAGAGGGAGGATGCATGCTCTTCATCCTCTTCATCTCCCCGAAGGTGTCCAGGTGCCAGCACCCCAGCCCGGCCTGCTGGGGAGGGGGCTGCATCAGCCAGGGGCTGTGGTGAGAGGGTGGGCAGGACAGAGATGGGCTCCGAGCAGGGGAGCCTGGGCAGCAGGGAGAAGACTGGGGAGCTGAGGGGCTGCCAGTGCAAAGGCCCCAAGCCAGCTGCTGAGGTGGGTGTGGCCCTGGCCAGGGAGGCTGAGGTGTCAATACAGGGGTCTCTCCTGGGCTTGGTGCTTCTGAAAGGGCCTTCTAGCTGTAAGCAGCAGTGAGGGCACAGGAAGGGATGGTGGCTTCAGGGTGGCCTATTCAGGGCCCCAGTGAGCCATGGGAGGGCGGGAGTTTCCCCGTTCACCCAGCATGGCCACTCCGGCCCCTGCCCTAGAGGGCCAGGAAGCTCAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAG	TCCAGAGGCTGTGAACAGCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCCACCAGACACTTGCTGGGACACTGCTGCCACATGACTGGCAATGGCACTTGGAAAGCACTAAGAGAAAAGAAAAAGGAAAGATTTTAGAGGAAATAGTCGAAGAAGTCGAATTCCAAACATGTGCCCTCCCACCAGTGACCCCTCCATGCAGGCTGCCTGGCTGGCTTGCTGTGGGGGGCAGGGGGGATGGTGCAGTGCCCAAAGGCGCAGCTGGGGCAGGGACGGGTCCGCAGGGAAGCAGGGGTAGCCTCTCAGAGGTTTTGTGTGCTCTCTGTTCCTCAACCATTGGTTTAAAATTTTAAGCCTGTAGAAAAGCTGCAAGAGCAGTGGAGGGGGCATCTGAGGCCCCAAAATCACCAGAGTCCTTGACATTCATATCTGTGCTCTCTCCAGCTCTCCCAGATAGCCTGATGCCTGAACACCTGAGAGTGCTGGCTGAGCCCAGGGCACACTCTTGCACACACCCAAAGCAGGACCACGCTCGAGAGACTCCACGTGGGGCCGATGTGGTCCATGCCCAGATTCTTCCAGTTGTCCTCATCATGTTCTTTCTTTTTAATTTTTTAATAATTTTTCTTTCTTCTTCTCCTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACTACACCAGGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGGTCATGTTATTTCTAGAGCTGTTTGTTTGTTTGCTCCTGATCCGGATTCGGTCTGCCATTGAGCTCGTAGTCTCCTTGTGGGTCCCTGTTAATCGGGGAGTCCCTCAGCCTCTGTCACCTCCGTTACCTGGTCGCTTCTGGGGGGTGCAGCCCATCAGCTGCAGTCGGGCCTCCGTGTGGGACAGGATTTCCTCATGATGAGCCTTGGGGAGCCTCGGAGGAGACTCTGCAGTGCCCCAGGGTGTGGACTGCCCCTTCCTGATGACGCTGACTTGACTCACTGGGTTAGGGGGATCTGTAGGTTCCTCTGTTGGATGGGCACCTCTTCCTTTTTATAACCAAGAAATGCCCTTTTCCCACTTATTGTGAGGAGCCTGCCTTAGTTCCGCACAATGTAGGCAGAGGGAGGATGCATGCTCTTCATCCTCTTCATCTCCCCGAAGGTGTCCAGGTGCCAGCACCCCAGCCCGGCCTGCTGGGGAGGGGGCTGCATCAGCCAGGGGCTGTGGTGAGAGGGTGGGCAGGACAGAGATGGGCTCCGAGCAGGGGAGCCTGGGCAGCAGGGAGAAGACTGGGGAGCTGAGGGGCTGCCAGTGCAAAGGCCCCAAGCCAGCTGCTGAGGTGGGTGTGGCCCTGGCCAGGGAGGCTGAGGTGTCAATACAGGGGTCTCTCCTGGGCTTGGTGCTTCTGAAAGGGCCTTCTAGCTGTAAGCAGCAGTGAGGGCACAGGAAGGGATGGTGGCTTCAGGGTGGCCTATTCAGGGCCCCAGTGAGCCATGGGAGGGCGGGAGTTTCCCCGTTCACCCAGCATGGCCACTCCGGCCCCTGCCCTAGAGGGCCAGGAAGCTCAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAGNN	pathogenic	328,378
Regarding the variant at chromosome 22 and position 50070561, affecting gene MLC1 (modulator of VRAC current 1): benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	GCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCCACCAGACACTTGCTGGGACACTCTGCTGCCACATGACTGGCAATGGCACTTGGAAAGCACTAAGAGAAAAGAAAAAGGAAAGATTTTAGAGGAAATAGTCGAAGAAGTCGAATTCCAAACATGTGCCCTCCCACCAGTGACCCCTCCATGCAGGCTGCCTGGCTGGCTTGCTGTGGGGGGCAGGGGGGATGGTGCAGTGCCCAAAGGCGCAGCTGGGGCAGGGACGGGTCCGCAGGGAAGCAGGGGTAGCCTCTCAGAGGTTTTGTGTGCTCTCTGTTCCTCAACCATTGGTTTAAAATTTTAAGCCTGTAGAAAAGCTGCAAGAGCAGTGGAGGGGGCATCTGAGGCCCCAAAATCACCAGAGTCCTTGACATTCATATCTGTGCTCTCTCCAGCTCTCCCAGATAGCCTGATGCCTGAACACCTGAGAGTGCTGGCTGAGCCCAGGGCACACTCTTGCACACACCCAAAGCAGGACCACGCTCGAGAGACTCCACGTGGGGCCGATGTGGTCCATGCCCAGATTCTTCCAGTTGTCCTCATCATGTTCTTTCTTTTTAATTTTTTAATAATTTTTCTTTCTTCTTCTCCTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACTACACCAGGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGGTCATGTTATTTCTAGAGCTGTTTGTTTGTTTGCTCCTGATCCGGATTCGGTCTGCCATTGAGCTCGTAGTCTCCTTGTGGGTCCCTGTTAATCGGGGAGTCCCTCAGCCTCTGTCACCTCCGTTACCTGGTCGCTTCTGGGGGGTGCAGCCCATCAGCTGCAGTCGGGCCTCCGTGTGGGACAGGATTTCCTCATGATGAGCCTTGGGGAGCCTCGGAGGAGACTCTGCAGTGCCCCAGGGTGTGGACTGCCCCTTCCTGATGACGCTGACTTGACTCACTGGGTTAGGGGGATCTGTAGGTTCCTCTGTTGGATGGGCACCTCTTCCTTTTTATAACCAAGAAATGCCCTTTTCCCACTTATTGTGAGGAGCCTGCCTTAGTTCCGCACAATGTAGGCAGAGGGAGGATGCATGCTCTTCATCCTCTTCATCTCCCCGAAGGTGTCCAGGTGCCAGCACCCCAGCCCGGCCTGCTGGGGAGGGGGCTGCATCAGCCAGGGGCTGTGGTGAGAGGGTGGGCAGGACAGAGATGGGCTCCGAGCAGGGGAGCCTGGGCAGCAGGGAGAAGACTGGGGAGCTGAGGGGCTGCCAGTGCAAAGGCCCCAAGCCAGCTGCTGAGGTGGGTGTGGCCCTGGCCAGGGAGGCTGAGGTGTCAATACAGGGGTCTCTCCTGGGCTTGGTGCTTCTGAAAGGGCCTTCTAGCTGTAAGCAGCAGTGAGGGCACAGGAAGGGATGGTGGCTTCAGGGTGGCCTATTCAGGGCCCCAGTGAGCCATGGGAGGGCGGGAGTTTCCCCGTTCACCCAGCATGGCCACTCCGGCCCCTGCCCTAGAGGGCCAGGAAGCTCAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAGGGGCCTCTGTGATGAGG	GCAGCGGAGACGTGAGGCTGCTTATGGCAATCAGGACCTCCACCTGGAAAAAAAGCGCGGGTTGCAGGACCACGGCCGGAGCCTGGGAGCCCAGGACAGCGGGCGTGGCCAGGGCTGGGGGGGCGGGCATGGCCGGGCACTCATGGGCATAGTCCCAAGCTGGTTCCCTGCATGACTCCTGCTGAAACCTCTGCCTTTTCTTTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAAGTCTCGCTGTGTCGCCAGGCTGGAATGCAGTGGCATGATCTTGGCTCACTGTAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACCGTGTTTTGCCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGTGATTACAGGCATGAGCCACCGCGCCCGGCCTGCCTTTCTTTCTTTTTTGAGAGGCAGCCTAGCTGTGTAGCCCAGGCAGGAGTGCGGTGGCACAATCTCTGATCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCCGCCTCGGCCTCTTGAGTAGCTGGGATTACAGACATGCGCCACCACACCTGGCTAATTGTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCAGGCTGGTCTTCAACTCCTGACCTTGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCAGCCTGCCTTTTCATTCACAGCACAGTGCCACAAGTTTTGAAATACTTACCATCTAGGCAAGGTGGCTCACATCTGTAATCCAAGCACTTTGGGAGGCCGAGGAGGGCGGATCACCTGAGGTCACGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCCATCTCTACTAAAGATACAAAAACTAAGCGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTACAATGAGCTGAGATCGTACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAACAAACAAAACCAAGAAACAAAAAACATTTACCTGCAATTCTCCACTCTTGAAAAAATAGCCCTTCCGCATGGGTCACCTCCTTCACTGCTCTGAAGTCTGTCCTTTTAACCCACCCCAAATCTTCCTGTTTGACCCATCAAGTCTCAGAGACAGCCTTCACTCATGCCAAGCATGGGCAGTCACCTTGCAAAGCACTCAGGGTCCACATTTTGGCAGCAGTCATTAACGATCGACCAGTTCAATTGTTTGCGGTCAGTTTGTGGCAGTTTCGGCCGGGCGTGGTGGCTCACACCGGTAATCCCAGCACTTTGGGAGGTTGAGGTGAGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCAGGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAAGAGAATCACTTGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAGACTGCATCTCAAAAAAGAAAAAAAAACAATCGACCAGCCTTAGGAGGTGCAGATGATGCTCAGACACTGGTCTCCTTCCAAGGGTTAGGCACAGAGAGCGCTTCCAGTGTCTACACCACCTTGTTCAGGTCTGCCTGTCCCTGAGAACAGTCCCTGCTGAGCGGGCCAGCCTCCACCTCCCACAACCCCACCTTCCTCATTGTGCAGGCCCTGCAGCCCAGTCACTGCGCTCTCTTGGGCTGGAGCCTGGTCACATGGCACCAAGGGAGGGCTAGGCCAGGCCCTGGCCCCGCTCGGTGGGTCCCTGGCACCCAGGGCTGAGGGGTTCACCCACCAGACACTTGCTGGGACACTCTGCTGCCACATGACGGCAATGGCACTTGGAAAGCACTAAGAGAAAAGAAAAAGGAAAGATTTTAGAGGAAATAGTCGAAGAAGTCGAATTCCAAACATGTGCCCTCCCACCAGTGACCCCTCCATGCAGGCTGCCTGGCTGGCTTGCTGTGGGGGGCAGGGGGGATGGTGCAGTGCCCAAAGGCGCAGCTGGGGCAGGGACGGGTCCGCAGGGAAGCAGGGGTAGCCTCTCAGAGGTTTTGTGTGCTCTCTGTTCCTCAACCATTGGTTTAAAATTTTAAGCCTGTAGAAAAGCTGCAAGAGCAGTGGAGGGGGCATCTGAGGCCCCAAAATCACCAGAGTCCTTGACATTCATATCTGTGCTCTCTCCAGCTCTCCCAGATAGCCTGATGCCTGAACACCTGAGAGTGCTGGCTGAGCCCAGGGCACACTCTTGCACACACCCAAAGCAGGACCACGCTCGAGAGACTCCACGTGGGGCCGATGTGGTCCATGCCCAGATTCTTCCAGTTGTCCTCATCATGTTCTTTCTTTTTAATTTTTTAATAATTTTTCTTTCTTCTTCTCCTTTTTTTTTTTAAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTACGGTGGCGCGATCTTGACTCACTGCAACCTCCACCTCCCAGGTTCAAGCCTCCTGAGTAGCTGGGATTATAGGCACCCACCACTACACCAGGCTAATGTTTGTATTTTTAGTAGAGACGGGGTTTCGCCTTGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCCCTGGTCATGTTATTTCTAGAGCTGTTTGTTTGTTTGCTCCTGATCCGGATTCGGTCTGCCATTGAGCTCGTAGTCTCCTTGTGGGTCCCTGTTAATCGGGGAGTCCCTCAGCCTCTGTCACCTCCGTTACCTGGTCGCTTCTGGGGGGTGCAGCCCATCAGCTGCAGTCGGGCCTCCGTGTGGGACAGGATTTCCTCATGATGAGCCTTGGGGAGCCTCGGAGGAGACTCTGCAGTGCCCCAGGGTGTGGACTGCCCCTTCCTGATGACGCTGACTTGACTCACTGGGTTAGGGGGATCTGTAGGTTCCTCTGTTGGATGGGCACCTCTTCCTTTTTATAACCAAGAAATGCCCTTTTCCCACTTATTGTGAGGAGCCTGCCTTAGTTCCGCACAATGTAGGCAGAGGGAGGATGCATGCTCTTCATCCTCTTCATCTCCCCGAAGGTGTCCAGGTGCCAGCACCCCAGCCCGGCCTGCTGGGGAGGGGGCTGCATCAGCCAGGGGCTGTGGTGAGAGGGTGGGCAGGACAGAGATGGGCTCCGAGCAGGGGAGCCTGGGCAGCAGGGAGAAGACTGGGGAGCTGAGGGGCTGCCAGTGCAAAGGCCCCAAGCCAGCTGCTGAGGTGGGTGTGGCCCTGGCCAGGGAGGCTGAGGTGTCAATACAGGGGTCTCTCCTGGGCTTGGTGCTTCTGAAAGGGCCTTCTAGCTGTAAGCAGCAGTGAGGGCACAGGAAGGGATGGTGGCTTCAGGGTGGCCTATTCAGGGCCCCAGTGAGCCATGGGAGGGCGGGAGTTTCCCCGTTCACCCAGCATGGCCACTCCGGCCCCTGCCCTAGAGGGCCAGGAAGCTCAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAGGGGCCTCTGTGATGAGGN	pathogenic	328,379
Is the chromosome 22, position 50074290 variant in MLC1 (modulator of VRAC current 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	CAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAGGGGCCTCTGTGATGAGGGCTGACTGCAGGGACAGGGAAGGGGGTAGGGCAAGTGCCTTTCATTCTCAACTTTTTGGAGGTATGTGGTCTCTGTCCTCCCTCAGCTTCGGGATGTAATCCCTGCGTTTCAGACCCCAGGGTCAGTTGTACACACCTGCAGGCGTCATTCTCTCTGTCACAGACCCGCTTGGGTGGGCACCCATGTGAGTTCTCTGTCTCAGTAGCTGGGCCTGGTCCTACCCCTTCCGGGGGTGTGGCTCTATCCCAGCTCGGTCCTGCCTGGGTCTCTTTCCCTCTCTGAGCGCCTCAGCAGCCCACTAGGTCGGGCACTGGTGCCCTGGGGGCATTGCTCTGTGCCTACTCGCCCCCACAGGGAGCTGAAACACAGCTGCTGCCAATGGGATGTGTCCACCTGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCCGGCCACACCGTTCCCGGGCAGGCGTGGGCCCCTTCTCCGCAGTCCACCCGGCCATACCATTCCCGGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCTGGCCATACTGCTCCCAGGCAGGCATGGGCCTCGGCAGCTTCAGGAAGAGCCCCACTGCTGCCCAGGAGGAGCCTGTAGCTGATGCTGGGTGCTCACCATTCCTGCTCATGTACATAAGAGAGCAGGGGCAAAATCTAAAAGTCCACACAGCATGAGACAAACCAGGGGCTGGCCGTCAACACCGGTGTGCAGGCCACTACGCGGCAAGGTGCTGAGAACCTCGTGGGGTCTGCGTCCGGAGGCAGGTGGGTGGTGGCTCTGGGTGGGCTACAGGCTGTGAGGGGATCTGGGGTGTGGAGGGGTTGCTCTAGACTCACTGTTCTGAGGGAACACACCTGTAATCCCAGCACTTTTGGGGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCGGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTCCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGCAAATTACTTGAACCCGGGGAGGGGCAGAGGTTGTAGTGAGGTGATATTGAGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAATAAATAAAACAATGCCCATGTATTGAGCATGTGGCATGTGTCAGGTGCTGTGTGACACATCTGCTGCAGTAACATTTAATGTAAAGTAATAACAGAAATATGCTGCATTGTATGAAACACATAGTGTAATATAAATGCATTATATATTAGAAAATTATATAGAATAATAAACATCTACAGCCTGACATTCATATGTTAAAAAGATTAGAATAATAAAAATAATTGGTATTTTTTTCAGGAAAAATAATATAAAATAATCACACAAACTAATATAAAAGCAGTTAATACTTTGACTCATTTAATCCTTAACTCCCCAGTTCTTCTGAAGTTGGGGGCCAGCGAGGACCCTCTGTGGTGACTCTCTGTCTGAATGCACCAAGACTGAGCTCGGGGCCCAGCCACGCAGGATCTGAGCAGTGTGGCCCAGAGCGGCGGCGGGCGGGCCAGAGGGGTTACTCACGGCCACTAGGATCCAAAAGAACGTCACTGAGAGGTGTGGGCCTGAAACTGAGTCATCCACGTTCAGGGCAATGATCCCCCCGAGGACGGCAGAGATGCCTGCGATTACCTCGACGACCTGGAGGGGACAGGACAGCATCGGCTCATAAGGAAGTGGAGACACCCCCAGATTCCCAGAATGCACTGTGCAGACATGGACCCCCAGGAGCAGGGTCCAGTGGGCTGGCCCCAGATCTAACCGTGGAGGAGCCCACCTGGATGGACCCCCAGCCTCACCTGGCCCAGACCCCCTCTGCCCTCAGCTGCGGCTTTTCACGTCCCTCCTGGAGTAAAATAGCCAAAGAGGTGTTTCCCCCACTGCTGCTTTTGTCCACAGAAACTGAGGGTATTGACCTGACAGTGGTGAGGGCAGAAAACCAAGACCCTCAGACTCCCTTCCCTGTCTCACAGTGTGGCAGGCGGCGGTGCTCAGACCCTGGACCCCATCGAAGGGACTCGGGAAAACAGGCCTGGGGCAGAAGTAGCTTCCCATAGGACACACCCACCCGTGCCATGTGGGTTTGCCATTGCCACGGCAACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGCTGGGGAAGAAACACACGCCCGAAAACCTGCTCCCGTGAAGGATCTCTGTGAGTCGCAAACACAGAGCTGTGGCCAGCAGGAAAGCCAGGCATAAGGAGTGGGCCAGCAAGGGCTTGGGGGCCGGAAGGGACCTGGGCAGCCAGGCCTTGCGTCCAGAAGGCACAAAACTCCAGATGCACAAATAAAGCTGAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCACT	CAGCCATAGGGGCTGGGGCAGCTCAATCAAGGGCCCTGCCCTGGAAGGGTCCAGGCCTGCAGCCCAGCCCCCAACTCCAGCCCCGAGCACCTGCCTCCAGCCCATGGTGCAGGGCCTGGGCCCCTCTGCCGCACCCAGGCCAGACTCAGGCAGGTGGAGCTGGGTCCCTCACCACGCATGCCTCAGCGCTCTCCTCTCCTCCTGGGGTCTCCTGCCCTGAAGAGAGGGTTGGGAGTGTGGGTGGATTTAGGGGCGCCCAGGGGGCAGCACCTGATGGGCAGGGGGTGCTCTCCGGGAAGATGGAGAGAGCAGAGCCACCCCCGAGGCAGGAGGGGTCTGCGGGATGGGAGGGGCCTCTGTGATGAGGGCTGACTGCAGGGACAGGGAAGGGGGTAGGGCAAGTGCCTTTCATTCTCAACTTTTTGGAGGTATGTGGTCTCTGTCCTCCCTCAGCTTCGGGATGTAATCCCTGCGTTTCAGACCCCAGGGTCAGTTGTACACACCTGCAGGCGTCATTCTCTCTGTCACAGACCCGCTTGGGTGGGCACCCATGTGAGTTCTCTGTCTCAGTAGCTGGGCCTGGTCCTACCCCTTCCGGGGGTGTGGCTCTATCCCAGCTCGGTCCTGCCTGGGTCTCTTTCCCTCTCTGAGCGCCTCAGCAGCCCACTAGGTCGGGCACTGGTGCCCTGGGGGCATTGCTCTGTGCCTACTCGCCCCCACAGGGAGCTGAAACACAGCTGCTGCCAATGGGATGTGTCCACCTGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCCGGCCACACCGTTCCCGGGCAGGCGTGGGCCCCTTCTCCGCAGTCCACCCGGCCATACCATTCCCGGGCAGGCGTGGGCCCCTTCTCGGCAGTCCACCTGGCCATACTGCTCCCAGGCAGGCATGGGCCTCGGCAGCTTCAGGAAGAGCCCCACTGCTGCCCAGGAGGAGCCTGTAGCTGATGCTGGGTGCTCACCATTCCTGCTCATGTACATAAGAGAGCAGGGGCAAAATCTAAAAGTCCACACAGCATGAGACAAACCAGGGGCTGGCCGTCAACACCGGTGTGCAGGCCACTACGCGGCAAGGTGCTGAGAACCTCGTGGGGTCTGCGTCCGGAGGCAGGTGGGTGGTGGCTCTGGGTGGGCTACAGGCTGTGAGGGGATCTGGGGTGTGGAGGGGTTGCTCTAGACTCACTGTTCTGAGGGAACACACCTGTAATCCCAGCACTTTTGGGGGCCGAGGCAGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAACCCGGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGTCCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTGGGCAAATTACTTGAACCCGGGGAGGGGCAGAGGTTGTAGTGAGGTGATATTGAGCCACTGCACTCCAGCCTGGGTGGCAGAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAATAAATAAAACAATGCCCATGTATTGAGCATGTGGCATGTGTCAGGTGCTGTGTGACACATCTGCTGCAGTAACATTTAATGTAAAGTAATAACAGAAATATGCTGCATTGTATGAAACACATAGTGTAATATAAATGCATTATATATTAGAAAATTATATAGAATAATAAACATCTACAGCCTGACATTCATATGTTAAAAAGATTAGAATAATAAAAATAATTGGTATTTTTTTCAGGAAAAATAATATAAAATAATCACACAAACTAATATAAAAGCAGTTAATACTTTGACTCATTTAATCCTTAACTCCCCAGTTCTTCTGAAGTTGGGGGCCAGCGAGGACCCTCTGTGGTGACTCTCTGTCTGAATGCACCAAGACTGAGCTCGGGGCCCAGCCACGCAGGATCTGAGCAGTGTGGCCCAGAGCGGCGGCGGGCGGGCCAGAGGGGTTACTCACGGCCACTAGGATCCAAAAGAACGTCACTGAGAGGTGTGGGCCTGAAACTGAGTCATCCACGTTCAGGGCAATGATCCCCCCCGAGGACGGCAGAGATGCCTGCGATTACCTCGACGACCTGGAGGGGACAGGACAGCATCGGCTCATAAGGAAGTGGAGACACCCCCAGATTCCCAGAATGCACTGTGCAGACATGGACCCCCAGGAGCAGGGTCCAGTGGGCTGGCCCCAGATCTAACCGTGGAGGAGCCCACCTGGATGGACCCCCAGCCTCACCTGGCCCAGACCCCCTCTGCCCTCAGCTGCGGCTTTTCACGTCCCTCCTGGAGTAAAATAGCCAAAGAGGTGTTTCCCCCACTGCTGCTTTTGTCCACAGAAACTGAGGGTATTGACCTGACAGTGGTGAGGGCAGAAAACCAAGACCCTCAGACTCCCTTCCCTGTCTCACAGTGTGGCAGGCGGCGGTGCTCAGACCCTGGACCCCATCGAAGGGACTCGGGAAAACAGGCCTGGGGCAGAAGTAGCTTCCCATAGGACACACCCACCCGTGCCATGTGGGTTTGCCATTGCCACGGCAACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGCTGGGGAAGAAACACACGCCCGAAAACCTGCTCCCGTGAAGGATCTCTGTGAGTCGCAAACACAGAGCTGTGGCCAGCAGGAAAGCCAGGCATAAGGAGTGGGCCAGCAAGGGCTTGGGGGCCGGAAGGGACCTGGGCAGCCAGGCCTTGCGTCCAGAAGGCACAAAACTCCAGATGCACAAATAAAGCTGAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCAC	pathogenic	328,385
Gene MLC1 (modulator of VRAC current 1) variant at chromosome 22, position 50076840—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	ACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGCTGGGGAAGAAACACACGCCCGAAAACCTGCTCCCGTGAAGGATCTCTGTGAGTCGCAAACACAGAGCTGTGGCCAGCAGGAAAGCCAGGCATAAGGAGTGGGCCAGCAAGGGCTTGGGGGCCGGAAGGGACCTGGGCAGCCAGGCCTTGCGTCCAGAAGGCACAAAACTCCAGATGCACAAATAAAGCTGAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGCCGAAACCCTGCCTCTACTAAAAATAAAATAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATTACTTGAACCTGGGAGGCAGAGGTGGCGGTGAGCTGAGATAGCACCACTGCACCCCAGCCTGGCTGATGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAATTCCTCGGGGACAACAGTGTCAACTCACCTACGGCAGTAACAAACTCCCCCTAAAAATTACAGGACACCAGCAGCACCTTTCGCGATAAGGAAGGTTATTACCAATGATACCAATAACAGACTAGAGTCTCCACAGATGAGGCGCACGCCGCCATGCGGTGTAGACAGCCAACTCTTCGCCAACTCGGAATCGAAACGTGACGTTTAATCCAGCCTCAGTCACCCCCGACAGAGTATGAGAGAAAAGAGAAAGAAGGGAAGTTTTCTTACTGAGTAAGATTTCAGGACCCGAGCAGGAAATGGCACTTCGTCCAGAATGTTGGCGCTGTCAGACATGGAGCCCTACGAAGAAACAGAACTGTCACCCCGGGTGCACGGGCACAGGGACTCAGCACTGCCGCTGGCATCCGGCCGCCGTGGGCAGTGGGTCAGGTCAGCCTGCCGTGTAGATGCGAGACCGCCTTGGAGGCGCCCGTGGATCTTTGGGCTTGAGGAAATGTTCACACACATTGTCCTTGCATATGAAAATTAGCAGATGTGGTGTCTCCTGGTGATCCCCTGGGGACGAGCACTGGACTGAGTCAGGCTTAGGGGGAGGGGAGGGTACAGCATCTGTCTTCACCTCCCTGTAGCCAGCGGCCGCCAACCCCTCACCCAGCTCCAGAGCCCCTCCTGGCCGGGGTTTCTGAGACCCAGGAGAGAGGGGTCTCATGGGAATGCCCTGGAGCAGCCCAGATCGGCCCTCCGAGGGTGACGCTGAGACCCACCTCGCTCACCCTGGGGTGATGCCTCTGCACCCCCTGCCCTGCGGGGTCAGAAGCTGCACCCACCTTCTTTTTCTTGCAGTCCTCCTCGCTGGACCGTGCAGCGATGATCACCGTGGCCGCCATGAGCAGCTCCAGCAGGAGCAGCAGGATGAGGTTGAAGTTGATCTGCCAAGGGGCACACACGCTTCAGCACCGGGCCCGCCTTTCTCACGCCACCGCGCTTCAGCGTCCACCGGACCACCTCACGGGCAGGCTGCGCAGGACTCTCAGCCACGGTCCCCACTTTTCCCATCCAGGGCCAGCTGTGAGGCACTGTGGGCTGCACACTCTCCTGCCTCACATGGGCCTTTGGGGTCTTTTAGTTTTTAAAACCATTCTTAGTGCAAAGGCTGTACAAACACAGGCCAGGGCTGGATTTGGCCTTGGGCTCTGGTCTACCGACCCCATTCTGAACGCTCCTTGTTCCCACAAAAGCCTTCACGGAATGTTTAGAGTAGCTTCATGCATGATTGTCAAGCACTGAGAACATAAGGTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTC	ACACTGGACGTCACCACCCCTTTCCGTGGCAATGATCCAACCACCTGGACGTTAGCACCCCTTTTCTAGAAATTTCTGCATAATCTGCCCCTTAATTAGCATATACTTAAAAGTGGGTATAAATAGGAGGCAGAGCTGTCTCTGAGCTGCTGCTCGAGGCACCTGCCGGTTGGAGAGCCCTGCTATACTGCCACTGCAAACAAAGCTGCTGTCTGTCACCTCCAGCTCGCCCTTGAATTCTTTCCTGGACAAAGCCAAGAACCCTGCTGGCCTAAGCCCTGGTTGTGGACTCATCTGCCCGGCACCATCAGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGGCCGCAACCAGCACCGCCAGACTCAGGGAGGGCTGGGGAAGAAACACACGCCCGAAAACCTGCTCCCGTGAAGGATCTCTGTGAGTCGCAAACACAGAGCTGTGGCCAGCAGGAAAGCCAGGCATAAGGAGTGGGCCAGCAAGGGCTTGGGGGCCGGAAGGGACCTGGGCAGCCAGGCCTTGCGTCCAGAAGGCACAAAACTCCAGATGCACAAATAAAGCTGAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGCCGAAACCCTGCCTCTACTAAAAATAAAATAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATTACTTGAACCTGGGAGGCAGAGGTGGCGGTGAGCTGAGATAGCACCACTGCACCCCAGCCTGGCTGATGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAATTCCTCGGGGACAACAGTGTCAACTCACCTACGGCAGTAACAAACTCCCCCTAAAAATTACAGGACACCAGCAGCACCTTTCGCGATAAGGAAGGTTATTACCAATGATACCAATAACAGACTAGAGTCTCCACAGATGAGGCGCACGCCGCCATGCGGTGTAGACAGCCAACTCTTCGCCAACTCGGAATCGAAACGTGACGTTTAATCCAGCCTCAGTCACCCCCGACAGAGTATGAGAGAAAAGAGAAAGAAGGGAAGTTTTCTTACTAAGATTTCAGGACCCGAGCAGGAAATGGCACTTCGTCCAGAATGTTGGCGCTGTCAGACATGGAGCCCTACGAAGAAACAGAACTGTCACCCCGGGTGCACGGGCACAGGGACTCAGCACTGCCGCTGGCATCCGGCCGCCGTGGGCAGTGGGTCAGGTCAGCCTGCCGTGTAGATGCGAGACCGCCTTGGAGGCGCCCGTGGATCTTTGGGCTTGAGGAAATGTTCACACACATTGTCCTTGCATATGAAAATTAGCAGATGTGGTGTCTCCTGGTGATCCCCTGGGGACGAGCACTGGACTGAGTCAGGCTTAGGGGGAGGGGAGGGTACAGCATCTGTCTTCACCTCCCTGTAGCCAGCGGCCGCCAACCCCTCACCCAGCTCCAGAGCCCCTCCTGGCCGGGGTTTCTGAGACCCAGGAGAGAGGGGTCTCATGGGAATGCCCTGGAGCAGCCCAGATCGGCCCTCCGAGGGTGACGCTGAGACCCACCTCGCTCACCCTGGGGTGATGCCTCTGCACCCCCTGCCCTGCGGGGTCAGAAGCTGCACCCACCTTCTTTTTCTTGCAGTCCTCCTCGCTGGACCGTGCAGCGATGATCACCGTGGCCGCCATGAGCAGCTCCAGCAGGAGCAGCAGGATGAGGTTGAAGTTGATCTGCCAAGGGGCACACACGCTTCAGCACCGGGCCCGCCTTTCTCACGCCACCGCGCTTCAGCGTCCACCGGACCACCTCACGGGCAGGCTGCGCAGGACTCTCAGCCACGGTCCCCACTTTTCCCATCCAGGGCCAGCTGTGAGGCACTGTGGGCTGCACACTCTCCTGCCTCACATGGGCCTTTGGGGTCTTTTAGTTTTTAAAACCATTCTTAGTGCAAAGGCTGTACAAACACAGGCCAGGGCTGGATTTGGCCTTGGGCTCTGGTCTACCGACCCCATTCTGAACGCTCCTTGTTCCCACAAAAGCCTTCACGGAATGTTTAGAGTAGCTTCATGCATGATTGTCAAGCACTGAGAACATAAGGTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCNNNN	pathogenic	328,391
Variant at chromosome 22, position 50077470, gene MLC1 (modulator of VRAC current 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	GAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGCCGAAACCCTGCCTCTACTAAAAATAAAATAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATTACTTGAACCTGGGAGGCAGAGGTGGCGGTGAGCTGAGATAGCACCACTGCACCCCAGCCTGGCTGATGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAATTCCTCGGGGACAACAGTGTCAACTCACCTACGGCAGTAACAAACTCCCCCTAAAAATTACAGGACACCAGCAGCACCTTTCGCGATAAGGAAGGTTATTACCAATGATACCAATAACAGACTAGAGTCTCCACAGATGAGGCGCACGCCGCCATGCGGTGTAGACAGCCAACTCTTCGCCAACTCGGAATCGAAACGTGACGTTTAATCCAGCCTCAGTCACCCCCGACAGAGTATGAGAGAAAAGAGAAAGAAGGGAAGTTTTCTTACTGAGTAAGATTTCAGGACCCGAGCAGGAAATGGCACTTCGTCCAGAATGTTGGCGCTGTCAGACATGGAGCCCTACGAAGAAACAGAACTGTCACCCCGGGTGCACGGGCACAGGGACTCAGCACTGCCGCTGGCATCCGGCCGCCGTGGGCAGTGGGTCAGGTCAGCCTGCCGTGTAGATGCGAGACCGCCTTGGAGGCGCCCGTGGATCTTTGGGCTTGAGGAAATGTTCACACACATTGTCCTTGCATATGAAAATTAGCAGATGTGGTGTCTCCTGGTGATCCCCTGGGGACGAGCACTGGACTGAGTCAGGCTTAGGGGGAGGGGAGGGTACAGCATCTGTCTTCACCTCCCTGTAGCCAGCGGCCGCCAACCCCTCACCCAGCTCCAGAGCCCCTCCTGGCCGGGGTTTCTGAGACCCAGGAGAGAGGGGTCTCATGGGAATGCCCTGGAGCAGCCCAGATCGGCCCTCCGAGGGTGACGCTGAGACCCACCTCGCTCACCCTGGGGTGATGCCTCTGCACCCCCTGCCCTGCGGGGTCAGAAGCTGCACCCACCTTCTTTTTCTTGCAGTCCTCCTCGCTGGACCGTGCAGCGATGATCACCGTGGCCGCCATGAGCAGCTCCAGCAGGAGCAGCAGGATGAGGTTGAAGTTGATCTGCCAAGGGGCACACACGCTTCAGCACCGGGCCCGCCTTTCTCACGCCACCGCGCTTCAGCGTCCACCGGACCACCTCACGGGCAGGCTGCGCAGGACTCTCAGCCACGGTCCCCACTTTTCCCATCCAGGGCCAGCTGTGAGGCACTGTGGGCTGCACACTCTCCTGCCTCACATGGGCCTTTGGGGTCTTTTAGTTTTTAAAACCATTCTTAGTGCAAAGGCTGTACAAACACAGGCCAGGGCTGGATTTGGCCTTGGGCTCTGGTCTACCGACCCCATTCTGAACGCTCCTTGTTCCCACAAAAGCCTTCACGGAATGTTTAGAGTAGCTTCATGCATGATTGTCAAGCACTGAGAACATAAGGTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTT	GAATTCCCAGCCAGGCACGGCGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAGACGGATCGTGAGGTCAGGAGTTTGAGTACAGCCTGGCCAACATGGTAAACCCCGTCTCTACTAAAAATAACAAAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCGGGAGAATCGCTTCAACTCAGGAGGCAGAGGTTGCAGTGAACCAAGATCACACCACTGCACTCTAGCCTGGGCAACAGCAGGACTCCATCTCAAAAAAAAAGGAAAAAAAAAAAAGAAGCAGAACGGAAATGGAACCTAAGAGAGGACTGAAATGCTAAATAAGGGGAAGTGAAGGCACTGGGAAACACACACAGACACAGTCAAGCACACAGGAGGCTGTCCCATTGTTGGAGTAAAAAGGCAAAATGTCACTAAATGTCACAAGCTAGACAACAAGGCCAAGGCGGAGGGAAGGGGGACAGACCCCGCATGGTCTGTTTATCAAGGAGCGTATTAGAATATGAAGGGCAACCCCCAAAAGAATACTGAAAAATTTCCCATCCAAAATTAGAGGGAAAAGGAAGGACGGAGCCTCTGCCAATTCAAAAGAAGGCAGGGAAGGAGGGAAAAAGGCAAAATCAGGGAAAATGGAAAACTCAAAAGATGGTAAAAATAAGTAGAAATTTATCAGTAATAACTCTCAGAGGAAATGGGCTACATTCAAAAAGCTAGGGAGAGAGAATGACAAGATAAAGAACAAAATACAGTTACGTGCTGCTTATAACAATTATACCAAAGTACAAGGCAAGAAAAGTTGAAAGTAAGAAGGAGAAAGAGGCCAGGTGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGAAGGCCTGGGTGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGCCGAAACCCTGCCTCTACTAAAAATAAAATAATTAGCCGGGCGTGGTGGCATGTGCCTGTAGTCCCAGCTCCTCAGGAGGCTGAGGCAGGAGAATTACTTGAACCTGGGAGGCAGAGGTGGCGGTGAGCTGAGATAGCACCACTGCACCCCAGCCTGGCTGATGGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAATTCCTCGGGGACAACAGTGTCAACTCACCTACGGCAGTAACAAACTCCCCCTAAAAATTACAGGACACCAGCAGCACCTTTCGCGATAAGGAAGGTTATTACCAATGATACCAATAACAGACTAGAGTCTCCACAGATGAGGCGCACGCCGCCATGCGGTGTAGACAGCCAACTCTTCGCCAACTCGGAATCGAAACGTGACGTTTAATCCAGCCTCAGTCACCCCCGACAGAGTATGAGAGAAAAGAGAAAGAAGGGAAGTTTTCTTACTGAGTAAGATTTCAGGACCCGAGCAGGAAATGGCACTTCGTCCAGAATGTTGGCGCTGTCAGACATGGAGCCCTACGAAGAAACAGAACTGTCACCCCGGGTGCACGGGCACAGGGACTCAGCACTGCCGCTGGCATCCGGCCGCCGTGGGCAGTGGGTCAGGTCAGCCTGCCGTGTAGATGCGAGACCGCCTTGGAGGCGCCCGTGGATCTTTGGGCTTGAGGAAATGTTCACACACATTGTCCTTGCATATGAAAATTAGCAGATGTGGTGTCTCCTGGTGATCCCCTGGGGACGAGCACTGGACTGAGTCAGGCTTAGGGGGAGGGGAGGGTACAGCATCTGTCTTCACCTCCCTGTAGCCAGCGGCCGCCAACCCCTCACCCAGCTCCAGAGCCCCTCCTGGCCGGGGTTTCTGAGACCCAGGAGAGAGGGGTCTCATGGGAATGCCCTGGAGCAGCCCAGATCGGCCCTCCGAGGGTGACGCTGAGACCCACCTCGCTCACCCTGGGGTGATGCCTCTGCACCCCCTGCCCTGCGGGGTCAGAAGCTGCACCCACCTTCTTTTTCTTGCAGTCCTCCTCGCTGGACCGTGCAGCGATGATCACCGTGGCCGCCATGAGCAGCTCCGCAGCAGGATGAGGTTGAAGTTGATCTGCCAAGGGGCACACACGCTTCAGCACCGGGCCCGCCTTTCTCACGCCACCGCGCTTCAGCGTCCACCGGACCACCTCACGGGCAGGCTGCGCAGGACTCTCAGCCACGGTCCCCACTTTTCCCATCCAGGGCCAGCTGTGAGGCACTGTGGGCTGCACACTCTCCTGCCTCACATGGGCCTTTGGGGTCTTTTAGTTTTTAAAACCATTCTTAGTGCAAAGGCTGTACAAACACAGGCCAGGGCTGGATTTGGCCTTGGGCTCTGGTCTACCGACCCCATTCTGAACGCTCCTTGTTCCCACAAAAGCCTTCACGGAATGTTTAGAGTAGCTTCATGCATGATTGTCAAGCACTGAGAACATAAGGTTTTTTGGAGGGTAATGAAACGACTGCAGGCCCTGACCGTATTGGCAGTGACATGAATTTATATGTGTGTTAATATTCATAGAAGCATACATTTTAAAAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTNNNNNNN	pathogenic	328,404
Benign or pathogenic: chromosome 22, position 50080016, gene MLC1 (modulator of VRAC current 1) variant? Disease(s) if pathogenic?	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	AAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGAATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACA	AAAGTCAGTGTAGCTGTCTGACAATTTTTTTTTTTTTTTTGAGACGGAGGTTCGCTCTTGTTGCCCAGGCTGGAGAGCAAATGGCGCAATCTCGGCTCACCGCAACCTCTGCCTCCTGGGTTCAAATGATTGTCCTGCCTCAGCCTCCCGAGTAAGCTGGGGTTACAGGCACCTACCAGCACGCCCGGCTAATTTTGTATTTTTAGTAGAGAGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGTTCCGCCCACCTCGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGCGCCCGGCCTGACAATTTTTAAAATACATTTAAAAAAGAAAGAGTGCAGAACCACATTCAACTAAAAACAGAGCCTCGAAATATATGATGTCATAACAGAGCCACAGGAAGATGTAGATATATCAGTAGAGGTGGGGAAGGACTTGAAACACTTTTCTTAGAAACTGACAGATCAGGCAGAGGGAGGCGGCTCACGCCTGTGATCCCAGCACTTTGGGGGACCGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCCAGACCAGCCTGACCAACATGGTGAAACCCCTTGTCTACTAAAAATACAAAAATCAGCTGGGTACGGTGGCGCACGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCGAGAGGCGGAGGTTGCCGTGAGCCGAGATGGAGCCACTGCACTCCAGTCTGGGCGACAGAGCGAGACTGTCTCAAAAAAAAAAAAAAATGACAGATCAAAAAGACAAAAGCATAAGGAGAACTCTAAAATTCAGAAAAGTGTGACATTAACCTTGTCTTTTATTTTCTGTATTTCTGGTGCTTTGACCTCTGGCTCCTTCCTGATCCTGAAGAGACAGCTCCTCCCAGGGCCAGCCGACAGCTACAGTGAGTAACTTGCCTCTGAGCAGTTCAGATACAAGCCACTGACCCAGGGACCACACCCCATCTGCTCTCCGTCTTAATAAAGAAGCGTCACAGGCCGGGCGCGGTGGCTCATACCTGTAATCCCAGCACTATGGGAGGCCGAGGTGGATGGATCACCTGAGGTCAGGAGTACAAGGCCAGCCTGGCCAACATGGTGAAACCTTGTCTGTACTAAAAATACAAAAATTAGCCGAGTGTGGTGGCACACGCCTGTAATCCCAGCTACTCCAGAGGCTGAGGCAGGAGAATTGCTTGAACCCGGGAGGTAGAGGTTGCAGTGAGCCGAGATGGCGCCACTACACTCCAGCCTGGGCGACAGAGCGAGATTCCTTCTCAAAAACAAAACAAAACAAAACAAAAAGGCAGTGTGGGTGTTCCCACTGGGTCCTCCTGTGTCTGCTCATTTTTCCTGCCCAACGAGAGTGGCCAGGACATACTCAAGCCTCCTCCAGCTTTCCCCAATCATCAAGTGCATTCCACATGTCACACAAAGCAGGAGGCCCTCCTTGCAGTATCTCGGATGAGGTCCTGGTTTCCTTTGGGATTTTTGTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCTTCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCCCACAACCTCTGCCCCCTACAATTTCACATTTTTGTTTAGAGGTGCATTGAACAACTGTCTTACACAGATTGGATGAAACATAGTATTATGTCACTGTTAATTTTTAAGGACTGTTGGAAAAGACATTGTTTACCAATAAATCTGTCCCGCAGAATCACGAGACTTCAATAAAGACAATTATTTTCTTTGGATGCATAAATCTCTCAACTTTAGTCAAACTCACGAGCTGTGAATAACATTTACCACCTATTTCCAGCTCAACAAACATTTGCTGACACCATTCGTGGGAGTGGGGCTGTGGGTGTCAGGCGTCTGCGCGAAGCTCGTGTGAACTCACGTTTATTGCTGATGGGTTCAGGACTAGTTTGCATCCAAACCAAATTAAACACGTAGTGGTCACAGCAAACGTGGAAACAAACAATATCTGAAAGTTGGGATCTGAAAAACAAGGCAGGAGGGGTTTTCCTTCTTTGAATAATAAAAGAAAAAAGGTAACAGATAAACCACACTTCAGGCCATTCACTAAAAATTATCCTGATTAGGACATAATGGTGGGGAGTCCTGCGTGCTCAGCCCGCTCTCCCCTCTGTGCGGCAAAGGCTGGGCTGGGCAGGAGCTTTACTGTCTGGGGGGCAACCTCGGGGGCCCCTCTCGGTGCCACAACGTCTGTGCGTGGGCACACACACAAGCACACATGGGCACACTGTCTGTCAGCCCCTCCGGCTTTCTCCCTGGCAGAGGCTGCCTGCAAGCTAGACTCACCACATTGGCGTTCCTCCTGGAGACGGTGAAGCTCACAATTGCCGAGGGGATGCACTGGAATGAAACCGGAATCCCATGAGCCTGCCGCTCACCTGAGCAACTGAGACTCTGAAATACTCTAACATTTGCGCTTCCAGAAGGATCTGAATCATATTCACAAAACAGTGTTGCCAGTCCATGCAACACAGTGGGTTGGCTTGACTAGAAGGCCCCCAGGTACTTCTCAGTTTTAATTTTTTCTTGAGATGGGGTCTCACTCTGTTGCCCAAGCTGATCTTAACTTTGGGCTCAAATGATCTGTTCACCTCAGCTTCCCAAAGCCCTGCGATTACAGGCATGAGCCGCTGCGCCCAACCCCCAGGTACTTCAAAATAATTTATTCTGAAAGAAGTTTTTATTTTTCTGATGTGCTAAAAAGATATTTGTTAATGAAGGCTCTTCTAGCTGGATAAGCTTTGAAGCCTAGAATGTAACTCACGCAGGCACAAGACCTGGTCTTTGCTGAAAATTACCCAAAAAAGGAAAAAGTATCAGCCGGGTGCAGTGGCTCACACCTCTAGTCCCAACTACTCCGGAGGCTGAGCTGGGAGGATCTCTTGAGCCCAGGAGTTCGAGGCTGCAGTGAGCTGTGAATACTCGGTGATAGAGTGAGACCTTGTCTCAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGGAGGTCTGGTGCAGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGCTGAGGCGGGTGGATCAGAGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAAAAATTAGCTGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCAGAGACGGCGCCATTGCACTCCAGCCTGTGTGACAGAGCAAGACTCCGTCAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAAGAGGAAGGAAGGAGCAAAGGAAGTAGCAAGACTCTGCATGTGAGGGAGGCAGAAAGGAGTCCCACAGCCTTCTTGTCCTCAGCCTTCTTGTCCCCACAGGGCCACACCAAGGCTAGGAGTCCAGGGCCAGGGAGGGAGGTTGGGACGTCAGGGACAGGGAGGTGGATGGAGTCGGGCCAGCCCAGGCCTGTGGCCCTTGCCGTGCAGGGCCTTGCTCCTGCAGCCATGGGACCCCGGGCCCTGAGTCGGGGGTGCAGGCCCTGAGGGGCTGAGCACAGCAGTGCTGGGTGAGGAGGCAGAAGAAGCCCCGTCGGGGCCTGAGCGAGGGGCAGAGCTAGGGCCAGGACAGCCAGGCTCAGCTCAGCACCCACTCAGGTGCCACGAGGGCCCAGGGTAGAGAAGAAAGGCCGGGGGCAGGGCCGAGTGGGGCCAAGGCTGGGCGGGGGTGGGCACTTGCCCATATCCGGCAGCCGCTGAGGCTGAAGGGGCACAGCTCACAGCTCCACTGGGACAAGGGCGGCTCCCATGGTGAGGATAAAGGCCACGGAGAAGCTTCCAGAGAGGGCAGCAGAGTGGGACGGGTCACCTGCCCCAAAGGGCTTTGTTCTAAGGGAGCAGAGACCCAGGACAGCACGGGGCGGGGCATCCACTTTGTTTTTAAGACATTTCGGGGGCGCTGCTGGGGACAN	pathogenic	328,410
Is the genetic change at chromosome 22, position 50084724, within gene MLC1 (modulator of VRAC current 1) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	TGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCCATCTGGGCCCTCCAGGTGCAACACCTGACAACATCCATCGGCAACTTCGTCCATGAACACATCACGCCGGGGACTCAAGCACGTTAAACTGCTCCAATTGGTAGCTAAACGAGAGATTGCAAAACATGCCTCTACTCAACGGCTTAATGTCTGAGCACTTACCTCCCCCGCTGCTCTGCCGTTGGGAGCACTGGTCTCTGGGTGAGGGACTTCCAGCAAGAAGTATTCACAAATGAAACAAAAGCTCAGCAAACTTGAGCTGAAGGCAGGGGAAGGAGAGCTGCTTCCTGAATATCAATGAGGGGAGGAATCGGGTGGATCGTAGAAATGTTTCGTGTTGGTTGTGTAAACCACTGCCTCGGAGCTGTCAGAACCCAACTAGGAAAGGAAGGGGCCCTGCCTGTGCCACTCGCCACAGAGCTCGGGTCTCTCAGAAGAAAGAAGCGTCCCTAAGAATAGAATCCCACCAAGTACACATTCTGAGCAGGCTCTGTTTCTGAAACGTAACTGTTTACTCGAAGGTCTTCTACATCTTTCCAAGTAGCCTTTTTCCATCCCCCACAGCCACACGGTGGGAACCTCCTTCACACGGTCACATAAGCATTCACGCACTCGGCTTAGCTGTGTGGCCTTGGGCGGCTCCGGATTCGGCCCTGTGGTTTGCGTGGGCAGCCCGGATGGCTGGTGGGCCCGGTCCTGCTGCCCCCTTTATCTCTGCTCACCAAGCAGAGAAAAACCACAGTAATGTGTGTCGCCCAGAGACACTGGCACCCTGACAACTACAGCAACGGGTTCTTTGTGCACATTGTAAAAAGGCTCAAACTAAAGTTTCTGAAAAACCAGCTCCTTAAACCATGAACCCACATTAAAACTTGAGCAAAGTCATCAGGTTCCAGACCATGGGATGTTCTGTTGTCTTCGTTTCAATCAAGCAAGAAGCTTTTAGTAAGCTTTTATTAGCTTTTAGTAAGTTTTTATTAGCTTTTAGTAAGATTACACATACAAGCATCCCTGTCCCAGTGAAAATGCCCACTAAATCACCTCGATCAAAATGCGTAAGTGTCAAGTACGCATAAATGCAGCTCAAAACACTTTGCTCAACCTCACCCCCACAGGAAACAGCAGTGATAAATTTTTAGCAATAAACGAAAGTTTAAGCTATACTAGTATTTTAGGGTTAGTTAATTTTGTGCCAGCCACCACAGCCAATGTTCTGTTGTCTTCATTTCAATCAAGCAAGGATGAGAAATAATTTTCAAAAACTATAATCTGTGAAGTCAAGAACTCATTTTAATGGATTGAGAAACCTCCCAAACTTCACTATCTTTTAAAGCGATAAACGGGATTAGTGGGAGTGGGTCCAACTGGATCGAATCCTCCTGTGTTTCTTTTTGTTTGGAAAAAAATGTTAATCGGATTTCAACATTTTTTTCTTTCAAAAGTTGCTCTCCACTTAGAAATACAAACAAGCTGCCCTGAACCAGAGGTTGCAGAGCAAATCCCTCAGCTTCCCAGATCATAAGTCATCACTTGAGAAATGCTCCCAAGTTTCTGTTGGCAACACTAGTTTCTAGAACAG	TGTTTTGAGACGAAGTTTCACTCTCATTGCCCAGGCTGGAGTGCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCCATCTGGGCCCTCCAGGTGCAACACCTGACAACATCCATCGGCAACTTCGTCCATGAACACATCACGCCGGGGACTCAAGCACGTTAAACTGCTCCAATTGGTAGCTAAACGAGAGATTGCAAAACATGCCTCTACTCAACGGCTTAATGTCTGAGCACTTACCTCCCCCGCTGCTCTGCCGTTGGGAGCACTGGTCTCTGGGTGAGGGACTTCCAGCAAGAAGTATTCACAAATGAAACAAAAGCTCAGCAAACTTGAGCTGAAGGCAGGGGAAGGAGAGCTGCTTCCTGAATATCAATGAGGGGAGGAATCGGGTGGATCGTAGAAATGTTTCGTGTTGGTTGTGTAAACCACTGCCTCGGAGCTGTCAGAACCCAACTAGGAAAGGAAGGGGCCCTGCCTGTGCCACTCGCCACAGAGCTCGGGTCTCTCAGAAGAAAGAAGCGTCCCTAAGAATAGAATCCCACCAAGTACACATTCTGAGCAGGCTCTGTTTCTGAAACGTAACTGTTTACTCGAAGGTCTTCTACATCTTTCCAAGTAGCCTTTTTCCATCCCCCACAGCCACACGGTGGGAACCTCCTTCACACGGTCACATAAGCATTCACGCACTCGGCTTAGCTGTGTGGCCTTGGGCGGCTCCGGATTCGGCCCTGTGGTTTGCGTGGGCAGCCCGGATGGCTGGTGGGCCCGGTCCTGCTGCCCCCTTTATCTCTGCTCACCAAGCAGAGAAAAACCACAGTAATGTGTGTCGCCCAGAGACACTGGCACCCTGACAACTACAGCAACGGGTTCTTTGTGCACATTGTAAAAAGGCTCAAACTAAAGTTTCTGAAAAACCAGCTCCTTAAACCATGAACCCACATTAAAACTTGAGCAAAGTCATCAGGTTCCAGACCATGGGATGTTCTGTTGTCTTCGTTTCAATCAAGCAAGAAGCTTTTAGTAAGCTTTTATTAGCTTTTAGTAAGTTTTTATTAGCTTTTAGTAAGATTACACATACAAGCATCCCTGTCCCAGTGAAAATGCCCACTAAATCACCTCGATCAAAATGCGTAAGTGTCAAGTACGCATAAATGCAGCTCAAAACACTTTGCTCAACCTCACCCCCACAGGAAACAGCAGTGATAAATTTTTAGCAATAAACGAAAGTTTAAGCTATACTAGTATTTTAGGGTTAGTTAATTTTGTGCCAGCCACCACAGCCAATGTTCTGTTGTCTTCATTTCAATCAAGCAAGGATGAGAAATAATTTTCAAAAACTATAATCTGTGAAGTCAAGAACTCATTTTAATGGATTGAGAAACCTCCCAAACTTCACTATCTTTTAAAGCGATAAACGGGATTAGTGGGAGTGGGTCCAACTGGATCGAATCCTCCTGTGTTTCTTTTTGTTTGGAAAAAAATGTTAATCGGATTTCAACATTTTTTTCTTTCAAAAGTTGCTCTCCACTTAGAAATACAAACAAGCTGCCCTGAACCAGAGGTTGCAGAGCAAATCCCTCAGCTTCCCAGATCATAAGTCATCACTTGAGAAATGCTCCCAAGTTTCTGTTGGCAACACTAGTTTCTAGAACAGN	pathogenic	328,429
The mutation in gene MLC1 (modulator of VRAC current 1) at chromosome 22, position 50084766—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	GCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCCATCTGGGCCCTCCAGGTGCAACACCTGACAACATCCATCGGCAACTTCGTCCATGAACACATCACGCCGGGGACTCAAGCACGTTAAACTGCTCCAATTGGTAGCTAAACGAGAGATTGCAAAACATGCCTCTACTCAACGGCTTAATGTCTGAGCACTTACCTCCCCCGCTGCTCTGCCGTTGGGAGCACTGGTCTCTGGGTGAGGGACTTCCAGCAAGAAGTATTCACAAATGAAACAAAAGCTCAGCAAACTTGAGCTGAAGGCAGGGGAAGGAGAGCTGCTTCCTGAATATCAATGAGGGGAGGAATCGGGTGGATCGTAGAAATGTTTCGTGTTGGTTGTGTAAACCACTGCCTCGGAGCTGTCAGAACCCAACTAGGAAAGGAAGGGGCCCTGCCTGTGCCACTCGCCACAGAGCTCGGGTCTCTCAGAAGAAAGAAGCGTCCCTAAGAATAGAATCCCACCAAGTACACATTCTGAGCAGGCTCTGTTTCTGAAACGTAACTGTTTACTCGAAGGTCTTCTACATCTTTCCAAGTAGCCTTTTTCCATCCCCCACAGCCACACGGTGGGAACCTCCTTCACACGGTCACATAAGCATTCACGCACTCGGCTTAGCTGTGTGGCCTTGGGCGGCTCCGGATTCGGCCCTGTGGTTTGCGTGGGCAGCCCGGATGGCTGGTGGGCCCGGTCCTGCTGCCCCCTTTATCTCTGCTCACCAAGCAGAGAAAAACCACAGTAATGTGTGTCGCCCAGAGACACTGGCACCCTGACAACTACAGCAACGGGTTCTTTGTGCACATTGTAAAAAGGCTCAAACTAAAGTTTCTGAAAAACCAGCTCCTTAAACCATGAACCCACATTAAAACTTGAGCAAAGTCATCAGGTTCCAGACCATGGGATGTTCTGTTGTCTTCGTTTCAATCAAGCAAGAAGCTTTTAGTAAGCTTTTATTAGCTTTTAGTAAGTTTTTATTAGCTTTTAGTAAGATTACACATACAAGCATCCCTGTCCCAGTGAAAATGCCCACTAAATCACCTCGATCAAAATGCGTAAGTGTCAAGTACGCATAAATGCAGCTCAAAACACTTTGCTCAACCTCACCCCCACAGGAAACAGCAGTGATAAATTTTTAGCAATAAACGAAAGTTTAAGCTATACTAGTATTTTAGGGTTAGTTAATTTTGTGCCAGCCACCACAGCCAATGTTCTGTTGTCTTCATTTCAATCAAGCAAGGATGAGAAATAATTTTCAAAAACTATAATCTGTGAAGTCAAGAACTCATTTTAATGGATTGAGAAACCTCCCAAACTTCACTATCTTTTAAAGCGATAAACGGGATTAGTGGGAGTGGGTCCAACTGGATCGAATCCTCCTGTGTTTCTTTTTGTTTGGAAAAAAATGTTAATCGGATTTCAACATTTTTTTCTTTCAAAAGTTGCTCTCCACTTAGAAATACAAACAAGCTGCCCTGAACCAGAGGTTGCAGAGCAAATCCCTCAGCTTCCCAGATCATAAGTCATCACTTGAGAAATGCTCCCAAGTTTCTGTTGGCAACACTAGTTTCTAGAACAGGCCCTGTTCTTTCATACAATCTTCCAACAAATTCTTGCTCCT	GCAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCCATCTGGGCCCTCCAGGTGCAACACCTGACAACATCCATCGGCAACTTCGTCCATGAACACATCACGCCGGGGACTCAAGCACGTTAAACTGCTCCAATTGGTAGCTAAACGAGAGATTGCAAAACATGCCTCTACTCAACGGCTTAATGTCTGAGCACTTACCTCCCCCGCTGCTCTGCCGTTGGGAGCACTGGTCTCTGGGTGAGGGACTTCCAGCAAGAAGTATTCACAAATGAAACAAAAGCTCAGCAAACTTGAGCTGAAGGCAGGGGAAGGAGAGCTGCTTCCTGAATATCAATGAGGGGAGGAATCGGGTGGATCGTAGAAATGTTTCGTGTTGGTTGTGTAAACCACTGCCTCGGAGCTGTCAGAACCCAACTAGGAAAGGAAGGGGCCCTGCCTGTGCCACTCGCCACAGAGCTCGGGTCTCTCAGAAGAAAGAAGCGTCCCTAAGAATAGAATCCCACCAAGTACACATTCTGAGCAGGCTCTGTTTCTGAAACGTAACTGTTTACTCGAAGGTCTTCTACATCTTTCCAAGTAGCCTTTTTCCATCCCCCACAGCCACACGGTGGGAACCTCCTTCACACGGTCACATAAGCATTCACGCACTCGGCTTAGCTGTGTGGCCTTGGGCGGCTCCGGATTCGGCCCTGTGGTTTGCGTGGGCAGCCCGGATGGCTGGTGGGCCCGGTCCTGCTGCCCCCTTTATCTCTGCTCACCAAGCAGAGAAAAACCACAGTAATGTGTGTCGCCCAGAGACACTGGCACCCTGACAACTACAGCAACGGGTTCTTTGTGCACATTGTAAAAAGGCTCAAACTAAAGTTTCTGAAAAACCAGCTCCTTAAACCATGAACCCACATTAAAACTTGAGCAAAGTCATCAGGTTCCAGACCATGGGATGTTCTGTTGTCTTCGTTTCAATCAAGCAAGAAGCTTTTAGTAAGCTTTTATTAGCTTTTAGTAAGTTTTTATTAGCTTTTAGTAAGATTACACATACAAGCATCCCTGTCCCAGTGAAAATGCCCACTAAATCACCTCGATCAAAATGCGTAAGTGTCAAGTACGCATAAATGCAGCTCAAAACACTTTGCTCAACCTCACCCCCACAGGAAACAGCAGTGATAAATTTTTAGCAATAAACGAAAGTTTAAGCTATACTAGTATTTTAGGGTTAGTTAATTTTGTGCCAGCCACCACAGCCAATGTTCTGTTGTCTTCATTTCAATCAAGCAAGGATGAGAAATAATTTTCAAAAACTATAATCTGTGAAGTCAAGAACTCATTTTAATGGATTGAGAAACCTCCCAAACTTCACTATCTTTTAAAGCGATAAACGGGATTAGTGGGAGTGGGTCCAACTGGATCGAATCCTCCTGTGTTTCTTTTTGTTTGGAAAAAAATGTTAATCGGATTTCAACATTTTTTTCTTTCAAAAGTTGCTCTCCACTTAGAAATACAAACAAGCTGCCCTGAACCAGAGGTTGCAGAGCAAATCCCTCAGCTTCCCAGATCATAAGTCATCACTTGAGAAATGCTCCCAAGTTTCTGTTGGCAACACTAGTTTCTAGAACAGGCCCTGTTCTTTCATACAATCTTCCAACAAATTCTTGCTCCTN	pathogenic	328,431
Clinical significance of chromosome 22, position 50084767, gene MLC1 (modulator of VRAC current 1): benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Megalencephalic_leukoencephalopathy_with_subcortical_cysts', 'Megalencephalic_leukoencephalopathy_with_subcortical_cysts_1']	CAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCCATCTGGGCCCTCCAGGTGCAACACCTGACAACATCCATCGGCAACTTCGTCCATGAACACATCACGCCGGGGACTCAAGCACGTTAAACTGCTCCAATTGGTAGCTAAACGAGAGATTGCAAAACATGCCTCTACTCAACGGCTTAATGTCTGAGCACTTACCTCCCCCGCTGCTCTGCCGTTGGGAGCACTGGTCTCTGGGTGAGGGACTTCCAGCAAGAAGTATTCACAAATGAAACAAAAGCTCAGCAAACTTGAGCTGAAGGCAGGGGAAGGAGAGCTGCTTCCTGAATATCAATGAGGGGAGGAATCGGGTGGATCGTAGAAATGTTTCGTGTTGGTTGTGTAAACCACTGCCTCGGAGCTGTCAGAACCCAACTAGGAAAGGAAGGGGCCCTGCCTGTGCCACTCGCCACAGAGCTCGGGTCTCTCAGAAGAAAGAAGCGTCCCTAAGAATAGAATCCCACCAAGTACACATTCTGAGCAGGCTCTGTTTCTGAAACGTAACTGTTTACTCGAAGGTCTTCTACATCTTTCCAAGTAGCCTTTTTCCATCCCCCACAGCCACACGGTGGGAACCTCCTTCACACGGTCACATAAGCATTCACGCACTCGGCTTAGCTGTGTGGCCTTGGGCGGCTCCGGATTCGGCCCTGTGGTTTGCGTGGGCAGCCCGGATGGCTGGTGGGCCCGGTCCTGCTGCCCCCTTTATCTCTGCTCACCAAGCAGAGAAAAACCACAGTAATGTGTGTCGCCCAGAGACACTGGCACCCTGACAACTACAGCAACGGGTTCTTTGTGCACATTGTAAAAAGGCTCAAACTAAAGTTTCTGAAAAACCAGCTCCTTAAACCATGAACCCACATTAAAACTTGAGCAAAGTCATCAGGTTCCAGACCATGGGATGTTCTGTTGTCTTCGTTTCAATCAAGCAAGAAGCTTTTAGTAAGCTTTTATTAGCTTTTAGTAAGTTTTTATTAGCTTTTAGTAAGATTACACATACAAGCATCCCTGTCCCAGTGAAAATGCCCACTAAATCACCTCGATCAAAATGCGTAAGTGTCAAGTACGCATAAATGCAGCTCAAAACACTTTGCTCAACCTCACCCCCACAGGAAACAGCAGTGATAAATTTTTAGCAATAAACGAAAGTTTAAGCTATACTAGTATTTTAGGGTTAGTTAATTTTGTGCCAGCCACCACAGCCAATGTTCTGTTGTCTTCATTTCAATCAAGCAAGGATGAGAAATAATTTTCAAAAACTATAATCTGTGAAGTCAAGAACTCATTTTAATGGATTGAGAAACCTCCCAAACTTCACTATCTTTTAAAGCGATAAACGGGATTAGTGGGAGTGGGTCCAACTGGATCGAATCCTCCTGTGTTTCTTTTTGTTTGGAAAAAAATGTTAATCGGATTTCAACATTTTTTTCTTTCAAAAGTTGCTCTCCACTTAGAAATACAAACAAGCTGCCCTGAACCAGAGGTTGCAGAGCAAATCCCTCAGCTTCCCAGATCATAAGTCATCACTTGAGAAATGCTCCCAAGTTTCTGTTGGCAACACTAGTTTCTAGAACAGGCCCTGTTCTTTCATACAATCTTCCAACAAATTCTTGCTCCTA	CAGTGGCACAATCTGGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGAGTACAGGCACCCACCACCGCGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTGTCCATGTTGGTCAGACTGGTCTCAAACACCTGACCTCAGGTGATCCACCCACCTCCACCCCTCAAAGTGCTGGCATGACAGCCATGAGCCACTGTGCCCGGCCCATATGAAGAGGTTTGAATGAGGTACAGGTGACAGAAACCTGCACATCTCAGAACAAAGAAACCAGAGCACGTGCCGGCGAGCTTGGGCACTGGCAGAGGCGTGGAGGAAGCTGCTTACAGAGCCTGCAGCACAGCGCAAGTAATCCATCTCAGCCGGGAACACGTTCCCCAGGTACAGCGAAAACCCCGAGGTCACCAGGAGGCAGCTCTGCAAGACAGCGACAGAATCCCAGGTTACAACGCGCCCCGTCCCCAGGCTGGACCCTGACCCTTCAACTTCTGCTTCACTGTCTGTGTATTGGTGACTCACCCACGTCCCCCAGCATCAACCACACCCGCACCTGGGACCCGCCCATCCTGGACTCCTCCTGTAGGACAGACGCAGCCCCGCCGCAGCCCAGGACATGGACCAGCCTCCCCCAGCCATGTCGGAGCATGGACCCCCCACGCTGTTATCTGGAGGAGAGAAGAAAGGGGATCTGCCAATATTTAGAGCAAGGAATGGCACCTCTCCCCACAAAATACTCCTGCCCCAACATGTTGTGCGTGCAGTCTTCCAGATCCCACACCCAGGTCCAGACACGAGACTGGAAAACAACTGCCCATCCCCCTCCGTCTGCAGAACCTAATTTCCAGATCTGGAAGAAGATCCCTCCAGGCAGGGGCTCCAGGCCCAGGGGCTCCTGAGCAGGGAAGACCCTAGCAGGAGGCAGGGAGGGTGCTCTCTCTCACGCACAGCACTGCAGGGGTGCGGTGGGGAGGGGGCTCTCTCTCACGCACAGCACCCCCGGGGTGAGTCTGAGGGGAGTCAGTATCAAAGGTCACTGGGACCCAGGGTCCTGGCAGAGGAAGCGAGGTCTGGGGCAGAGGGGATCTGGCCTGGGCGGGGGAGGGGCTGCGACCAAGTCCAGGGCACCAGGTGGAGGAGGGCAGAGCCCGGAGATGGCCACCACCACCCGGGAGCCGCCTCTGTCCCCAGCTCCGAGGCAGACGCCTGTCTTGGTGGGGCATGCTCAGGCCACGGGAGGTGGGCAGGACCACTGTGGGTGCTGCAGGGGCTGCCGGCGGAGGCCAGGGCACAGGGAGGGGAGAAATCACAGCCTGGATCTCATTCTCAGCCCAAGCTACACGGAACCGGGGGTCCCTGCATAGAGGCCTGTCCTGCAGCATGGCTCTGAGCAGCTGCACACACTCAGGCCCAAGTGGCTCCTCCAATCATCTCTGTGCCCACGACTGTGCAGGGAATGGCCAGGACCCCAGGGAAATCCCTCGGACATCTGGCGCTGCCCGTCCACCCCAGACCTGTTCCTTTGTTCCCCAGCTCCCTCCCAGCCGGCCCCTGAGGCCCTCCCTAGGAGGAGGAGGTCCCTGAGGTTCTCTCTGTGAGGGCCGACCTGAAGGCCTGAGACGCCTCCTCCCACCTTTGCAGGTGACCCCTCAGAGGACCCTGGGCCCCCAGAGCCGAGGGTCATGGAGACTCCTGGGGCCCATTCATGGCCCTGGGACTGTCCCTACCCTGGTGGGACTAAGCCACAACCTGGAGCAGCTCAAGGCTGGCACAACAGACACCCATAAATTAATAAAAATAATTGTGAAAACACAAGCAAAACAAGCTCGTCGGCATCCAAGAGTTCTGCAGCAGCAGGGTTAGTCTGAGAGTTGCTCTCTCTGTCCCACCTGGGGCTCCAGGGCGCTGCAGTCCGTCACCAGAGGGACCAGATGCTCGTGGCCCTCCAAGGGCTTAGTGTGGAGCTACTCACCCCCATCAGCACAGAGAAGACCCACGTCTTGTGGCTGAAGCAGGGGGGGCAGTCTCTTCGACAGCTGCAGGTCGCTCGGCTTCGCGTCTGGGGCATAGCTGGCGGGGTCTTGCCGGCCCCGCTCCAGCGTGGGCATCCGGTCATAGGCCAGCTCCTCTCTGAATGGCTCCTGGGTCATGGCACTTGGGGACACCACAGCTGTGCTGAATGTACAGCCACGTGTCACCAGTTCTTTATCTGGAATAAAATTATCATCGGCTTTGGCCACTCTGAGGAAACTTCAATAAGTTGTTTCCAAGAAATATTTTTTAACAAAAGAAATATTGTTCATACTGAAGTGCTCTAAATTTGAAGAAGAAAATGAGCACTTGAATCTAAAAGTGAAAAAGAAATAACTTTCCTAGAAAAACGGACCTGAATAGTCTGGGTTCAGGGTGAGATTCTACACTTTAAATGCCTCATTGATCCATCTGGGCCCTCCAGGTGCAACACCTGACAACATCCATCGGCAACTTCGTCCATGAACACATCACGCCGGGGACTCAAGCACGTTAAACTGCTCCAATTGGTAGCTAAACGAGAGATTGCAAAACATGCCTCTACTCAACGGCTTAATGTCTGAGCACTTACCTCCCCCGCTGCTCTGCCGTTGGGAGCACTGGTCTCTGGGTGAGGGACTTCCAGCAAGAAGTATTCACAAATGAAACAAAAGCTCAGCAAACTTGAGCTGAAGGCAGGGGAAGGAGAGCTGCTTCCTGAATATCAATGAGGGGAGGAATCGGGTGGATCGTAGAAATGTTTCGTGTTGGTTGTGTAAACCACTGCCTCGGAGCTGTCAGAACCCAACTAGGAAAGGAAGGGGCCCTGCCTGTGCCACTCGCCACAGAGCTCGGGTCTCTCAGAAGAAAGAAGCGTCCCTAAGAATAGAATCCCACCAAGTACACATTCTGAGCAGGCTCTGTTTCTGAAACGTAACTGTTTACTCGAAGGTCTTCTACATCTTTCCAAGTAGCCTTTTTCCATCCCCCACAGCCACACGGTGGGAACCTCCTTCACACGGTCACATAAGCATTCACGCACTCGGCTTAGCTGTGTGGCCTTGGGCGGCTCCGGATTCGGCCCTGTGGTTTGCGTGGGCAGCCCGGATGGCTGGTGGGCCCGGTCCTGCTGCCCCCTTTATCTCTGCTCACCAAGCAGAGAAAAACCACAGTAATGTGTGTCGCCCAGAGACACTGGCACCCTGACAACTACAGCAACGGGTTCTTTGTGCACATTGTAAAAAGGCTCAAACTAAAGTTTCTGAAAAACCAGCTCCTTAAACCATGAACCCACATTAAAACTTGAGCAAAGTCATCAGGTTCCAGACCATGGGATGTTCTGTTGTCTTCGTTTCAATCAAGCAAGAAGCTTTTAGTAAGCTTTTATTAGCTTTTAGTAAGTTTTTATTAGCTTTTAGTAAGATTACACATACAAGCATCCCTGTCCCAGTGAAAATGCCCACTAAATCACCTCGATCAAAATGCGTAAGTGTCAAGTACGCATAAATGCAGCTCAAAACACTTTGCTCAACCTCACCCCCACAGGAAACAGCAGTGATAAATTTTTAGCAATAAACGAAAGTTTAAGCTATACTAGTATTTTAGGGTTAGTTAATTTTGTGCCAGCCACCACAGCCAATGTTCTGTTGTCTTCATTTCAATCAAGCAAGGATGAGAAATAATTTTCAAAAACTATAATCTGTGAAGTCAAGAACTCATTTTAATGGATTGAGAAACCTCCCAAACTTCACTATCTTTTAAAGCGATAAACGGGATTAGTGGGAGTGGGTCCAACTGGATCGAATCCTCCTGTGTTTCTTTTTGTTTGGAAAAAAATGTTAATCGGATTTCAACATTTTTTTCTTTCAAAAGTTGCTCTCCACTTAGAAATACAAACAAGCTGCCCTGAACCAGAGGTTGCAGAGCAAATCCCTCAGCTTCCCAGATCATAAGTCATCACTTGAGAAATGCTCCCAAGTTTCTGTTGGCAACACTAGTTTCTAGAACAGGCCCTGTTCTTTCATACAATCTTCCAACAAATTCTTGCTCCT	pathogenic	328,432
Gene TUBGCP6 (tubulin gamma complex component 6) variant at chromosome 22, position 50218403—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic	ACCTGGACCCTTCTGGAAATGAGGGAAGTGCTAACAGCAGTGCCCATCCCACAAGCATTAAACTCGGGAGGTGGAGACTCTCCAGCAGAAAGCTGGGCAGCAGAGTGGTCCTGCCCCTCGGCCCACAAAGGGCCTTGGCCGAGCATGGGCATGCCTGGTGTGTGCCCACTGGGGTCCATCCCTGCCAGTGGGGTTCCAGGGACCTCGGGGACCGGGCTGCTTGGGCCCTTGGACTCTAGGTGAGCCGTGAGAGCGGGCTGGGGCAGGCGGAGCAGCTGCCTGCAGGGCAGGGACACGGTCAGGGGCTACCTCCCAGACACCCTGGCCTCTCCACAGGCAGCTATCCATGATGCTGATGCTGGCGCAGTCAAACCCGCAGCTGTTCGCGCTTATGGGCACCCGGGCAGGCATCGCCAGGGAGCTGGAGCGTGTGGAGCAGCAGTCTCGGCTGGAGCAGCTGAGTGCGGCAGAGCTGCAGAGCAGGAACCAGGGCCACTGGGCTGACTGGCTACAGGCGTACAGGTGAGCCCTGCGTCCATGGTCACCGGGGGACGGCGGGTCGCGTGCTGGAAAAAGTCCAGCCCGGCTGTGACTCCAGAGCCCGGATGTCATTCCAGAGCCCGGCTGGACAAGGACCTGGAAGGCGCTGGGGACGCTGCCGCCTGGCAGGCTGAGCACGTGCGCGTGATGCACGCCAACAACCCGAAGTACGTGCTGAGGAACTACATCGCGCAGAATGCCATCGAGGCTGCCGAGCGCGGGGACTTCTCAGAGGCAAGCACACGCCTGTCCCTGTGGTCCCTGGGAGGGGGGTCGGCCCCAGACCCCTCTCACCCTCCTGATCCTCCAGGTGCGGCGGGTGCTGAAACTACTGGAGACCCCTTACCACTGCGAGGCGGGGGCCGCCACAGACGCCGAGGCCACGGAAGCCGACGGGGCGGACGGCAGGCAGCGCTCCTACAGCAGTAAGCCCCCGCTCTGGGCAGCAGAACTGTGCGTGACATGATCTTCGTAACGGCCTCGGCACGCTCCACACCCCTGGAGTCTCCCGAGGCCCCCATGTGCTGCTGAGTGGCCAAGATGATGCCAGGCTGCCCTATACACTGGGGGATTCTGCCCTGGCCCATGCACACCCGTCTTTCCATGATGGCAGAGACATCCAGTCAGGACCTGACCCGTCTCTGTCTGAGGCCGGCTCAGCAGTGCAGCCTGGTCCCTGGGGGCTGGACCCAGGCTCCTAAATAAACCAGCAACTCCCTCGAGTCTGTCTCTGTGGTCATTGTTCCCCCACCCTGCCCTGTCCTCAGCCCCCACCCAGGAGAGAGAGCTGCAGACAGGGTCCGAGAACACCTTTATTGTGCACGTCCCCCGCAGAGCAGCCTCAGGCGTCCTGGTAGTAGTTGTTGAAGTTGATGCGCAGCAGAAAGTCCTCCAGGTGGGGCTGGTAGCCGCGGTTCACCAGCTTGGTCACCACTGGGGACCAGCGAGCAGCTCAGGCTTTTGCCCACAGTGTGAGCCCCGCCCTGGCCCCCCCGCAGCCCTCCCAGCCAGGGTGGGCCTCACCTTTGAAGAGAAAGTGGGAGTAGTACTTGAAGGTGTTGTAGGACTGCTGCATGAGTGCAAAGTTGGGGTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCTGGGAGATGAGCTGGCTGCGGAACTTGAGCACGAGGCTGAAGATGCTGTGGATGACGTTCATGACGGGCGCCGCCTTCTCCGTGAGCAGGCCCCTGGGGGGAAGCAGTGCTGCTGGGTGGGCTGAGCCGTGACCACAGGGACGCAGCCGCTGCCCAGGCCTCACCTGAAGACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCTGGCGGAGGGCAGAAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGAC	ACCTGGACCCTTCTGGAAATGAGGGAAGTGCTAACAGCAGTGCCCATCCCACAAGCATTAAACTCGGGAGGTGGAGACTCTCCAGCAGAAAGCTGGGCAGCAGAGTGGTCCTGCCCCTCGGCCCACAAAGGGCCTTGGCCGAGCATGGGCATGCCTGGTGTGTGCCCACTGGGGTCCATCCCTGCCAGTGGGGTTCCAGGGACCTCGGGGACCGGGCTGCTTGGGCCCTTGGACTCTAGGTGAGCCGTGAGAGCGGGCTGGGGCAGGCGGAGCAGCTGCCTGCAGGGCAGGGACACGGTCAGGGGCTACCTCCCAGACACCCTGGCCTCTCCACAGGCAGCTATCCATGATGCTGATGCTGGCGCAGTCAAACCCGCAGCTGTTCGCGCTTATGGGCACCCGGGCAGGCATCGCCAGGGAGCTGGAGCGTGTGGAGCAGCAGTCTCGGCTGGAGCAGCTGAGTGCGGCAGAGCTGCAGAGCAGGAACCAGGGCCACTGGGCTGACTGGCTACAGGCGTACAGGTGAGCCCTGCGTCCATGGTCACCGGGGGACGGCGGGTCGCGTGCTGGAAAAAGTCCAGCCCGGCTGTGACTCCAGAGCCCGGATGTCATTCCAGAGCCCGGCTGGACAAGGACCTGGAAGGCGCTGGGGACGCTGCCGCCTGGCAGGCTGAGCACGTGCGCGTGATGCACGCCAACAACCCGAAGTACGTGCTGAGGAACTACATCGCGCAGAATGCCATCGAGGCTGCCGAGCGCGGGGACTTCTCAGAGGCAAGCACACGCCTGTCCCTGTGGTCCCTGGGAGGGGGGTCGGCCCCAGACCCCTCTCACCCTCCTGATCCTCCAGGTGCGGCGGGTGCTGAAACTACTGGAGACCCCTTACCACTGCGAGGCGGGGGCCGCCACAGACGCCGAGGCCACGGAAGCCGACGGGGCGGACGGCAGGCAGCGCTCCTACAGCAGTAAGCCCCCGCTCTGGGCAGCAGAACTGTGCGTGACATGATCTTCGTAACGGCCTCGGCACGCTCCACACCCCTGGAGTCTCCCGAGGCCCCCATGTGCTGCTGAGTGGCCAAGATGATGCCAGGCTGCCCTATACACTGGGGGATTCTGCCCTGGCCCATGCACACCCGTCTTTCCATGATGGCAGAGACATCCAGTCAGGACCTGACCCGTCTCTGTCTGAGGCCGGCTCAGCAGTGCAGCCTGGTCCCTGGGGGCTGGACCCAGGCTCCTAAATAAACCAGCAACTCCCTCGAGTCTGTCTCTGTGGTCATTGTTCCCCCACCCTGCCCTGTCCTCAGCCCCCACCCAGGAGAGAGAGCTGCAGACAGGGTCCGAGAACACCTTTATTGTGCACGTCCCCCGCAGAGCAGCCTCAGGCGTCCTGGTAGTAGTTGTTGAAGTTGATGCGCAGCAGAAAGTCCTCCAGGTGGGGCTGGTAGCCGCGGTTCACCAGCTTGGTCACCACTGGGGACCAGCGAGCAGCTCAGGCTTTTGCCCACAGTGTGAGCCCCGCCCTGGCCCCCCCGCAGCCCTCCCAGCCAGGGTGGGCCTCACCTTTGAAGAGAAAGTGGGAGTAGTACTTGAAGGTGTTGTAGGACTGCTGCATGAGTGCAAAGTTGGGGTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCTGGGAGATGAGCTGGCTGCGGAACTTGAGCACGAGGCTGAAGATGCTGTGGATGACGTTCATGACGGGCGCCGCCTTCTCCGTGAGCAGGCCCCTGGGGGGAAGCAGTGCTGCTGGGTGGGCTGAGCCGTGACCACAGGGACGCAGCCGCTGCCCAGGCCTCACCTGAAGACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACNNNNNNNNNNNNNN	pathogenic	328,458
Evaluate the clinical significance of the mutation at chromosome 22, position 50219957 in gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Microcephaly_and_chorioretinopathy_1']	GGGCCTCACCTTTGAAGAGAAAGTGGGAGTAGTACTTGAAGGTGTTGTAGGACTGCTGCATGAGTGCAAAGTTGGGGTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCTGGGAGATGAGCTGGCTGCGGAACTTGAGCACGAGGCTGAAGATGCTGTGGATGACGTTCATGACGGGCGCCGCCTTCTCCGTGAGCAGGCCCCTGGGGGGAAGCAGTGCTGCTGGGTGGGCTGAGCCGTGACCACAGGGACGCAGCCGCTGCCCAGGCCTCACCTGAAGACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCTGGCGGAGGGCAGAAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACC	GGGCCTCACCTTTGAAGAGAAAGTGGGAGTAGTACTTGAAGGTGTTGTAGGACTGCTGCATGAGTGCAAAGTTGGGGTGCTCTGCACCCCGCGGGCCCCCAGGGGGCCCCCAGGCCTGGGAGATGAGCTGGCTGCGGAACTTGAGCACGAGGCTGAAGATGCTGTGGATGACGTTCATGACGGGCGCCGCCTTCTCCGTGAGCAGGCCCCTGGGGGGAAGCAGTGCTGCTGGGTGGGCTGAGCCGTGACCACAGGGACGCAGCCGCTGCCCAGGCCTCACCTGAAGACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCTGGCGGAGGGCAGAAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACCNN	pathogenic	328,483
Clinical classification of chromosome 22, position 50220243, gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? Disease(s) if pathogenic?	benign	ACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCTGGCGGAGGGCAGAAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACCCTGGGTTCCACTCTGCCGCTTACCTGGGGGTGCACGCTCAAGAGGACGTCTGGCGGCTCCTGGGGCTGGTGAGCCTCAGACACTGCTTTCAGCATCTCCTGAAATTCAAGCCAGAGGGGTGACTGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTA	ACGGCCTTGTGCAGGTACTCTGCGTGCGCACGCTGGATCTCCTCCAGGTCGCCCACGGTGGCCAACCTGGCCCTGAACTCGCACCAGGTGACGTGCAGGATCTGGTTGGCGATGTAGCCCTGGATGACCTTCACGAAATGCTGCATCTCGTGCTTGAACAGCTGCAGCTGACGGAACTGCACAGAGCCGGCCATGTGGCTCAGCAGGGCTGGCGGAGGGCAGAAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACCCTGGGTTCCACTCTGCCGCTTACCTGGGGGTGCACGCTCAAGAGGACGTCTGGCGGCTCCTGGGGCTGGTGAGCCTCAGACACTGCTTTCAGCATCTCCTGAAATTCAAGCCAGAGGGGTGACTGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTANN	benign	328,489
Considering the variant on chromosome 22, location 50220465, involving gene TUBGCP6 (tubulin gamma complex component 6), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Microcephaly_and_chorioretinopathy_1']	AAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACCCTGGGTTCCACTCTGCCGCTTACCTGGGGGTGCACGCTCAAGAGGACGTCTGGCGGCTCCTGGGGCTGGTGAGCCTCAGACACTGCTTTCAGCATCTCCTGAAATTCAAGCCAGAGGGGTGACTGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCC	AAGGCAGAGGGCAGAGGTGAGCGCAGCCTCCAGCCAGGGGTGCGGGGCGCCGGGCTCCAGCGGGGCCTCACCTGTGCGCTTGAGGTGGAAGCAGACGTCCTTGAGCGCCCACATCATGAGCTTCAGCTGCAGCAGGAAGGAGAAGACGCCGCTGTACTTGCTCACGCAGCCCTCGGTGATGACAATGTTGAGAGGCCAGTCCACCTGCCAGGAGGCGTGGCTCAGCAGGCATCCCACAGGCAGGCAGGCCCCTGTCCCATCCCCCGCGGCCAGGGCTGCTGCTGACCTTGTACCTGAGCTCCAGGCAGCTCAGCACATCCGGGGCGTTGGGGGCAAACACCTCGGGCAGGTACTTGAGAGCGAGGGAGAGGTTGGAGGCGTGCGGGGTGTCCCCATGCAGGCTGCACTGCAGGGCCTTGCTCAGCACAGAGTTCAGCACCAGCGGGTTGAGCAGCTCTCCGGGCGTTTGCCCAGCTCCAAGCTAGGCAGAAAAGGGACCACCGTCCCCAGGAGTCCCAAGCACATGCCTGGCACTCGCCGGCACCCCATGGGGCTGTGCCAGAGCAGCAGGGGGCTGTGGGCGTGCAGCCAGTCTCTCTTTTCCCACGGCCTCCCCTCTACCACTGGCCCCACCCCGTGTCCGGAGGCCACCTTCTCAAAGAGCAGGTCGCTGAGGGACTGGGCGAACTCGCCGTCCTCCATCAGCAGGAAGTGCCGCAGTGCCTCATAGTGCGCCTCCAGGTGCAGCTCCACGAAGAAGTAGTCGACAGCGGCCTTGTTCACCAAGGAGATGCTGGCAGGAGGGAGCTGGAGTCAGGGCGGGCCAGGACGGGCTGGGTGGGCAGACTGGCGCAGGGGCAGGGGCACTCACTGGGCGGCCAGCGGTGCCGTGATGGAGCGCTTCATGAGCACGGGCAGCGTCAGCAACTCGCTCAGCTGCACAGCAGTCTCATCAGCGGCAGACTGGACCTGGGGGTCCACGGGGAAGGCGAAGGCCCGGGGAAGCACGGGGCGCAAAAGATGAGCAATGGGCGGCTCGGCTGCGGGAGATGGAGCACGCACGTGCTGGGAACCGGCCAGCCCAGGGCTCCGCCCCCATCCACAGGAGATGGAGCACGTGCTGGGAACTGGCTAGCCCAGGGCTCCGCCCCAACCCACAGGAGGTGGAGCACGTGCTGGGAACCAGCCAGCCCAGGGCTCCCTGCCAACAGCAACTGCTGCACTCACACATGGACTCGTAACTGTCCGGGTACCGCTCCAAGTGGTACTGCCCTGCCAGGCCTGCCAGGTAGGCCTGCTCCCCACCCTGAGCCTCCGCCGCCGATGCCTCCGCCTCCTCACCACGGCCTGGGCTGCTCTGGGCAGCTGTGTCTTCCTAACAAAACACCAGCCTCAGAACCACCTCCCCACTGCACGCTGTCCCCACAACCAGCTTGTGCCAAAAAAAGGAAAATCGCATGTGGGACCCACCCGCGTGACAACCTAGAGGGACAGAGCCCTCCCTGCCTGCTGTGGGACCCCCAGGCTGCATCCACCTAACCTGTGAGTTGAGAGGCCAATTTGGAGAGAGGTCCTCAGTGTCCCCGCTCCTCCCAGGGCCTGTGTGGACACAAGTGGACACGAGGGCATCAGGGCCGAGTGCCTGTGGCGGGTACAGAGCCGAGCCGGCCCTGGCTCAAGCAGCCCCTCCCATGTCCCCCACAGCAGCCCAGGTCCTGGCTGACAAGGAGGCCTGAGGGGAACTTCACATGCCACCAACCCCACTGCCCGCCTACCTCCCAGGCTCTGTGCGTCCCACAGTCCCACTCCTGACCACCAGCCACCCTACTCTGACCTAGTTCTTCAGAGACACTGTCTCCCGGGGTGTTGGGCCACCATGGTTGGGTGGGAGCCACGTCTGACACGTTCTCCCCCACGCTGATGCTCCCCTCCCCGCAGCCCGAGCTGGGGGAGGACAGAGATGGCCCCACTTCTACAGGCAGCCGTGGCCCACAGTCCAGCACAGTGCTCTGTGCTCCCAGGCTGAGCGCTGACTGGGACGTGTGGCCAGGGGGGGCTCTGTTGGGGCCTGGGTGTGTTGGGCTCAGCTTCTGGTGAGAGAGCCCCCAGCACCATGTGGGGCGGAGGGATGGGTACATGGGTGTTCCACCGTGGCCGGGTGGAAACCACATCCGACACAGGCTCCCCCAAGCTGATGCTGGCGTCGGACACGTGTCCATGGGTGTTGCACCGTGACCGGATGGGAGCCACGTCCGATACGTTCTCCCCAACCCTGATGCTGGTGTCAGACACATGTCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCAGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGCGGGAGCCATGTCTGACACAGACTCCCCCAAGCTGATGCTGGCATCGGACACGTGTCCATGGGTGTTCCACCGTGGCCGGGTGGGAGCCACGTCCGACACGTTCTCCCCAACCCTGATGCTGGCGTTGGACACGTGCCCGTGGGTATTCCACCGTGGCCTGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTTGGACACATGTCCATGGATGTTCCACCGTGGCCGAGTGGGAGCCACATCTGACACAGACTCCCCTAAGCTGATGCTGGCATTGGATACGTGTCCGTGGGTGTTCCACCGTGGCTGGGTGGGAGCCACATCTGACACATTCTCCCCGACCCTGATGCTGGCGTCAGACACGTGCCCGTGGGTGTTCCACCGTGGCCGGGTGGGAGCTATTTCAGAAGCGTAGTCCCCTGTGGGAAGACCACCCCCTGACACCTGCCCAAAGAGCCGCTCTGTGGGCTGGCTGCTCCCCTCCTCCAGAGCAGCACGCCTGGGTGGGTGTGAGGGGAGCAGAGTCTCCCGCGAGGCGGAGCCACAGGCATCCATCTTCCCACAACTGTCCTCCCACAGCTGTAGCCCTGAGCTGCCCAAGCTGCACTCTGCAGCCTGCAGGGGCCCTGGTGCAGGTGAGGTGGCCACAGCTGGCCTCAGGACAGTACTAAAGTCGTACTCCTGTGGCCTGGAGGGCTGAGTGCTGGCTGCTGCGGGTGCCTCCCCAGGAGCTGAGGGGGGCAGGTCCAAGTTAATGGTCTGCAGCGCCACCTCCAGGAGAGGGACCATGCCAGTCTGCACGGACGGCTCAGCCCCTGGGCCCACAGGTAGGAAGTCTCCAATGCTGAGGCTGTCAGAGAAGGGTCTGGCCCCCTCCGCCTGCTGCAGCCCCCTGCCACCAGCCCCCACTGCTAGAGGCTTAAGGGGCTGTGGGGTCAGCAGGCCTGGCCTGTTCCAGCCATCCCAGGCAGGCGAGTGTTGCTCTGCAGACCCAGAATCACAGCCTTGGCCTCCCTCTGGGTGCTCAGGGCCCGGAGACGTGACCTGAAACACAGGTGACATCAGACCCAGTCTGGTCTCAGGACCCCCCAGCCCTCGAACTGTCCCCCAAGTTCAGCTCTGCAGCCATGACCAACACCAGGTGCCGAGGGCTATGGGAAAACCATAGGGCACCCTGGGTTCCACTCTGCCGCTTACCTGGGGGTGCACGCTCAAGAGGACGTCTGGCGGCTCCTGGGGCTGGTGAGCCTCAGACACTGCTTTCAGCATCTCCTGAAATTCAAGCCAGAGGGGTGACTGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGC	pathogenic	328,494
The chromosome 22, position 50224176 genetic variant in gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Microcephaly_and_chorioretinopathy_1']	TGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACAGGCACGCGCACCCCTCCACACACATCCCTCACTCGCTCCATAAAGAGATCTAAGGTTGGGACCTACAGCATCGCGTGGGGCTGAGCAGGAAGCGGCCAGCCCCTCCCGTGAGGGGCTCTCTCCAAAACCCCAAACAGCCCCTTGAAGGATCCAGCACTACTCAGCCTGGGACAGCCTGATGACAGCACAGGACAGGTTGATAACAGCACAGGGAGACAGACGCAGATGCTGTGCTGGACAAATGCCCTGTCTCAGCCGAGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACCCCGTCTGTACTAAAAATACAAAAAACTAGCTGGATGTGGTGGCGGATGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCCAAAAAAAAAAAAAAAAAAAAAAACGCCCTGTCTCTGTCAGACCAATAACAGACTTAAAAATAAATAAGGAAGGATGTTCAGAAAGAAGATAAATAAAGAGACAGGACCCCAAACAGTACGCAGGCCTCGCCTGGACCCTAATCCATACAAACCACCACAAGACAACGCGCAGAACAGCTAAGGATGCCTGGATAAGGCAGAACGCCCACAGCCACTCTGGGTTCAGCATATTGGTCTTTCTACCTTAATGTATGTTTGAAGGTTTTCAAAACAAAAAGTAAAATCATCAGTAAGATTAAGCCAGAGCTATGGGGCCCCTGCCGCACTGCACCCCTGGGCCTGGAGCCCGGGCTGCCCTACCTCGCCTTCCTCTCCAGCTCCTCCTCCAGGGACTTCAGCCTTCTCTCCCTGTCTCGGAGTTCACGGGCGTAGCTGAAGTCATCATCCAGCTCCTCCTGCCTGGCCGCCTGGCGTCGCTATAAAACACATAGAGCCTGGCCTGTGAAATCAGAACTGACAGGCGTGACCCCGCAGGGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATG	TGGCCAAGCCGGAGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACAGGCACGCGCACCCCTCCACACACATCCCTCACTCGCTCCATAAAGAGATCTAAGGTTGGGACCTACAGCATCGCGTGGGGCTGAGCAGGAAGCGGCCAGCCCCTCCCGTGAGGGGCTCTCTCCAAAACCCCAAACAGCCCCTTGAAGGATCCAGCACTACTCAGCCTGGGACAGCCTGATGACAGCACAGGACAGGTTGATAACAGCACAGGGAGACAGACGCAGATGCTGTGCTGGACAAATGCCCTGTCTCAGCCGAGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACCCCGTCTGTACTAAAAATACAAAAAACTAGCTGGATGTGGTGGCGGATGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCCAAAAAAAAAAAAAAAAAAAAAAACGCCCTGTCTCTGTCAGACCAATAACAGACTTAAAAATAAATAAGGAAGGATGTTCAGAAAGAAGATAAATAAAGAGACAGGACCCCAAACAGTACGCAGGCCTCGCCTGGACCCTAATCCATACAAACCACCACAAGACAACGCGCAGAACAGCTAAGGATGCCTGGATAAGGCAGAACGCCCACAGCCACTCTGGGTTCAGCATATTGGTCTTTCTACCTTAATGTATGTTTGAAGGTTTTCAAAACAAAAAGTAAAATCATCAGTAAGATTAAGCCAGAGCTATGGGGCCCCTGCCGCACTGCACCCCTGGGCCTGGAGCCCGGGCTGCCCTACCTCGCCTTCCTCTCCAGCTCCTCCTCCAGGGACTTCAAGCCTTCTCTCCCTGTCTCGGAGTTCACGGGCGTAGCTGAAGTCATCATCCAGCTCCTCCTGCCTGGCCGCCTGGCGTCGCTATAAAACACATAGAGCCTGGCCTGTGAAATCAGAACTGACAGGCGTGACCCCGCAGGGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCAT	pathogenic	328,538
Variant in TUBGCP6 (tubulin gamma complex component 6), chromosome 22, position 50224188—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic	AGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACAGGCACGCGCACCCCTCCACACACATCCCTCACTCGCTCCATAAAGAGATCTAAGGTTGGGACCTACAGCATCGCGTGGGGCTGAGCAGGAAGCGGCCAGCCCCTCCCGTGAGGGGCTCTCTCCAAAACCCCAAACAGCCCCTTGAAGGATCCAGCACTACTCAGCCTGGGACAGCCTGATGACAGCACAGGACAGGTTGATAACAGCACAGGGAGACAGACGCAGATGCTGTGCTGGACAAATGCCCTGTCTCAGCCGAGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACCCCGTCTGTACTAAAAATACAAAAAACTAGCTGGATGTGGTGGCGGATGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCCAAAAAAAAAAAAAAAAAAAAAAACGCCCTGTCTCTGTCAGACCAATAACAGACTTAAAAATAAATAAGGAAGGATGTTCAGAAAGAAGATAAATAAAGAGACAGGACCCCAAACAGTACGCAGGCCTCGCCTGGACCCTAATCCATACAAACCACCACAAGACAACGCGCAGAACAGCTAAGGATGCCTGGATAAGGCAGAACGCCCACAGCCACTCTGGGTTCAGCATATTGGTCTTTCTACCTTAATGTATGTTTGAAGGTTTTCAAAACAAAAAGTAAAATCATCAGTAAGATTAAGCCAGAGCTATGGGGCCCCTGCCGCACTGCACCCCTGGGCCTGGAGCCCGGGCTGCCCTACCTCGCCTTCCTCTCCAGCTCCTCCTCCAGGGACTTCAGCCTTCTCTCCCTGTCTCGGAGTTCACGGGCGTAGCTGAAGTCATCATCCAGCTCCTCCTGCCTGGCCGCCTGGCGTCGCTATAAAACACATAGAGCCTGGCCTGTGAAATCAGAACTGACAGGCGTGACCCCGCAGGGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTG	AGTCAAGCACAGCCCTACCCCACACAAAGCCACAGCCCCTACCGCCCATGGCAGCCATGTGCACTGAACCAGACAAGGCTTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACAGGCACGCGCACCCCTCCACACACATCCCTCACTCGCTCCATAAAGAGATCTAAGGTTGGGACCTACAGCATCGCGTGGGGCTGAGCAGGAAGCGGCCAGCCCCTCCCGTGAGGGGCTCTCTCCAAAACCCCAAACAGCCCCTTGAAGGATCCAGCACTACTCAGCCTGGGACAGCCTGATGACAGCACAGGACAGGTTGATAACAGCACAGGGAGACAGACGCAGATGCTGTGCTGGACAAATGCCCTGTCTCAGCCGAGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACCCCGTCTGTACTAAAAATACAAAAAACTAGCTGGATGTGGTGGCGGATGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCCAAAAAAAAAAAAAAAAAAAAAAACGCCCTGTCTCTGTCAGACCAATAACAGACTTAAAAATAAATAAGGAAGGATGTTCAGAAAGAAGATAAATAAAGAGACAGGACCCCAAACAGTACGCAGGCCTCGCCTGGACCCTAATCCATACAAACCACCACAAGACAACGCGCAGAACAGCTAAGGATGCCTGGATAAGGCAGAACGCCCACAGCCACTCTGGGTTCAGCATATTGGTCTTTCTACCTTAATGTATGTTTGAAGGTTTTCAAAACAAAAAGTAAAATCATCAGTAAGATTAAGCCAGAGCTATGGGGCCCCTGCCGCACTGCACCCCTGGGCCTGGAGCCCGGGCTGCCCTACCTCGCCTTCCTCTCCAGCTCCTCCTCCAGGGACTTCAGCCTTCTCTCCGTCTCGGAGTTCACGGGCGTAGCTGAAGTCATCATCCAGCTCCTCCTGCCTGGCCGCCTGGCGTCGCTATAAAACACATAGAGCCTGGCCTGTGAAATCAGAACTGACAGGCGTGACCCCGCAGGGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTGNN	pathogenic	328,539
Variant at chromosome position 50224267, chromosome 22, gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	benign	TTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACAGGCACGCGCACCCCTCCACACACATCCCTCACTCGCTCCATAAAGAGATCTAAGGTTGGGACCTACAGCATCGCGTGGGGCTGAGCAGGAAGCGGCCAGCCCCTCCCGTGAGGGGCTCTCTCCAAAACCCCAAACAGCCCCTTGAAGGATCCAGCACTACTCAGCCTGGGACAGCCTGATGACAGCACAGGACAGGTTGATAACAGCACAGGGAGACAGACGCAGATGCTGTGCTGGACAAATGCCCTGTCTCAGCCGAGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACCCCGTCTGTACTAAAAATACAAAAAACTAGCTGGATGTGGTGGCGGATGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCCAAAAAAAAAAAAAAAAAAAAAAACGCCCTGTCTCTGTCAGACCAATAACAGACTTAAAAATAAATAAGGAAGGATGTTCAGAAAGAAGATAAATAAAGAGACAGGACCCCAAACAGTACGCAGGCCTCGCCTGGACCCTAATCCATACAAACCACCACAAGACAACGCGCAGAACAGCTAAGGATGCCTGGATAAGGCAGAACGCCCACAGCCACTCTGGGTTCAGCATATTGGTCTTTCTACCTTAATGTATGTTTGAAGGTTTTCAAAACAAAAAGTAAAATCATCAGTAAGATTAAGCCAGAGCTATGGGGCCCCTGCCGCACTGCACCCCTGGGCCTGGAGCCCGGGCTGCCCTACCTCGCCTTCCTCTCCAGCTCCTCCTCCAGGGACTTCAGCCTTCTCTCCCTGTCTCGGAGTTCACGGGCGTAGCTGAAGTCATCATCCAGCTCCTCCTGCCTGGCCGCCTGGCGTCGCTATAAAACACATAGAGCCTGGCCTGTGAAATCAGAACTGACAGGCGTGACCCCGCAGGGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTGAACCCAGGCCCACAGGCACGGACCCCTGCCCCGCAATCAGCTGCCACCTACCTCGGAAGCTGAGGTACTCGTGGTTCAC	TTGTGCTGGGCTCCAGTGGGACGCTGGGCCTGCAAAAAGTACTCCAAAACCACGAGCTCCTCACCACCTGTATCTGTGCAATTTGGTGGCACACGGGGAGAGAGAGTGCTCTGCCGCAAACGCGAAAGCCACCAGCCCTCTCCTAGAAGAGCATGTAGGTTTGTGTGCAGTCTCAGGGGGTTTCCAGACCCCCAAAGCCCAGGGGAAGAGCTGCCATCTGAAGCCGCAGACATACCTGAATGTGTTTCTCATCTTCTAAGAGAAAACGAAGCCGTGCACTCTCCAGTCGGTGCCTCTGGATTCTCCACAGTGCCTTCTGCTCCCGACGAGCTGCCTCTGCAGAGAGCTTGCTGTAGTGGTCGACCAGTGCCTGCCTGAAGCCACACACCAGAGAGGACACGGCCACAAGAGTCACCCCACCCCATCTACCTGGCACCCCTCAGGCCAGGATGGTTCTCCATAACAGAGGCCCCAGTGGGCCCCCGCCCCCGTCTCCCCCTACCAGGGGCTGATAGCTCTGGGCCCTCACAGCACCTACAGGGCAGCACCAGGCAGGCCCTTCTACCTGCCAGGCTGGGAGACCCTGGTGAGTCAGCGTCCAGCCAGGGCTCAGCAACATCTGCTGGACAAATACCAGAATGAGATCCTGTGTGGCCTGAAGCAAGGGGTGAGCAGGAGGCCGAGGGCCCCAGGCCTCTAAGAAGTTAGGCCTCTTCCCCTTCTACAGGTACAAACCTGAGAACTGAAAACTAATGCAAAAAAGCACATGAAGCAAAACCAACACAAACGCTTTATTTGCTGAATTCAAAGCCTGCTTCACCGATCGTGCCCCATGATTTTGAGCTTCTCACCAGCAGGCAACTGGGCTCAAACCTGGACTGGCCAGCTCTAATTTGGCTGCCACAGGCCAGAGACGTAGTGTCTAGGCCTGGTTTTCTCCATGTGTTAACAGGACAGTATCGACTGACATACATGCATGAACACGTACTCATGCATAAATGCATACACGGACACACGTGCACACAGGCACGCGCACCCCTCCACACACATCCCTCACTCGCTCCATAAAGAGATCTAAGGTTGGGACCTACAGCATCGCGTGGGGCTGAGCAGGAAGCGGCCAGCCCCTCCCGTGAGGGGCTCTCTCCAAAACCCCAAACAGCCCCTTGAAGGATCCAGCACTACTCAGCCTGGGACAGCCTGATGACAGCACAGGACAGGTTGATAACAGCACAGGGAGACAGACGCAGATGCTGTGCTGGACAAATGCCCTGTCTCAGCCGAGCGCGGTGGCTCGCGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTTAAACCCCGTCTGTACTAAAAATACAAAAAACTAGCTGGATGTGGTGGCGGATGCCTGTAACCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTACAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTTTCCAAAAAAAAAAAAAAAAAAAAAAACGCCCTGTCTCTGTCAGACCAATAACAGACTTAAAAATAAATAAGGAAGGATGTTCAGAAAGAAGATAAATAAAGAGACAGGACCCCAAACAGTACGCAGGCCTCGCCTGGACCCTAATCCATACAAACCACCACAAGACAACGCGCAGAACAGCTAAGGATGCCTGGATAAGGCAGAACGCCCACAGCCACTCTGGGTTCAGCATATTGGTCTTTCTACCTTAATGTATGTTTGAAGGTTTTCAAAACAAAAAGTAAAATCATCAGTAAGATTAAGCCAGAGCTATGGGGCCCCTGCCGCACTGCACCCCTGGGCCTGGAGCCCGGGCTGCCCTACCTCGCCTTCCTCTCCAGCTCCTCCTCCAGGGACTTCAGCCTTCTCTCCCTGTCTCGGAGTTCACGGGCGTAGCTGAAGTCATCATCCAGCTCCTCCTGCCTGGCCGCCTGGCGTCGCTATAAAACACAGAGCCTGGCCTGTGAAATCAGAACTGACAGGCGTGACCCCGCAGGGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTGAACCCAGGCCCACAGGCACGGACCCCTGCCCCGCAATCAGCTGCCACCTACCTCGGAAGCTGAGGTACTCGTGGTTCACNN	benign	328,542
Located at chromosome 22 position 50226363, the variant affecting gene TUBGCP6 (tubulin gamma complex component 6)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Microcephaly_and_chorioretinopathy_1']	GGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTGAACCCAGGCCCACAGGCACGGACCCCTGCCCCGCAATCAGCTGCCACCTACCTCGGAAGCTGAGGTACTCGTGGTTCACCTGAATCATGAACTCGCCATAAGCGTCTCTGAACACCCCGCTGTACACCCAGTCGTGGATGAACCTGCAGTGGGGGAAAAGCAGGGGTAGATGTGGTCAACGGAGAGGTGGGTGGGGCGTGGCTGTCAGTGAGGGGTGGGACAGGGGCGTGGCTGTCAGTGAGGGGCAAGTGGGGGCGTAGCTGTGAGAGGTGGAGTGGGGTGTGGCCATCCATGAGGGGCGGGATGGAGTGGGGGCAGGGTGGGGGGTGTGGAGTGGGGGCAGGGTGGGGGGTTGGGGGCTCCTGCCCAGTCCACCTATCCTGCCCTCCCCTTCCTGTGTGACCCCCACATTCAGCAGGTGTCTGACAAGGGACCGCTCTCAAGTGTCTGCCTGGTGGGAGTGCGCGCCCGCCGCGCCTGCCCAGCCCACTGCCCACCGGGTGTAGGGCTCGCAGCTGGTCTTCAGCAGGGACAGCAGTACAGGGTAGTGCTCGTTGCTGCAGTTGTGCAGAGCCTCCTGGTAGAGGTAGGACAGCAGCTTCACGCCCTGCAGACCGCAAAGGGGGTGGGGGGCAGCTCAGCGCACCCAGCGCTGGGAGTGAGGCGCAGCCCTGCCGGCAGCAGCCCTCCAGGGACACGCTCAGCCACCCCCGTTTCCTGGAGCCCACCAGGCTGACACACTCGGCAGGGACGCACAACTCACGGTGGGAAACGCGGCCCTGGGGCCTCCTCCACAGGTGCCCGGGAGCACAGCGCCAACGCCACAGAGCTCGGCCAGGTACCTAGACCCAGAGGCAGGATGAGACCAGGTGACCGGGCTCAGGGTTCCCAGGCCTGGATCAGATCGTGAGCAAAGTCTCCACGTATCTTTATGCTCCCTGGGGCAACTAACTTTAGATGCAGGCTTTAAAAACCACAGGCACCCCAACCACCCAGAAACGGGCTCCCTGCAGGACTCGTGTGCAGCCCTGTGCCCCTGCGCTGTCCACACACACCCCACTGAAGTACCCACACCCAGCAGGCCCTCCCTCCCAGGATCTGGCCAACACACGAATCACCCTGATCCTCCCACTTCTGGGGGCTGCACCTGAGAGCCCCTCCCATCCACACAGTGGTACCAAGCATCTGCCACAACTCGCACCCTTCACAGCCCAGCTCCCCTGCCCCACAGTGTCTCAGCCCTTGGGTCTCCTCAGCGCTGCCACACTCTGCTCCTCAGCCTGGAAGGTCGCCTCTCCCACTGCTCCCAATGCCCAGCTCCTCACTCTTCCTTCTCTGATGGCACCTGCCAATAGCCCCCGAGCCTGGTTGCTCACTAACCAGCTTGTGTGTACCGGACGCCACATCTCCAGGGACCCTGTGTGCCAATTAGGCAGGAGCCACCGGACCTGGAGGGCCTGGATGGGGCCAGCTGTGGTGGGCCCACGGCAGACACACCCGCTCAGCACCGGGCACCTGGTGAACTCGGCCGGCCAAGGGCCATCCGGTCGCCTGCTGAGGGCTGTTCTCACAGGCCCTCCTTGCCAGGGAGCAGGGCAAACCCTCCACCACCCAGCAAGCCCCACACCGCTCCCGCAAAGTCCCCTGCTCAGCCGCCATGCTGAGGCTCACCTGAGCTGCCGGCCAAGTTTCTTGAAGAGAAAACCAATGGTGAGGAGGCTCAGGGTGGGCGGAGTGGAAAGGACGCAGGCCCGGTAATACTGCAGGTACCTCCTCAGGCCACTGGTGAAGGCCTGTGGGCAAAGAGGCTGGGAGGAGGGCGGCCAGGCACATGGACGCAGCCGTGCCCAGGGCCTGAGGGGCACCAGTGCTGGGAACAGCGCTTTGTTTCTTGCCTCAGCTCTGGGCTCCATTTCCAAGCAATGGGCCTCTGTGAGCCACACCCCGCCACCGGGCCAGGTGGAAATGCGGCCCATCCACAAGAAGCCAGAAGCTGTGGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCATGGCAAAGGGGCTGGGGGGGAAATGGCGGCCG	GGACAGGTCCTACCCACCTCCTGGTCCTTCACAAATTGTTCTTTCAGCCTCTGAAACTGCTCACGCTTCCGGGCATCCAAGGCCATCCGTTCTGACATCTGCCGGTCTACATTGGGACAGTAAGGGGCGCACTGTCACAAGGAGGCCCCAGCAAGGCCCCCCGGAACTGCAGAAGGGAGGACTTGGGGCCACTCACCACTCAGTGCACTCAGGACCCTGGATGCTGCTTCCCGGGCATGAGCGATTAATTCTTGTTTTGCAATTTCCATACGTAATTCCTGAGAAAGACAACTGGTAATCAAAGCATCCTGGCCGGGCGCAGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCCGAGGTGGGTAGATCACATGAGCTTAAGAGTTCAAGACCAGCCTGGACAACATAGCAAAAACCCATCCCTACTAAAAATACAAAAATTAGCCAGGTGTAGTGGCAGGTGCCTGTAGTATCAACTATTTGGCGGGGGTCAGGGGAGCTTAGGCAGGAGGATCCCTTGAGCCTGGGAGGTGGAGGCTGCAGTGAGCCATGTTCGAGCCGCTGCACTCCAGCCTCCTGGCTGACACAGTGAGACCCTGTCTCAAAGAAAAAAAAAGCAACCTAATCCTCTGACCCCTCACCTAGGATGCCCAGGACACCTGTGGACTCAGGGCCGGCAGGGGAGACACATGGTCCAAGGGTTCGAGGAGGGACCAGGTGATGGCAGGACACCGCCCCCCCGCCCACCCTCCCCCACCCCCAGGCTCTCAGCAGTGGCAAGGCTGGTTCCAGGCCATGGACGGGAGCTGACCGGCTCTCACAGAGACATCTGGGGCTGAGGACCCCAAGGCTGTGTGTGCCCACCCTGGAAGGAAACCAAGAGGCCTCAAGAGGGGGCTTCCCCGCTCAGCCTCTTAGGCCTGCCCCTGCCCAAGTATCCCTGCTGCCCACCAGGCACCAGGCCAGAAAGGGTGTTCCTGGGAATGGCACTGATTGTACCACCGAGCCCCTCCCAGAAGACACAGGAGAGGCGTGGCCCGTCCCTGACACACTGTCCCTTCCCAGCAGGAAGGGGGCTTGCAAAGGGCGAAGGCCATCTGGAGTGCAGCCAGGACTGTCTGTCCACAGCTGGCGGGCCCGGGGAGGCCCCAACGGAGTTTCCCACGCCAGCAAAGCCTGGGCTTCAGGCTGAGCCACCCAGACCCAGGAGGAGAAGTCAGAGCCCCTGCCTGGCATCTGGCTCCGGACATTCATCTCAGCTCCCCCTTGGCACCCACCCTTCATCTCAACTCCCCGTTGACACCCACCCTTCATCTCAACTCCCCCTTGGCACCCACCCAGGCCACCGCCAGGACAGAAAATGCCAGAAGGGAGGCCCCCATCTTGCACAGCCCTCATGTCCGCCCCACCAACCTGAGACCCCAGGAAGCAGAGGCAGGGGCGAAGAAAGCCCCCGAGACCTGTGGTGCCACGCACCTTCTCCTCCTTGCTGACAGAGCTGTGGCGGGCCACCCTCTCCATGCGCCCAACGTAGACGGCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTGAACCCAGGCCCACAGGCACGGACCCCTGCCCCGCAATCAGCTGCCACCTACCTCGGAAGCTGAGGTACTCGTGGTTCACCTGAATCATGAACTCGCCATAAGCGTCTCTGAACACCCCGCTGTACACCGTCGTGGATGAACCTGCAGTGGGGGAAAAGCAGGGGTAGATGTGGTCAACGGAGAGGTGGGTGGGGCGTGGCTGTCAGTGAGGGGTGGGACAGGGGCGTGGCTGTCAGTGAGGGGCAAGTGGGGGCGTAGCTGTGAGAGGTGGAGTGGGGTGTGGCCATCCATGAGGGGCGGGATGGAGTGGGGGCAGGGTGGGGGGTGTGGAGTGGGGGCAGGGTGGGGGGTTGGGGGCTCCTGCCCAGTCCACCTATCCTGCCCTCCCCTTCCTGTGTGACCCCCACATTCAGCAGGTGTCTGACAAGGGACCGCTCTCAAGTGTCTGCCTGGTGGGAGTGCGCGCCCGCCGCGCCTGCCCAGCCCACTGCCCACCGGGTGTAGGGCTCGCAGCTGGTCTTCAGCAGGGACAGCAGTACAGGGTAGTGCTCGTTGCTGCAGTTGTGCAGAGCCTCCTGGTAGAGGTAGGACAGCAGCTTCACGCCCTGCAGACCGCAAAGGGGGTGGGGGGCAGCTCAGCGCACCCAGCGCTGGGAGTGAGGCGCAGCCCTGCCGGCAGCAGCCCTCCAGGGACACGCTCAGCCACCCCCGTTTCCTGGAGCCCACCAGGCTGACACACTCGGCAGGGACGCACAACTCACGGTGGGAAACGCGGCCCTGGGGCCTCCTCCACAGGTGCCCGGGAGCACAGCGCCAACGCCACAGAGCTCGGCCAGGTACCTAGACCCAGAGGCAGGATGAGACCAGGTGACCGGGCTCAGGGTTCCCAGGCCTGGATCAGATCGTGAGCAAAGTCTCCACGTATCTTTATGCTCCCTGGGGCAACTAACTTTAGATGCAGGCTTTAAAAACCACAGGCACCCCAACCACCCAGAAACGGGCTCCCTGCAGGACTCGTGTGCAGCCCTGTGCCCCTGCGCTGTCCACACACACCCCACTGAAGTACCCACACCCAGCAGGCCCTCCCTCCCAGGATCTGGCCAACACACGAATCACCCTGATCCTCCCACTTCTGGGGGCTGCACCTGAGAGCCCCTCCCATCCACACAGTGGTACCAAGCATCTGCCACAACTCGCACCCTTCACAGCCCAGCTCCCCTGCCCCACAGTGTCTCAGCCCTTGGGTCTCCTCAGCGCTGCCACACTCTGCTCCTCAGCCTGGAAGGTCGCCTCTCCCACTGCTCCCAATGCCCAGCTCCTCACTCTTCCTTCTCTGATGGCACCTGCCAATAGCCCCCGAGCCTGGTTGCTCACTAACCAGCTTGTGTGTACCGGACGCCACATCTCCAGGGACCCTGTGTGCCAATTAGGCAGGAGCCACCGGACCTGGAGGGCCTGGATGGGGCCAGCTGTGGTGGGCCCACGGCAGACACACCCGCTCAGCACCGGGCACCTGGTGAACTCGGCCGGCCAAGGGCCATCCGGTCGCCTGCTGAGGGCTGTTCTCACAGGCCCTCCTTGCCAGGGAGCAGGGCAAACCCTCCACCACCCAGCAAGCCCCACACCGCTCCCGCAAAGTCCCCTGCTCAGCCGCCATGCTGAGGCTCACCTGAGCTGCCGGCCAAGTTTCTTGAAGAGAAAACCAATGGTGAGGAGGCTCAGGGTGGGCGGAGTGGAAAGGACGCAGGCCCGGTAATACTGCAGGTACCTCCTCAGGCCACTGGTGAAGGCCTGTGGGCAAAGAGGCTGGGAGGAGGGCGGCCAGGCACATGGACGCAGCCGTGCCCAGGGCCTGAGGGGCACCAGTGCTGGGAACAGCGCTTTGTTTCTTGCCTCAGCTCTGGGCTCCATTTCCAAGCAATGGGCCTCTGTGAGCCACACCCCGCCACCGGGCCAGGTGGAAATGCGGCCCATCCACAAGAAGCCAGAAGCTGTGGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCATGGCAAAGGGGCTGGGGGGGAAATGGCGGCCGNN	pathogenic	328,551
For chromosome 22, position 50227903, gene TUBGCP6 (tubulin gamma complex component 6): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic	GCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTGAACCCAGGCCCACAGGCACGGACCCCTGCCCCGCAATCAGCTGCCACCTACCTCGGAAGCTGAGGTACTCGTGGTTCACCTGAATCATGAACTCGCCATAAGCGTCTCTGAACACCCCGCTGTACACCCAGTCGTGGATGAACCTGCAGTGGGGGAAAAGCAGGGGTAGATGTGGTCAACGGAGAGGTGGGTGGGGCGTGGCTGTCAGTGAGGGGTGGGACAGGGGCGTGGCTGTCAGTGAGGGGCAAGTGGGGGCGTAGCTGTGAGAGGTGGAGTGGGGTGTGGCCATCCATGAGGGGCGGGATGGAGTGGGGGCAGGGTGGGGGGTGTGGAGTGGGGGCAGGGTGGGGGGTTGGGGGCTCCTGCCCAGTCCACCTATCCTGCCCTCCCCTTCCTGTGTGACCCCCACATTCAGCAGGTGTCTGACAAGGGACCGCTCTCAAGTGTCTGCCTGGTGGGAGTGCGCGCCCGCCGCGCCTGCCCAGCCCACTGCCCACCGGGTGTAGGGCTCGCAGCTGGTCTTCAGCAGGGACAGCAGTACAGGGTAGTGCTCGTTGCTGCAGTTGTGCAGAGCCTCCTGGTAGAGGTAGGACAGCAGCTTCACGCCCTGCAGACCGCAAAGGGGGTGGGGGGCAGCTCAGCGCACCCAGCGCTGGGAGTGAGGCGCAGCCCTGCCGGCAGCAGCCCTCCAGGGACACGCTCAGCCACCCCCGTTTCCTGGAGCCCACCAGGCTGACACACTCGGCAGGGACGCACAACTCACGGTGGGAAACGCGGCCCTGGGGCCTCCTCCACAGGTGCCCGGGAGCACAGCGCCAACGCCACAGAGCTCGGCCAGGTACCTAGACCCAGAGGCAGGATGAGACCAGGTGACCGGGCTCAGGGTTCCCAGGCCTGGATCAGATCGTGAGCAAAGTCTCCACGTATCTTTATGCTCCCTGGGGCAACTAACTTTAGATGCAGGCTTTAAAAACCACAGGCACCCCAACCACCCAGAAACGGGCTCCCTGCAGGACTCGTGTGCAGCCCTGTGCCCCTGCGCTGTCCACACACACCCCACTGAAGTACCCACACCCAGCAGGCCCTCCCTCCCAGGATCTGGCCAACACACGAATCACCCTGATCCTCCCACTTCTGGGGGCTGCACCTGAGAGCCCCTCCCATCCACACAGTGGTACCAAGCATCTGCCACAACTCGCACCCTTCACAGCCCAGCTCCCCTGCCCCACAGTGTCTCAGCCCTTGGGTCTCCTCAGCGCTGCCACACTCTGCTCCTCAGCCTGGAAGGTCGCCTCTCCCACTGCTCCCAATGCCCAGCTCCTCACTCTTCCTTCTCTGATGGCACCTGCCAATAGCCCCCGAGCCTGGTTGCTCACTAACCAGCTTGTGTGTACCGGACGCCACATCTCCAGGGACCCTGTGTGCCAATTAGGCAGGAGCCACCGGACCTGGAGGGCCTGGATGGGGCCAGCTGTGGTGGGCCCACGGCAGACACACCCGCTCAGCACCGGGCACCTGGTGAACTCGGCCGGCCAAGGGCCATCCGGTCGCCTGCTGAGGGCTGTTCTCACAGGCCCTCCTTGCCAGGGAGCAGGGCAAACCCTCCACCACCCAGCAAGCCCCACACCGCTCCCGCAAAGTCCCCTGCTCAGCCGCCATGCTGAGGCTCACCTGAGCTGCCGGCCAAGTTTCTTGAAGAGAAAACCAATGGTGAGGAGGCTCAGGGTGGGCGGAGTGGAAAGGACGCAGGCCCGGTAATACTGCAGGTACCTCCTCAGGCCACTGGTGAAGGCCTGTGGGCAAAGAGGCTGGGAGGAGGGCGGCCAGGCACATGGACGCAGCCGTGCCCAGGGCCTGAGGGGCACCAGTGCTGGGAACAGCGCTTTGTTTCTTGCCTCAGCTCTGGGCTCCATTTCCAAGCAATGGGCCTCTGTGAGCCACACCCCGCCACCGGGCCAGGTGGAAATGCGGCCCATCCACAAGAAGCCAGAAGCTGTGGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCATGGCAAAGGGGCTGGGGGGGAAATGGCGGCCGTGCTCTGTGCACAGACACTAGTGCTGTGAGGGCTGCAGCTGCTCCGACCACAGCTGTCTCAGTGGCACCAGCATCCTGGGCAACGCCACAGCAGCAGGCCCTGCAGGTCACACTAAGACAGGGGCACCCTGGACCAATCTCAGTCCACCCACCCCAGGAGCCGCCTGGCTATGCCTGCCAGATGAACAAGAACCACAGTCCAGCCCTTCTCAGCGTCCCCTGCTCTGACCCCTTCTCCACCATCTCTAGCTCTCAAGTCCCCCGGGGCTGAGCCTCTGCCTAGAAGCTCTCCCCGCCCCGTGCAGCTCCCACCATGCCCACCTCCACAGCCCATCTAAAACCTACACCTCACCACATCACCCCACCCGACAGCCCCTGCTGCAGCAGCAACAGTCAAAGGAGGCTGCGCTGCCTGGCTCCTCCAGGGCTCTCTGCCCACCTTCCCCAACACCCTCCTCTCAATCCCCCAAACCCAAATGCCCCATCATCCACCTGCCTATTCTCTCCCACTCAAGGTGCAGCCCCTGTCCCATGGGCCTCTTCCCAGCACATGAGCCAGCTTCAAGACTCACCAAACAGCAGCTTCCGGAGCCAGACTTGGCTCAGAACTCCCAGCAATGTAAATTCACCCAACAGGAGGGCCCTGCGCTGTCAGTCATCCACAATGTGCCGGGCCCACTGGGGAGCAGGCAGCAAGAGCCCCACTCACGCCTTTCCTGCCCTGCGCACCCCTTATGCTGGCTGCACCTGCCTCCTACACACCCCAGGGCCCACACAGCCCAGGGCCCACACACATCTGCCCCAAGTTTCTAGTGAGGTAAAACATCCTCACTGACCCATCCCTCAAGAGCCACTATCGGGTTTCAGATGTTAGCAAGGAAAGAAAAGGTTTAGACTCTCTGGTCCTGCAGAAGGACCTCTGAGATTCTCTCTTCCAGGTCGTGTGCACCGTTCTCACAAAGGTGTGTGACAACCATGAGGCAAAGGCCATACCTGGAACACGAGGCCCTTGCTGTACAAAGAGTCCAGGACGGGCTGCAGAGAGAAATGACTCAGGCGCGTGTAGCAGGTCCCATACTCGGCCACTTCCGAGAGCAGGCTGCTGATGCTCTCGGGAGACGCTCCTGACACGTGGACGCCCCGCTTCACCACAAAGGCCTGGGCCGGCTGCACAGGGGCAGAGGACACTGGTCACAGAGGCCAGGCACCCAGACCCCCAGTAAGGTGCCGTCTCCCTCCACCCTTGCACCCAACCCCACGCCACCTAGAGTGCCTCCAGGACCCAAAAGCAAATGCCCAGAAGGCATACCCAGAACTCCCACACCGAGGGACCAAACCGAGGCACAAATCCTCACTGACCACACTGAAAAATACATGTTTAAAATGCCAAGTGTAGAAAAGGGTAGAAAAAAACAGAACACCTTCCACAGGACACAAGTACACAGACAGCCTCCTGGGGCAGAAGCTATAAAACATGACGGCCGTGAGACCCGCTCATTTGACTCTTCGGGATGAATTAGAGAAATGATGGAAGATGCAC	GCACAGTCCTTCTCAATCTCCTTCAACTCCTCAAGGGAGAAAATCACCGAGATCCGGGGGACAGGGACGTCGGACCAACAGAGGTAATGCTGCCAAAGGGGATGCAAGCACAGCCACCAGCACTCAGCCCCAGCCTCATACTCAGCCCCAGGGAAGACCGGCCCCTCTCTTCCCCACACATGAGCCCCTCCTCACCCGGGGGCAGCAGAGCTTCAGCAGGTTAATGGTCTTTCCGCAGACGTATATGTCGTGGGCAATGTGCTTCAGAAACACGGGAACACAGTCCTCCACCTCTTTGGAGATGAGCACGTAGCCATGTGTCCAGTACAACTTATCTAAGGTAGGGTGAACACCACGGTGGCCGGCATGGCCATGGCCCTGAACCCAGGCCCACAGGCACGGACCCCTGCCCCGCAATCAGCTGCCACCTACCTCGGAAGCTGAGGTACTCGTGGTTCACCTGAATCATGAACTCGCCATAAGCGTCTCTGAACACCCCGCTGTACACCCAGTCGTGGATGAACCTGCAGTGGGGGAAAAGCAGGGGTAGATGTGGTCAACGGAGAGGTGGGTGGGGCGTGGCTGTCAGTGAGGGGTGGGACAGGGGCGTGGCTGTCAGTGAGGGGCAAGTGGGGGCGTAGCTGTGAGAGGTGGAGTGGGGTGTGGCCATCCATGAGGGGCGGGATGGAGTGGGGGCAGGGTGGGGGGTGTGGAGTGGGGGCAGGGTGGGGGGTTGGGGGCTCCTGCCCAGTCCACCTATCCTGCCCTCCCCTTCCTGTGTGACCCCCACATTCAGCAGGTGTCTGACAAGGGACCGCTCTCAAGTGTCTGCCTGGTGGGAGTGCGCGCCCGCCGCGCCTGCCCAGCCCACTGCCCACCGGGTGTAGGGCTCGCAGCTGGTCTTCAGCAGGGACAGCAGTACAGGGTAGTGCTCGTTGCTGCAGTTGTGCAGAGCCTCCTGGTAGAGGTAGGACAGCAGCTTCACGCCCTGCAGACCGCAAAGGGGGTGGGGGGCAGCTCAGCGCACCCAGCGCTGGGAGTGAGGCGCAGCCCTGCCGGCAGCAGCCCTCCAGGGACACGCTCAGCCACCCCCGTTTCCTGGAGCCCACCAGGCTGACACACTCGGCAGGGACGCACAACTCACGGTGGGAAACGCGGCCCTGGGGCCTCCTCCACAGGTGCCCGGGAGCACAGCGCCAACGCCACAGAGCTCGGCCAGGTACCTAGACCCAGAGGCAGGATGAGACCAGGTGACCGGGCTCAGGGTTCCCAGGCCTGGATCAGATCGTGAGCAAAGTCTCCACGTATCTTTATGCTCCCTGGGGCAACTAACTTTAGATGCAGGCTTTAAAAACCACAGGCACCCCAACCACCCAGAAACGGGCTCCCTGCAGGACTCGTGTGCAGCCCTGTGCCCCTGCGCTGTCCACACACACCCCACTGAAGTACCCACACCCAGCAGGCCCTCCCTCCCAGGATCTGGCCAACACACGAATCACCCTGATCCTCCCACTTCTGGGGGCTGCACCTGAGAGCCCCTCCCATCCACACAGTGGTACCAAGCATCTGCCACAACTCGCACCCTTCACAGCCCAGCTCCCCTGCCCCACAGTGTCTCAGCCCTTGGGTCTCCTCAGCGCTGCCACACTCTGCTCCTCAGCCTGGAAGGTCGCCTCTCCCACTGCTCCCAATGCCCAGCTCCTCACTCTTCCTTCTCTGATGGCACCTGCCAATAGCCCCCGAGCCTGGTTGCTCACTAACCAGCTTGTGTGTACCGGACGCCACATCTCCAGGGACCCTGTGTGCCAATTAGGCAGGAGCCACCGGACCTGGAGGGCCTGGATGGGGCCAGCTGTGGTGGGCCCACGGCAGACACACCCGCTCAGCACCGGGCACCTGGTGAACTCGGCCGGCCAAGGGCCATCCGGTCGCCTGCTGAGGGCTGTTCTCACAGGCCCTCCTTGCCAGGGAGCAGGGCAAACCCTCCACCACCCAGCAAGCCCCACACCGCTCCCGCAAAGTCCCCTGCTCAGCCGCCATGCTGAGGCTCCTGAGCTGCCGGCCAAGTTTCTTGAAGAGAAAACCAATGGTGAGGAGGCTCAGGGTGGGCGGAGTGGAAAGGACGCAGGCCCGGTAATACTGCAGGTACCTCCTCAGGCCACTGGTGAAGGCCTGTGGGCAAAGAGGCTGGGAGGAGGGCGGCCAGGCACATGGACGCAGCCGTGCCCAGGGCCTGAGGGGCACCAGTGCTGGGAACAGCGCTTTGTTTCTTGCCTCAGCTCTGGGCTCCATTTCCAAGCAATGGGCCTCTGTGAGCCACACCCCGCCACCGGGCCAGGTGGAAATGCGGCCCATCCACAAGAAGCCAGAAGCTGTGGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCGCCCACCACCAACCCTTCCTCTCATCTGAGCCCAGCTGCCCCAGGGGCATGGCAAAGGGGCTGGGGGGGAAATGGCGGCCGTGCTCTGTGCACAGACACTAGTGCTGTGAGGGCTGCAGCTGCTCCGACCACAGCTGTCTCAGTGGCACCAGCATCCTGGGCAACGCCACAGCAGCAGGCCCTGCAGGTCACACTAAGACAGGGGCACCCTGGACCAATCTCAGTCCACCCACCCCAGGAGCCGCCTGGCTATGCCTGCCAGATGAACAAGAACCACAGTCCAGCCCTTCTCAGCGTCCCCTGCTCTGACCCCTTCTCCACCATCTCTAGCTCTCAAGTCCCCCGGGGCTGAGCCTCTGCCTAGAAGCTCTCCCCGCCCCGTGCAGCTCCCACCATGCCCACCTCCACAGCCCATCTAAAACCTACACCTCACCACATCACCCCACCCGACAGCCCCTGCTGCAGCAGCAACAGTCAAAGGAGGCTGCGCTGCCTGGCTCCTCCAGGGCTCTCTGCCCACCTTCCCCAACACCCTCCTCTCAATCCCCCAAACCCAAATGCCCCATCATCCACCTGCCTATTCTCTCCCACTCAAGGTGCAGCCCCTGTCCCATGGGCCTCTTCCCAGCACATGAGCCAGCTTCAAGACTCACCAAACAGCAGCTTCCGGAGCCAGACTTGGCTCAGAACTCCCAGCAATGTAAATTCACCCAACAGGAGGGCCCTGCGCTGTCAGTCATCCACAATGTGCCGGGCCCACTGGGGAGCAGGCAGCAAGAGCCCCACTCACGCCTTTCCTGCCCTGCGCACCCCTTATGCTGGCTGCACCTGCCTCCTACACACCCCAGGGCCCACACAGCCCAGGGCCCACACACATCTGCCCCAAGTTTCTAGTGAGGTAAAACATCCTCACTGACCCATCCCTCAAGAGCCACTATCGGGTTTCAGATGTTAGCAAGGAAAGAAAAGGTTTAGACTCTCTGGTCCTGCAGAAGGACCTCTGAGATTCTCTCTTCCAGGTCGTGTGCACCGTTCTCACAAAGGTGTGTGACAACCATGAGGCAAAGGCCATACCTGGAACACGAGGCCCTTGCTGTACAAAGAGTCCAGGACGGGCTGCAGAGAGAAATGACTCAGGCGCGTGTAGCAGGTCCCATACTCGGCCACTTCCGAGAGCAGGCTGCTGATGCTCTCGGGAGACGCTCCTGACACGTGGACGCCCCGCTTCACCACAAAGGCCTGGGCCGGCTGCACAGGGGCAGAGGACACTGGTCACAGAGGCCAGGCACCCAGACCCCCAGTAAGGTGCCGTCTCCCTCCACCCTTGCACCCAACCCCACGCCACCTAGAGTGCCTCCAGGACCCAAAAGCAAATGCCCAGAAGGCATACCCAGAACTCCCACACCGAGGGACCAAACCGAGGCACAAATCCTCACTGACCACACTGAAAAATACATGTTTAAAATGCCAAGTGTAGAAAAGGGTAGAAAAAAACAGAACACCTTCCACAGGACACAAGTACACAGACAGCCTCCTGGGGCAGAAGCTATAAAACATGACGGCCGTGAGACCCGCTCATTTGACTCTTCGGGATGAATTAGAGAAATGATGGAAGATGCACNN	pathogenic	328,561
A mutation at chromosome position 50447308 on chromosome 22 in gene SBF1 (SET binding factor 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	benign	CTGACATTTTTCCGTTTGGGGGATGGGGGGAACCACTTCGCCTAACGCTCAAACACATCAACCCCAGGACTTCCTTTTGTGCCAGCTCCCCCTCCCAGAAGCCTGGGCCCCACCTTGTCCTCAGTGGCTGAGTGGGAGGGGCAGGTGGAGACCAGACCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGGAACAGGGAGGGCAGGGTCCTTTCTCCCCTTACTCTGACCTGTGGGTTTTCCAGGTGCCAGGAACTTCGGTCAGGCGCCATCTGTCCGGCCTGAGGGAAGACCTGGCTGGTTTCAGTGGCTCAAGTGAGCCCACCCTCACATCTCGCCCAGGTGTCCCAACACCACCTGTGGGGTGGGGGAGGTGGCGGGACCATGCTGGGCCTGACAGGGTCCAAGGCCATCCTTGGCTTCAACGTCCCACCAGGGGAGGGTCTTGGCCCCCCACCTGCCAGCACTGGGCCCTGCCTCTGCAGCTGTCATCAGAACCTTCCCCTCACCCACACCTGCTGCTCGCCTCCCACCTGAGAGGACCACCTGAGGGACCCAGCCTCTAGCCAGGTTCTCTGCCCCTCACCAGCCCCTCTGGCCAGGTCACCAGCTGCCACTCTCAGATGTTCTCTTGGCCTTTGCAGCGTCTATAACCCTCCCCACCTTCTGCTCCTGCACCCCTGGCCAGGCCTCGTCACAGGCAAGGACACAACAGCTCAGCAGGTGAAGCCCTGGGCCTGGTGGGACTCAGGTTTGAATAGGAAAAGAGCAGTGAGGGGCCACAGTGACACCAAGAAGGGAAGGACGGGGGCCCTCTGAGACCCCAGGGAAAGGACTTTTGGGGCAGAATTCCCAAGAACTGAGAGGGTCCATCCCCCATGGGCGTTGGCCCCTTACTCTGCCAGATGCTGCTCGTTGCCTGGCAGGAGCCAGATGTGGTCAACCTGCATTCCCCTGGGAGCCCACTGTCCCCCCCCCCCCCCCGCCTCCGGCCTCCATCCCTTCAGCTCGGGTCTAGCCAGAAACTGACGTCCACCTCAAGTGTCCTCTGGACCTGCAACAGCCTTCTGGGGTCAAATGACCACCCACCCTTTCACCCCCAAGCCTCTGTGAGGTCAGCTTCTGCATCCCCTGGGTAGGGATGGGGGCTTCCTCTCCAGCCGTGCCGGCCCCTAGACCAGCCCTGAGGCGTGGAGGGAATCAAGCAAGTCCCCAGTGAAGCCTCCTGCTCGATCCGCCCCCAGAGCAAAGTCACTCCCAGGGACATGCAGGCCGAGCTGGGTGGACCCAGGCACCAGGAGAGGCTCACGAGAAAGATGCCAACCTCCCGCCAGGTGGGCCTGGATAGGGGCAGATGGGACCCTCTGGGTAGGCCGAGAGCAGGCAGCCGGGGAGTGGGGAAGGCAGGCACAGGAGCGTGGCGTTAGTTCTCTCTTTATATAGACTCTGGTTCTAGAAACTCGCCTGCAGCCGCTGGCTGGACCAGCACACGCTGACGGGGCCGGACTATTTACAGGCCCATTGCGGGCTGTACCTTGGCCACCTCCCGGCACGGTGCTCAGCTGTGACGCCAAAATAAGTTAGGGCCGGCCGGGCGGGGCGGGGCGGGGACGGGGGCTGTACACACAAGTGCTGGGGGCTCGGGGCCTCAATACTGTCGAGGGCCGGGGCTGTAAACATGGCCGGGGCGGCCCTGCCCACCCCTAGTGGTCGGTAACGACCGGAAGCAGAGCAGCCGGGCAGGGCTGGGAGGCTCAGGCGTCCGACAGGCAGCTCTGGATCCGGTCCACCCACTGCTGGGCCGAGGGCACGTCCTGGGCACAGAAGTTGTAAACGCGACGCGTTGTCTTCACCTGGGGAAGGGCGGGTTACTGACTCCGCAGCCCCCACACCGCAGAGCCCCTCCCCTCTCCCAAGCCCCGGCCAAGGCTCACGTCAAAGAAGGCCTTCTCGTCCACAGTCTTAGGGGCACCCATAGTGGGCGTGCCAGGTGCCACAGCCTCCACCTCCGCCAAGTCGATGACACCCTTGCACTCTGTGTCCACACGGTGGTCGTAGTAGCGCAGCTGGAGGAGGCCACAGAGTCAGCGGAGCCCCCTCCCCCGTGAGTCCCCCCCACCACCTGATCACTCACCTGGTGCTTGGTCTTGTCCAGCACGAACCAGCGGGCCTTCCAAGGCTTCATGAAGGCCCCCTTCTTGTACAGAGTGCCCTCGTAGGACCTGCATTTCCAGCAGAACCAGGGCCAGGCTGACCGTCATGGCCCAGCCAAGCCCAGGCCCCAGCAGTCGTCCCCCCCTTGCTGTCCCAGCCCAGGAGGTAAGACCAGGCACCCTGTCCCCAGAACTGACCTAAGCCCAGAGCACTGGCCAGGGGGCCACAAAGAAGCCTTTGATGGGGGGCTGCAGGCCCAAGAAGACGACGCCCAGAAAGGAGACAGTGAAGGGCGCCTCACACCCTCCAGACTCCAGGGAGCATCCCCACACCAGAGCCTCAGGGTCTTGGGAAAGCAGCCCCCTACACAGGGCAGGCGCCCTTACGAGGAGAGGGATGGCCAGGCAGGTAGATCTGTAGAAGCAGCCACGGCAGCAGCTGCCTGGGATGGATCCTGCCAGACTCCAGACTCACGGGGGCCCCACCACTGCCCTCTCTCTACTCCTCCCTCAGCCACTGCAGGCTGTGGTCAGCTGTGGTCACCAGTTCGACACCCCAAACCCCTCCCAGTGGTGGTGTATACTTAAGCAAGCTCCTCAAAAGCACCCGCAATCTCCCACCAGAGGACTGCCTGGGACCCCAGAACACCAGCTCAGAGGTGTCCATGTGGCAGTGGGAGGTGCCCTCATACCTGTTCTCACTCTCTGCTGTCTGGAACTGGCTGTACAGGGTGCTGGTGCTGCGGCGGGCAGCCTGACGGGAGCCGGATGTGGTTGAGCCACTACTCTGGTCGCTGTCCAGGCTGAGGCTCAGGGTGGAGCCCACGGGCCCCTCCTGCAGGTACACACCCAGCGAGCGACGGTGGTGGGGTGCGGTGGACACAAGGAGGGAGCTAGGGGTGCCCTGGGAACAGGAGGTTGGGACTTGGGTCAGGGCTGGACAGACTCCACTTTCTCCCAGCAACACGCCCACCGTGGACGCTCACACTGGCCCTCACTCACACGGCCGTCTGGCCGGCCCTCGAGGCGCTGTGCAGCCTTCACCCGGTCCCAGGTGTCCTTCCAGCGCTCAGCGGGTTGGCCCAACTCTGTCTCCAGCCTCTGCAGCTCCTGGGGGAAGAATTAATGGCAAGTTTATTCAAAAGGAAATATCCAGACTAGAGCACGAAAAGACAAAAGGAAAACACAGGAAAGAGACACAACGGAAAGGCCTAACGCGTGTGTGACTGGCCACAGGGGGAGGTGGCAAGAGGGAGGGAAGGAATATGCAAAATGAATATTCGGAGACAACAGTTGAAAAATTTCCCAAACTAACCAGAGGCATCAAACAACATAATCAAGAAGCACTACAGACCCCAACAGGGTAAGTTAAAAACACACACCCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACAAACATGGAGAAACCGCATCTCTACTAAAAATACAAAAAGTTAGCCCAGCATGGTGGCGCACGCCTGTAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGAACGCGCCACTGCACACCAGCATGGGCAACAAGAGCAAAACTGCTTCTCAAAAAAAAAAAAGACCACACAATACTGATCTTCAACACTGCAGGGTCCACAATGTCCAGCTTACAATAAAAGAACAGCAGAAAAATGGAGAAAAACATTAAAATAGACCCTGAAATGAAACAGGAGTTAGAACATACAGTAAATTCAAGAGAGTGATTTTAGGGCCAGGCGCGGTGGCTCACG	CTGACATTTTTCCGTTTGGGGGATGGGGGGAACCACTTCGCCTAACGCTCAAACACATCAACCCCAGGACTTCCTTTTGTGCCAGCTCCCCCTCCCAGAAGCCTGGGCCCCACCTTGTCCTCAGTGGCTGAGTGGGAGGGGCAGGTGGAGACCAGACCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGGAACAGGGAGGGCAGGGTCCTTTCTCCCCTTACTCTGACCTGTGGGTTTTCCAGGTGCCAGGAACTTCGGTCAGGCGCCATCTGTCCGGCCTGAGGGAAGACCTGGCTGGTTTCAGTGGCTCAAGTGAGCCCACCCTCACATCTCGCCCAGGTGTCCCAACACCACCTGTGGGGTGGGGGAGGTGGCGGGACCATGCTGGGCCTGACAGGGTCCAAGGCCATCCTTGGCTTCAACGTCCCACCAGGGGAGGGTCTTGGCCCCCCACCTGCCAGCACTGGGCCCTGCCTCTGCAGCTGTCATCAGAACCTTCCCCTCACCCACACCTGCTGCTCGCCTCCCACCTGAGAGGACCACCTGAGGGACCCAGCCTCTAGCCAGGTTCTCTGCCCCTCACCAGCCCCTCTGGCCAGGTCACCAGCTGCCACTCTCAGATGTTCTCTTGGCCTTTGCAGCGTCTATAACCCTCCCCACCTTCTGCTCCTGCACCCCTGGCCAGGCCTCGTCACAGGCAAGGACACAACAGCTCAGCAGGTGAAGCCCTGGGCCTGGTGGGACTCAGGTTTGAATAGGAAAAGAGCAGTGAGGGGCCACAGTGACACCAAGAAGGGAAGGACGGGGGCCCTCTGAGACCCCAGGGAAAGGACTTTTGGGGCAGAATTCCCAAGAACTGAGAGGGTCCATCCCCCATGGGCGTTGGCCCCTTACTCTGCCAGATGCTGCTCGTTGCCTGGCAGGAGCCAGATGTGGTCAACCTGCATTCCCCTGGGAGCCCACTGTCCCCCCCCCCCCCCCGCCTCCGGCCTCCATCCCTTCAGCTCGGGTCTAGCCAGAAACTGACGTCCACCTCAAGTGTCCTCTGGACCTGCAACAGCCTTCTGGGGTCAAATGACCACCCACCCTTTCACCCCCAAGCCTCTGTGAGGTCAGCTTCTGCATCCCCTGGGTAGGGATGGGGGCTTCCTCTCCAGCCGTGCCGGCCCCTAGACCAGCCCTGAGGCGTGGAGGGAATCAAGCAAGTCCCCAGTGAAGCCTCCTGCTCGATCCGCCCCCAGAGCAAAGTCACTCCCAGGGACATGCAGGCCGAGCTGGGTGGACCCAGGCACCAGGAGAGGCTCACGAGAAAGATGCCAACCTCCCGCCAGGTGGGCCTGGATAGGGGCAGATGGGACCCTCTGGGTAGGCCGAGAGCAGGCAGCCGGGGAGTGGGGAAGGCAGGCACAGGAGCGTGGCGTTAGTTCTCTCTTTATATAGACTCTGGTTCTAGAAACTCGCCTGCAGCCGCTGGCTGGACCAGCACACGCTGACGGGGCCGGACTATTTACAGGCCCATTGCGGGCTGTACCTTGGCCACCTCCCGGCACGGTGCTCAGCTGTGACGCCAAAATAAGTTAGGGCCGGCCGGGCGGGGCGGGGCGGGGACGGGGGCTGTACACACAAGTGCTGGGGGCTCGGGGCCTCAATACTGTCGAGGGCCGGGGCTGTAAACATGGCCGGGGCGGCCCTGCCCACCCCTAGTGGTCGGTAACGACCGGAAGCAGAGCAGCCGGGCAGGGCTGGGAGGCTCAGGCGTCCGACAGGCAGCTCTGGATCCGGTCCACCCACTGCTGGGCCGAGGGCACGTCCTGGGCACAGAAGTTGTAAACGCGACGCGTTGTCTTCACCTGGGGAAGGGCGGGTTACTGACTCCGCAGCCCCCACACCGCAGAGCCCCTCCCCTCTCCCAAGCCCCGGGCCAAGGCTCACGTCAAAGAAGGCCTTCTCGTCCACAGTCTTAGGGGCACCCATAGTGGGCGTGCCAGGTGCCACAGCCTCCACCTCCGCCAAGTCGATGACACCCTTGCACTCTGTGTCCACACGGTGGTCGTAGTAGCGCAGCTGGAGGAGGCCACAGAGTCAGCGGAGCCCCCTCCCCCGTGAGTCCCCCCCACCACCTGATCACTCACCTGGTGCTTGGTCTTGTCCAGCACGAACCAGCGGGCCTTCCAAGGCTTCATGAAGGCCCCCTTCTTGTACAGAGTGCCCTCGTAGGACCTGCATTTCCAGCAGAACCAGGGCCAGGCTGACCGTCATGGCCCAGCCAAGCCCAGGCCCCAGCAGTCGTCCCCCCCTTGCTGTCCCAGCCCAGGAGGTAAGACCAGGCACCCTGTCCCCAGAACTGACCTAAGCCCAGAGCACTGGCCAGGGGGCCACAAAGAAGCCTTTGATGGGGGGCTGCAGGCCCAAGAAGACGACGCCCAGAAAGGAGACAGTGAAGGGCGCCTCACACCCTCCAGACTCCAGGGAGCATCCCCACACCAGAGCCTCAGGGTCTTGGGAAAGCAGCCCCCTACACAGGGCAGGCGCCCTTACGAGGAGAGGGATGGCCAGGCAGGTAGATCTGTAGAAGCAGCCACGGCAGCAGCTGCCTGGGATGGATCCTGCCAGACTCCAGACTCACGGGGGCCCCACCACTGCCCTCTCTCTACTCCTCCCTCAGCCACTGCAGGCTGTGGTCAGCTGTGGTCACCAGTTCGACACCCCAAACCCCTCCCAGTGGTGGTGTATACTTAAGCAAGCTCCTCAAAAGCACCCGCAATCTCCCACCAGAGGACTGCCTGGGACCCCAGAACACCAGCTCAGAGGTGTCCATGTGGCAGTGGGAGGTGCCCTCATACCTGTTCTCACTCTCTGCTGTCTGGAACTGGCTGTACAGGGTGCTGGTGCTGCGGCGGGCAGCCTGACGGGAGCCGGATGTGGTTGAGCCACTACTCTGGTCGCTGTCCAGGCTGAGGCTCAGGGTGGAGCCCACGGGCCCCTCCTGCAGGTACACACCCAGCGAGCGACGGTGGTGGGGTGCGGTGGACACAAGGAGGGAGCTAGGGGTGCCCTGGGAACAGGAGGTTGGGACTTGGGTCAGGGCTGGACAGACTCCACTTTCTCCCAGCAACACGCCCACCGTGGACGCTCACACTGGCCCTCACTCACACGGCCGTCTGGCCGGCCCTCGAGGCGCTGTGCAGCCTTCACCCGGTCCCAGGTGTCCTTCCAGCGCTCAGCGGGTTGGCCCAACTCTGTCTCCAGCCTCTGCAGCTCCTGGGGGAAGAATTAATGGCAAGTTTATTCAAAAGGAAATATCCAGACTAGAGCACGAAAAGACAAAAGGAAAACACAGGAAAGAGACACAACGGAAAGGCCTAACGCGTGTGTGACTGGCCACAGGGGGAGGTGGCAAGAGGGAGGGAAGGAATATGCAAAATGAATATTCGGAGACAACAGTTGAAAAATTTCCCAAACTAACCAGAGGCATCAAACAACATAATCAAGAAGCACTACAGACCCCAACAGGGTAAGTTAAAAACACACACCCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACAAACATGGAGAAACCGCATCTCTACTAAAAATACAAAAAGTTAGCCCAGCATGGTGGCGCACGCCTGTAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGAACGCGCCACTGCACACCAGCATGGGCAACAAGAGCAAAACTGCTTCTCAAAAAAAAAAAAGACCACACAATACTGATCTTCAACACTGCAGGGTCCACAATGTCCAGCTTACAATAAAAGAACAGCAGAAAAATGGAGAAAAACATTAAAATAGACCCTGAAATGAAACAGGAGTTAGAACATACAGTAAATTCAAGAGAGTGATTTTAGGGCCAGGCGCGGTGGCTCAC	benign	328,608
Does the variant on chromosome 22 at location 50447464 affecting gene SBF1 (SET binding factor 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	benign	CCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGGAACAGGGAGGGCAGGGTCCTTTCTCCCCTTACTCTGACCTGTGGGTTTTCCAGGTGCCAGGAACTTCGGTCAGGCGCCATCTGTCCGGCCTGAGGGAAGACCTGGCTGGTTTCAGTGGCTCAAGTGAGCCCACCCTCACATCTCGCCCAGGTGTCCCAACACCACCTGTGGGGTGGGGGAGGTGGCGGGACCATGCTGGGCCTGACAGGGTCCAAGGCCATCCTTGGCTTCAACGTCCCACCAGGGGAGGGTCTTGGCCCCCCACCTGCCAGCACTGGGCCCTGCCTCTGCAGCTGTCATCAGAACCTTCCCCTCACCCACACCTGCTGCTCGCCTCCCACCTGAGAGGACCACCTGAGGGACCCAGCCTCTAGCCAGGTTCTCTGCCCCTCACCAGCCCCTCTGGCCAGGTCACCAGCTGCCACTCTCAGATGTTCTCTTGGCCTTTGCAGCGTCTATAACCCTCCCCACCTTCTGCTCCTGCACCCCTGGCCAGGCCTCGTCACAGGCAAGGACACAACAGCTCAGCAGGTGAAGCCCTGGGCCTGGTGGGACTCAGGTTTGAATAGGAAAAGAGCAGTGAGGGGCCACAGTGACACCAAGAAGGGAAGGACGGGGGCCCTCTGAGACCCCAGGGAAAGGACTTTTGGGGCAGAATTCCCAAGAACTGAGAGGGTCCATCCCCCATGGGCGTTGGCCCCTTACTCTGCCAGATGCTGCTCGTTGCCTGGCAGGAGCCAGATGTGGTCAACCTGCATTCCCCTGGGAGCCCACTGTCCCCCCCCCCCCCCCGCCTCCGGCCTCCATCCCTTCAGCTCGGGTCTAGCCAGAAACTGACGTCCACCTCAAGTGTCCTCTGGACCTGCAACAGCCTTCTGGGGTCAAATGACCACCCACCCTTTCACCCCCAAGCCTCTGTGAGGTCAGCTTCTGCATCCCCTGGGTAGGGATGGGGGCTTCCTCTCCAGCCGTGCCGGCCCCTAGACCAGCCCTGAGGCGTGGAGGGAATCAAGCAAGTCCCCAGTGAAGCCTCCTGCTCGATCCGCCCCCAGAGCAAAGTCACTCCCAGGGACATGCAGGCCGAGCTGGGTGGACCCAGGCACCAGGAGAGGCTCACGAGAAAGATGCCAACCTCCCGCCAGGTGGGCCTGGATAGGGGCAGATGGGACCCTCTGGGTAGGCCGAGAGCAGGCAGCCGGGGAGTGGGGAAGGCAGGCACAGGAGCGTGGCGTTAGTTCTCTCTTTATATAGACTCTGGTTCTAGAAACTCGCCTGCAGCCGCTGGCTGGACCAGCACACGCTGACGGGGCCGGACTATTTACAGGCCCATTGCGGGCTGTACCTTGGCCACCTCCCGGCACGGTGCTCAGCTGTGACGCCAAAATAAGTTAGGGCCGGCCGGGCGGGGCGGGGCGGGGACGGGGGCTGTACACACAAGTGCTGGGGGCTCGGGGCCTCAATACTGTCGAGGGCCGGGGCTGTAAACATGGCCGGGGCGGCCCTGCCCACCCCTAGTGGTCGGTAACGACCGGAAGCAGAGCAGCCGGGCAGGGCTGGGAGGCTCAGGCGTCCGACAGGCAGCTCTGGATCCGGTCCACCCACTGCTGGGCCGAGGGCACGTCCTGGGCACAGAAGTTGTAAACGCGACGCGTTGTCTTCACCTGGGGAAGGGCGGGTTACTGACTCCGCAGCCCCCACACCGCAGAGCCCCTCCCCTCTCCCAAGCCCCGGCCAAGGCTCACGTCAAAGAAGGCCTTCTCGTCCACAGTCTTAGGGGCACCCATAGTGGGCGTGCCAGGTGCCACAGCCTCCACCTCCGCCAAGTCGATGACACCCTTGCACTCTGTGTCCACACGGTGGTCGTAGTAGCGCAGCTGGAGGAGGCCACAGAGTCAGCGGAGCCCCCTCCCCCGTGAGTCCCCCCCACCACCTGATCACTCACCTGGTGCTTGGTCTTGTCCAGCACGAACCAGCGGGCCTTCCAAGGCTTCATGAAGGCCCCCTTCTTGTACAGAGTGCCCTCGTAGGACCTGCATTTCCAGCAGAACCAGGGCCAGGCTGACCGTCATGGCCCAGCCAAGCCCAGGCCCCAGCAGTCGTCCCCCCCTTGCTGTCCCAGCCCAGGAGGTAAGACCAGGCACCCTGTCCCCAGAACTGACCTAAGCCCAGAGCACTGGCCAGGGGGCCACAAAGAAGCCTTTGATGGGGGGCTGCAGGCCCAAGAAGACGACGCCCAGAAAGGAGACAGTGAAGGGCGCCTCACACCCTCCAGACTCCAGGGAGCATCCCCACACCAGAGCCTCAGGGTCTTGGGAAAGCAGCCCCCTACACAGGGCAGGCGCCCTTACGAGGAGAGGGATGGCCAGGCAGGTAGATCTGTAGAAGCAGCCACGGCAGCAGCTGCCTGGGATGGATCCTGCCAGACTCCAGACTCACGGGGGCCCCACCACTGCCCTCTCTCTACTCCTCCCTCAGCCACTGCAGGCTGTGGTCAGCTGTGGTCACCAGTTCGACACCCCAAACCCCTCCCAGTGGTGGTGTATACTTAAGCAAGCTCCTCAAAAGCACCCGCAATCTCCCACCAGAGGACTGCCTGGGACCCCAGAACACCAGCTCAGAGGTGTCCATGTGGCAGTGGGAGGTGCCCTCATACCTGTTCTCACTCTCTGCTGTCTGGAACTGGCTGTACAGGGTGCTGGTGCTGCGGCGGGCAGCCTGACGGGAGCCGGATGTGGTTGAGCCACTACTCTGGTCGCTGTCCAGGCTGAGGCTCAGGGTGGAGCCCACGGGCCCCTCCTGCAGGTACACACCCAGCGAGCGACGGTGGTGGGGTGCGGTGGACACAAGGAGGGAGCTAGGGGTGCCCTGGGAACAGGAGGTTGGGACTTGGGTCAGGGCTGGACAGACTCCACTTTCTCCCAGCAACACGCCCACCGTGGACGCTCACACTGGCCCTCACTCACACGGCCGTCTGGCCGGCCCTCGAGGCGCTGTGCAGCCTTCACCCGGTCCCAGGTGTCCTTCCAGCGCTCAGCGGGTTGGCCCAACTCTGTCTCCAGCCTCTGCAGCTCCTGGGGGAAGAATTAATGGCAAGTTTATTCAAAAGGAAATATCCAGACTAGAGCACGAAAAGACAAAAGGAAAACACAGGAAAGAGACACAACGGAAAGGCCTAACGCGTGTGTGACTGGCCACAGGGGGAGGTGGCAAGAGGGAGGGAAGGAATATGCAAAATGAATATTCGGAGACAACAGTTGAAAAATTTCCCAAACTAACCAGAGGCATCAAACAACATAATCAAGAAGCACTACAGACCCCAACAGGGTAAGTTAAAAACACACACCCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACAAACATGGAGAAACCGCATCTCTACTAAAAATACAAAAAGTTAGCCCAGCATGGTGGCGCACGCCTGTAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGAACGCGCCACTGCACACCAGCATGGGCAACAAGAGCAAAACTGCTTCTCAAAAAAAAAAAAGACCACACAATACTGATCTTCAACACTGCAGGGTCCACAATGTCCAGCTTACAATAAAAGAACAGCAGAAAAATGGAGAAAAACATTAAAATAGACCCTGAAATGAAACAGGAGTTAGAACATACAGTAAATTCAAGAGAGTGATTTTAGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCAACTCTACTAAAAATACAAAAATTAGCCGGACGCAGTGGCAGGCACCAGTAATCCCAACTACTCAGGA	CCCCCACCCCGCCCCAGCGAGCTTGTCTTTCCACCACGGTTGGGGGTGGAGGGAACCCGCTCAGCTCCCCAGAGGCCGAGTCTCTGCCCCAGCTACACATTGAGTGCCTTGTTCTCGCCGCCTACCCTGTGCCTGGCATTTGTCCTCTCCCCCCACAGACGTGGAACAGGGAGGGCAGGGTCCTTTCTCCCCTTACTCTGACCTGTGGGTTTTCCAGGTGCCAGGAACTTCGGTCAGGCGCCATCTGTCCGGCCTGAGGGAAGACCTGGCTGGTTTCAGTGGCTCAAGTGAGCCCACCCTCACATCTCGCCCAGGTGTCCCAACACCACCTGTGGGGTGGGGGAGGTGGCGGGACCATGCTGGGCCTGACAGGGTCCAAGGCCATCCTTGGCTTCAACGTCCCACCAGGGGAGGGTCTTGGCCCCCCACCTGCCAGCACTGGGCCCTGCCTCTGCAGCTGTCATCAGAACCTTCCCCTCACCCACACCTGCTGCTCGCCTCCCACCTGAGAGGACCACCTGAGGGACCCAGCCTCTAGCCAGGTTCTCTGCCCCTCACCAGCCCCTCTGGCCAGGTCACCAGCTGCCACTCTCAGATGTTCTCTTGGCCTTTGCAGCGTCTATAACCCTCCCCACCTTCTGCTCCTGCACCCCTGGCCAGGCCTCGTCACAGGCAAGGACACAACAGCTCAGCAGGTGAAGCCCTGGGCCTGGTGGGACTCAGGTTTGAATAGGAAAAGAGCAGTGAGGGGCCACAGTGACACCAAGAAGGGAAGGACGGGGGCCCTCTGAGACCCCAGGGAAAGGACTTTTGGGGCAGAATTCCCAAGAACTGAGAGGGTCCATCCCCCATGGGCGTTGGCCCCTTACTCTGCCAGATGCTGCTCGTTGCCTGGCAGGAGCCAGATGTGGTCAACCTGCATTCCCCTGGGAGCCCACTGTCCCCCCCCCCCCCCCGCCTCCGGCCTCCATCCCTTCAGCTCGGGTCTAGCCAGAAACTGACGTCCACCTCAAGTGTCCTCTGGACCTGCAACAGCCTTCTGGGGTCAAATGACCACCCACCCTTTCACCCCCAAGCCTCTGTGAGGTCAGCTTCTGCATCCCCTGGGTAGGGATGGGGGCTTCCTCTCCAGCCGTGCCGGCCCCTAGACCAGCCCTGAGGCGTGGAGGGAATCAAGCAAGTCCCCAGTGAAGCCTCCTGCTCGATCCGCCCCCAGAGCAAAGTCACTCCCAGGGACATGCAGGCCGAGCTGGGTGGACCCAGGCACCAGGAGAGGCTCACGAGAAAGATGCCAACCTCCCGCCAGGTGGGCCTGGATAGGGGCAGATGGGACCCTCTGGGTAGGCCGAGAGCAGGCAGCCGGGGAGTGGGGAAGGCAGGCACAGGAGCGTGGCGTTAGTTCTCTCTTTATATAGACTCTGGTTCTAGAAACTCGCCTGCAGCCGCTGGCTGGACCAGCACACGCTGACGGGGCCGGACTATTTACAGGCCCATTGCGGGCTGTACCTTGGCCACCTCCCGGCACGGTGCTCAGCTGTGACGCCAAAATAAGTTAGGGCCGGCCGGGCGGGGCGGGGCGGGGACGGGGGCTGTACACACAAGTGCTGGGGGCTCGGGGCCTCAATACTGTCGAGGGCCGGGGCTGTAAACATGGCCGGGGCGGCCCTGCCCACCCCTAGTGGTCGGTAACGACCGGAAGCAGAGCAGCCGGGCAGGGCTGGGAGGCTCAGGCGTCCGACAGGCAGCTCTGGATCCGGTCCACCCACTGCTGGGCCGAGGGCACGTCCTGGGCACAGAAGTTGTAAACGCGACGCGTTGTCTTCACCTGGGGAAGGGCGGGTTACTGACTCCGCAGCCCCCACACCGCAGAGCCCCTCCCCTCTCCCAAGCCCCGGCCAAGGCTCACGTCAAAGAAGGCCTTCTCGTCCACAGTCTTAGGGGCACCCATAGTGGGCGTGCCAGGTGCCACAGCCTCCACCTCCGCCAAGTCGATGACACCCTTGCACTCTGTGTCCACACGGTGGTCGTAGTAGCGCAGCTGGAGGAGGCCAGAGTCAGCGGAGCCCCCTCCCCCGTGAGTCCCCCCCACCACCTGATCACTCACCTGGTGCTTGGTCTTGTCCAGCACGAACCAGCGGGCCTTCCAAGGCTTCATGAAGGCCCCCTTCTTGTACAGAGTGCCCTCGTAGGACCTGCATTTCCAGCAGAACCAGGGCCAGGCTGACCGTCATGGCCCAGCCAAGCCCAGGCCCCAGCAGTCGTCCCCCCCTTGCTGTCCCAGCCCAGGAGGTAAGACCAGGCACCCTGTCCCCAGAACTGACCTAAGCCCAGAGCACTGGCCAGGGGGCCACAAAGAAGCCTTTGATGGGGGGCTGCAGGCCCAAGAAGACGACGCCCAGAAAGGAGACAGTGAAGGGCGCCTCACACCCTCCAGACTCCAGGGAGCATCCCCACACCAGAGCCTCAGGGTCTTGGGAAAGCAGCCCCCTACACAGGGCAGGCGCCCTTACGAGGAGAGGGATGGCCAGGCAGGTAGATCTGTAGAAGCAGCCACGGCAGCAGCTGCCTGGGATGGATCCTGCCAGACTCCAGACTCACGGGGGCCCCACCACTGCCCTCTCTCTACTCCTCCCTCAGCCACTGCAGGCTGTGGTCAGCTGTGGTCACCAGTTCGACACCCCAAACCCCTCCCAGTGGTGGTGTATACTTAAGCAAGCTCCTCAAAAGCACCCGCAATCTCCCACCAGAGGACTGCCTGGGACCCCAGAACACCAGCTCAGAGGTGTCCATGTGGCAGTGGGAGGTGCCCTCATACCTGTTCTCACTCTCTGCTGTCTGGAACTGGCTGTACAGGGTGCTGGTGCTGCGGCGGGCAGCCTGACGGGAGCCGGATGTGGTTGAGCCACTACTCTGGTCGCTGTCCAGGCTGAGGCTCAGGGTGGAGCCCACGGGCCCCTCCTGCAGGTACACACCCAGCGAGCGACGGTGGTGGGGTGCGGTGGACACAAGGAGGGAGCTAGGGGTGCCCTGGGAACAGGAGGTTGGGACTTGGGTCAGGGCTGGACAGACTCCACTTTCTCCCAGCAACACGCCCACCGTGGACGCTCACACTGGCCCTCACTCACACGGCCGTCTGGCCGGCCCTCGAGGCGCTGTGCAGCCTTCACCCGGTCCCAGGTGTCCTTCCAGCGCTCAGCGGGTTGGCCCAACTCTGTCTCCAGCCTCTGCAGCTCCTGGGGGAAGAATTAATGGCAAGTTTATTCAAAAGGAAATATCCAGACTAGAGCACGAAAAGACAAAAGGAAAACACAGGAAAGAGACACAACGGAAAGGCCTAACGCGTGTGTGACTGGCCACAGGGGGAGGTGGCAAGAGGGAGGGAAGGAATATGCAAAATGAATATTCGGAGACAACAGTTGAAAAATTTCCCAAACTAACCAGAGGCATCAAACAACATAATCAAGAAGCACTACAGACCCCAACAGGGTAAGTTAAAAACACACACCCCGGCCAGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGACAAACATGGAGAAACCGCATCTCTACTAAAAATACAAAAAGTTAGCCCAGCATGGTGGCGCACGCCTGTAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCCGAGAACGCGCCACTGCACACCAGCATGGGCAACAAGAGCAAAACTGCTTCTCAAAAAAAAAAAAGACCACACAATACTGATCTTCAACACTGCAGGGTCCACAATGTCCAGCTTACAATAAAAGAACAGCAGAAAAATGGAGAAAAACATTAAAATAGACCCTGAAATGAAACAGGAGTTAGAACATACAGTAAATTCAAGAGAGTGATTTTAGGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGGCCAAGATGGTGAAACCCCAACTCTACTAAAAATACAAAAATTAGCCGGACGCAGTGGCAGGCACCAGTAATCCCAACTACTCAGGANN	benign	328,613
Variant chromosome 22, position 50459237, gene SBF1 (SET binding factor 1): benign or pathogenic? Disease(s)?	benign	GAGGGTTCCACCAAGCCCCCAGGGAGCCTGGAGACAGCAGGGGTCAGCCCCAAGTCCCTGATCGCAGGAAAGTGGGAAGAGCCATCCTGGTGTGGGCCTCTCTGCCAGGGCAGGGCAGGCCGCAGAGCACTCCGTGGCAGCAGAAGGGCTATGCGGTGGGGATCCCGGGCTCTCCTCTAACACTTCCTTTCTTCCCACTCAAACCAGCTTAGAGCAAGTCTGTCTCTGAGTCCCTCCCTCCACATCCTGGCCCTTTGTCCTCCACTCAGGGGGCCAGGGCTTGTGATGGGCACAGCTCAGAACGCTCCACACATGAGCATGTAGACGCCTCTGTCCAGGGCACAGCAACAGGAGGTGCCCAAGAGGTGTGGCCTGGAGAAGAGGCGACCTGGAGGCTTCCCGAAGAGGGGAGAGGGTGGGCTCAGAGCCTGAGCCCAGTCCAAAAGGACGGAGAGCAGCTCAGTCCAGGACACAGGCAGATCTGAGTCCCAGGCTGAGGTTTACGGTCCAGACGACGTGGCCTGAAGGCACAGGGAGGACTGGCAGCCCAAAGGGCTGGGAGATGCCTGGGGTCCACAGAGGGTCTCTGGGCGCCTGGCCCTGCCCAGGCTCACCTGCTTCTGCAAGGCCCGAGGGTGGGACTGAGAGAGGCAATGTCCCCTCGTCCACCAAGTGGTCACTACAGGCCAAGCACAATGCCAGCCCAACACGCCCTGTGTCCTCTGACGGCTGCCACACTGCAGGCGCCCAGCTCACAGTGAGGACGCAGCACCAGCCTGCTTTGGACGCCAACCAGGGCCCAGTGTATCCTTGTAAAAAGGTCAGAGCTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTAAAACCCTGTCTCTACTAAAAATACAATACAAAAAAATCAGCCGGGCGCGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACCGCACTCCAGCGTGGGTGACAGAGAAAGACTCCGACTCAAAAAAAAAAAAAAAAAAAGGTCAGGGCTGGGACTAGAAGCCACGACTACAGCTGAGTGAAGCTTGAGCCCCTGAGCATTGCTGGGCACTGAGGGGGACACGGGGAGGCAGCAGCCACTGGCACTGGGGATGGTCGGAGACGCAAAAGGGACTCTGTGGGAAGCACAGGCATGGGGGGTGCAGGGGCGGCCCCACCTGCAAATGCCACTCAGGGTTTCTGGCAGGGGTGGGAAGGCAGCAAGACAGGGCGATTGTAAAATGTAAGTATATAATGTGGTATCTGGAAAAACAAAACCACTTCTGAACTAGAGAACAGGTGGTCCGGACACAGGAGTGAGTGTGGGGCCTATCTGCCACCCCGTCCTGGGGCCAGTCTAGCTCAGTGTGTGCAGGGCGCCTGTGAAGTGTGCGTGGCGGTGGGGACAGAGACAGCAAGGCCAGCTCGGGCAAGGCCCAAGGAACCAGGACACACGAGGACAGAGGCCAAGCTGCAGGCAGAGCCAGGCCAGAGGCTCCAAAGACAGTCTGGATTGGGGGATGCAGGGAGGGTGGAGTGTGGGGGATGAGGAAAAACAGTGACACTGGGAGGGAACAGGACAGAGGAGCATCTGGGATGTTTCCAGGCTGTGGGAAATGGTAAGACAGAGCCGCGTAGAGGCAGCACCCGGAGGACCCTACAGGAAGCTGCAGCAGACGCAGAGGTGGAGAGCGGGCAGGACGTCAGGGCGGGCAGGAGGTCAGGGCACACACCTGGTCTGGGCACACACTTGGTCTGGACAGGCTTCCCGCCCCTGCCCCACGGCACCCGGAGGGCATGCTCCTCATCCCACACCCAAACATCCATGACCAGCGCCGTTTCTGCTCCTCCCTGGCCTGCCTGCCAAACCATAAATGCCACCACGGCCCCCCAAAGTGCCCCTGCCCCACCGTCTGCCCACAAGCACCCTCACCGTGACTGCCCATGTGGGCTGAGGAGAAGCCGCTAAGCGTGTTGCGTCCCGACGCGTCGGCGTAGCGGGGCATGGAGCTGACCACAGCCTGCAGGTACTTCTCCTGCTCCAGGCTACTCGAGTCCGCCTGGGACTGGCCTGGGGGAGGACACGGAGCTGAGGGAGGGGAGGGTGAGATAGGGCAGGGCAGGCACAGGGCAGGACGCAGGAGGTACCTGGAGAAGGTGCGTTCTGGGCCTTGAAGAGGCCGACGACACCTTTGCCATGCAGGCCTCCAGAGCGCAGCAGCACCGCCTTGGACCGCCCGCTGCGCCAGCAGACCACGGGGAAGCGGTTCTGGCGGTAGCAGCGGGACACGCGCTGCAGGGCGTTGTCCTGGACACTCTGGGGCACGATCAGCAGCCCTGGGTAGCTGAGAGGAGGCAGAGGCGTGAAGGTGGCTGGCGACCCCACCCGCCTCCAGGCTCACGCCCCAAGCAGGGCAAGAGGAGCCAGCCCATGGCTCCCAGCAGGAGGCGCTTCCAGCTCAGCCACGGGGCCCCCCAGCCACCCCCCAGCCCTGTGGCCCGTCCCTCTGCCCGGAGTCTCCCCCTCCACATTCCTTACATGACCAGAAGCCGTGGCCCAGGCCCACAGCGGGCAGGGAAGACACCCAGTCACGTGTCCACCACCCGGGCCAGCCCTGGCCGGCCCTCACCTGCGGCAGATGGCATACATGCGGTTGACCGGAGAAATGCGGAAGGGCTCAGACTTGGCCCGGCTCAGGCTGCTGCTCAGGGTGCCCAGACCGAGGCGCTGGTAGTCGCGACAGCAAGCCCTTTCCACCAGGCTGCTCATGGTCATGCGGTCGGAGGGCTTCAGGGCTGAGGACGGGGTCAGCGTGCTGGGCTCCAGCTCCTCCGACACTGCACAGGCCGGGCACACGTGGTCATCACGGGGCCACTCCGCCTGCCCTGATCCTCCCTGGCCAATGTCAGCATCCAGAGACCACCCAGGACTCCACCCCCACCCCTCCACCTGAGATCTCGTCCTCCTGGTCCTCAGGGGGCGGCTGGCCCCGGTGCTCCCAGCTGGGGGGGTTGTACTTCTTGCGAGTGACATGCTGCCGCCCGATGGTCTTCTTGGCGTTCTTGACCAGGTTCCGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGTGTCAGTAAAAGCAGCCCTTAGGGGTGTGGGTGGCCCCCCAGCCCCTCCCCCAACTCTGACACTGCCAGGCTCCCCTTCCCCTCGCAGCCATGACAGAGAGAGAAGCAGGCCCCAGGCAAAGGCCTGTATCTGTGTCACACGAAGGCAAGCGCTTGTGTAAACTCGAAATCTCAGTGGCTGTGAGCTGAGGCCTGGGTTTGCAAGGCACACCCAAGACACGGACTTGAGGGCCGGCGCCCCAAGGAAAGGACAAGGACCCAAAGACCGCACATCAAACAGTGGACATCAACTCAAGAGCCACAGTGAGGGCCCCAGACATGCAAGCGTAACAACAGGGCCACTGCTGGAGACTGGCCTAAAAATGGTTCATACAAGAAAGACCGGTTTGCAGGAGAAAGACCAGGGCGGGGGATGAGAGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCAGGAGCGCAGCTGGAGCCCGTCCTGCAGGAGCTGGTCCACAGGGGTCTGGACGCTGATGCGCTTCTCCTTGGTCAGCGCAGCCACCGGGAAGGAGCGGACCACCACCTGCTCCCC	GAGGGTTCCACCAAGCCCCCAGGGAGCCTGGAGACAGCAGGGGTCAGCCCCAAGTCCCTGATCGCAGGAAAGTGGGAAGAGCCATCCTGGTGTGGGCCTCTCTGCCAGGGCAGGGCAGGCCGCAGAGCACTCCGTGGCAGCAGAAGGGCTATGCGGTGGGGATCCCGGGCTCTCCTCTAACACTTCCTTTCTTCCCACTCAAACCAGCTTAGAGCAAGTCTGTCTCTGAGTCCCTCCCTCCACATCCTGGCCCTTTGTCCTCCACTCAGGGGGCCAGGGCTTGTGATGGGCACAGCTCAGAACGCTCCACACATGAGCATGTAGACGCCTCTGTCCAGGGCACAGCAACAGGAGGTGCCCAAGAGGTGTGGCCTGGAGAAGAGGCGACCTGGAGGCTTCCCGAAGAGGGGAGAGGGTGGGCTCAGAGCCTGAGCCCAGTCCAAAAGGACGGAGAGCAGCTCAGTCCAGGACACAGGCAGATCTGAGTCCCAGGCTGAGGTTTACGGTCCAGACGACGTGGCCTGAAGGCACAGGGAGGACTGGCAGCCCAAAGGGCTGGGAGATGCCTGGGGTCCACAGAGGGTCTCTGGGCGCCTGGCCCTGCCCAGGCTCACCTGCTTCTGCAAGGCCCGAGGGTGGGACTGAGAGAGGCAATGTCCCCTCGTCCACCAAGTGGTCACTACAGGCCAAGCACAATGCCAGCCCAACACGCCCTGTGTCCTCTGACGGCTGCCACACTGCAGGCGCCCAGCTCACAGTGAGGACGCAGCACCAGCCTGCTTTGGACGCCAACCAGGGCCCAGTGTATCCTTGTAAAAAGGTCAGAGCTGGCCAGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACCAGGTCAGGAGATCGAGATCATCCTGGCTAACACGGTAAAACCCTGTCTCTACTAAAAATACAATACAAAAAAATCAGCCGGGCGCGGTGGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATCGCACCACCGCACTCCAGCGTGGGTGACAGAGAAAGACTCCGACTCAAAAAAAAAAAAAAAAAAAGGTCAGGGCTGGGACTAGAAGCCACGACTACAGCTGAGTGAAGCTTGAGCCCCTGAGCATTGCTGGGCACTGAGGGGGACACGGGGAGGCAGCAGCCACTGGCACTGGGGATGGTCGGAGACGCAAAAGGGACTCTGTGGGAAGCACAGGCATGGGGGGTGCAGGGGCGGCCCCACCTGCAAATGCCACTCAGGGTTTCTGGCAGGGGTGGGAAGGCAGCAAGACAGGGCGATTGTAAAATGTAAGTATATAATGTGGTATCTGGAAAAACAAAACCACTTCTGAACTAGAGAACAGGTGGTCCGGACACAGGAGTGAGTGTGGGGCCTATCTGCCACCCCGTCCTGGGGCCAGTCTAGCTCAGTGTGTGCAGGGCGCCTGTGAAGTGTGCGTGGCGGTGGGGACAGAGACAGCAAGGCCAGCTCGGGCAAGGCCCAAGGAACCAGGACACACGAGGACAGAGGCCAAGCTGCAGGCAGAGCCAGGCCAGAGGCTCCAAAGACAGTCTGGATTGGGGGATGCAGGGAGGGTGGAGTGTGGGGGATGAGGAAAAACAGTGACACTGGGAGGGAACAGGACAGAGGAGCATCTGGGATGTTTCCAGGCTGTGGGAAATGGTAAGACAGAGCCGCGTAGAGGCAGCACCCGGAGGACCCTACAGGAAGCTGCAGCAGACGCAGAGGTGGAGAGCGGGCAGGACGTCAGGGCGGGCAGGAGGTCAGGGCACACACCTGGTCTGGGCACACACTTGGTCTGGACAGGCTTCCCGCCCCTGCCCCACGGCACCCGGAGGGCATGCTCCTCATCCCACACCCAAACATCCATGACCAGCGCCGTTTCTGCTCCTCCCTGGCCTGCCTGCCAAACCATAAATGCCACCACGGCCCCCCAAAGTGCCCCTGCCCCACCGTCTGCCACAAGCACCCTCACCGTGACTGCCCATGTGGGCTGAGGAGAAGCCGCTAAGCGTGTTGCGTCCCGACGCGTCGGCGTAGCGGGGCATGGAGCTGACCACAGCCTGCAGGTACTTCTCCTGCTCCAGGCTACTCGAGTCCGCCTGGGACTGGCCTGGGGGAGGACACGGAGCTGAGGGAGGGGAGGGTGAGATAGGGCAGGGCAGGCACAGGGCAGGACGCAGGAGGTACCTGGAGAAGGTGCGTTCTGGGCCTTGAAGAGGCCGACGACACCTTTGCCATGCAGGCCTCCAGAGCGCAGCAGCACCGCCTTGGACCGCCCGCTGCGCCAGCAGACCACGGGGAAGCGGTTCTGGCGGTAGCAGCGGGACACGCGCTGCAGGGCGTTGTCCTGGACACTCTGGGGCACGATCAGCAGCCCTGGGTAGCTGAGAGGAGGCAGAGGCGTGAAGGTGGCTGGCGACCCCACCCGCCTCCAGGCTCACGCCCCAAGCAGGGCAAGAGGAGCCAGCCCATGGCTCCCAGCAGGAGGCGCTTCCAGCTCAGCCACGGGGCCCCCCAGCCACCCCCCAGCCCTGTGGCCCGTCCCTCTGCCCGGAGTCTCCCCCTCCACATTCCTTACATGACCAGAAGCCGTGGCCCAGGCCCACAGCGGGCAGGGAAGACACCCAGTCACGTGTCCACCACCCGGGCCAGCCCTGGCCGGCCCTCACCTGCGGCAGATGGCATACATGCGGTTGACCGGAGAAATGCGGAAGGGCTCAGACTTGGCCCGGCTCAGGCTGCTGCTCAGGGTGCCCAGACCGAGGCGCTGGTAGTCGCGACAGCAAGCCCTTTCCACCAGGCTGCTCATGGTCATGCGGTCGGAGGGCTTCAGGGCTGAGGACGGGGTCAGCGTGCTGGGCTCCAGCTCCTCCGACACTGCACAGGCCGGGCACACGTGGTCATCACGGGGCCACTCCGCCTGCCCTGATCCTCCCTGGCCAATGTCAGCATCCAGAGACCACCCAGGACTCCACCCCCACCCCTCCACCTGAGATCTCGTCCTCCTGGTCCTCAGGGGGCGGCTGGCCCCGGTGCTCCCAGCTGGGGGGGTTGTACTTCTTGCGAGTGACATGCTGCCGCCCGATGGTCTTCTTGGCGTTCTTGACCAGGTTCCGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGTGTCAGTAAAAGCAGCCCTTAGGGGTGTGGGTGGCCCCCCAGCCCCTCCCCCAACTCTGACACTGCCAGGCTCCCCTTCCCCTCGCAGCCATGACAGAGAGAGAAGCAGGCCCCAGGCAAAGGCCTGTATCTGTGTCACACGAAGGCAAGCGCTTGTGTAAACTCGAAATCTCAGTGGCTGTGAGCTGAGGCCTGGGTTTGCAAGGCACACCCAAGACACGGACTTGAGGGCCGGCGCCCCAAGGAAAGGACAAGGACCCAAAGACCGCACATCAAACAGTGGACATCAACTCAAGAGCCACAGTGAGGGCCCCAGACATGCAAGCGTAACAACAGGGCCACTGCTGGAGACTGGCCTAAAAATGGTTCATACAAGAAAGACCGGTTTGCAGGAGAAAGACCAGGGCGGGGGATGAGAGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCAGGAGCGCAGCTGGAGCCCGTCCTGCAGGAGCTGGTCCACAGGGGTCTGGACGCTGATGCGCTTCTCCTTGGTCAGCGCAGCCACCGGGAAGGAGCGGACCACCACCTGCTCCCCN	benign	328,662
For chromosome 22, position 50462186, gene SBF1 (SET binding factor 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	benign	CTGGGCTCCAGCTCCTCCGACACTGCACAGGCCGGGCACACGTGGTCATCACGGGGCCACTCCGCCTGCCCTGATCCTCCCTGGCCAATGTCAGCATCCAGAGACCACCCAGGACTCCACCCCCACCCCTCCACCTGAGATCTCGTCCTCCTGGTCCTCAGGGGGCGGCTGGCCCCGGTGCTCCCAGCTGGGGGGGTTGTACTTCTTGCGAGTGACATGCTGCCGCCCGATGGTCTTCTTGGCGTTCTTGACCAGGTTCCGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGTGTCAGTAAAAGCAGCCCTTAGGGGTGTGGGTGGCCCCCCAGCCCCTCCCCCAACTCTGACACTGCCAGGCTCCCCTTCCCCTCGCAGCCATGACAGAGAGAGAAGCAGGCCCCAGGCAAAGGCCTGTATCTGTGTCACACGAAGGCAAGCGCTTGTGTAAACTCGAAATCTCAGTGGCTGTGAGCTGAGGCCTGGGTTTGCAAGGCACACCCAAGACACGGACTTGAGGGCCGGCGCCCCAAGGAAAGGACAAGGACCCAAAGACCGCACATCAAACAGTGGACATCAACTCAAGAGCCACAGTGAGGGCCCCAGACATGCAAGCGTAACAACAGGGCCACTGCTGGAGACTGGCCTAAAAATGGTTCATACAAGAAAGACCGGTTTGCAGGAGAAAGACCAGGGCGGGGGATGAGAGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCAGGAGCGCAGCTGGAGCCCGTCCTGCAGGAGCTGGTCCACAGGGGTCTGGACGCTGATGCGCTTCTCCTTGGTCAGCGCAGCCACCGGGAAGGAGCGGACCACCACCTGCTCCCCAACTTAGGACAGGCCAGGCAGAGTCAGAAGCAAGGAAGGTAAGGGGGGGGGGGTCCCAGAATCTCAGGGTACCACAGTTATGGGGAATCCCAAGTGGGTGGGGAAGGAGCAGACAAAGGCCCGTTTCCCACGGGCACCCAGAACCCCCGAGAAAAGGGAGAGGGAGGCAGGGAAAGCCCATCCATCCCAAAGACCTGGGGGAGAGGGGGCGACAGGGCCAGAGAGTCTGCAGGCTCACCCAGGGGGTCCGTGGGCATCCCCGTGAAGATGACCCGGTACGTGGTGAGGAAGACGGCGCCCTCAGCTGGGAGCAATGCTGGTCCCCCAGCACTGCCCCCCGCGCCCTCCTCACGCCCATCCGGCAGCAGGTAGACGCGCAGGCCGTCCAGCACACACTCCTCACCCGGCAGCAGGCGCGGCCGCAGCAGCTTGGGCTGCTCGAAAACAAGAGCAGGAGCTCAGGATGCAGCCCGGGCCTTGGGCCCCCGCAGCCCCAACGGCCCCCGCAAACCTTCTGGATGGGCGGCAGCCTCCGGCTCTCCCGCTGCACGGCCTCCAGGGTCTCGATGTGCATCTGGACAATGTCTGGGGGAAGACAGTTCTCACACTTTGTGCCCAGCCCCACCCATCCAAGGGGGAATCACCAGCCCAAACCCCCGTACCTGGCACCATGACATGCAGCCCCTTGAGGTGGTCGCTGGTGACCCCACTCTCCGTGCAGACCTTGTCCACAAAGCGGTTGATGAAGCGGACCACAGCCCCAGCTACGTCGCAGGTCTCTGCATCCTCGAAGCCGCTCTCCGTGTCATAGCTCTCGGCCACACTGCCAGCCATGCTGGGCCAGAGAAGAAACTGTGGGCATGGGCCCTGCCCACCACGGCCCCGCCTCCACTGGGCCCAACCCCCAGTCCCTGCCTCACCTGTTGGTGACCAGGCTGTTGCTGGCGCTCTCCAGGTCGCCCAGCCCGGCACGCTCCCGAAGTAGGCGGCTCTTGCTGCTGTCCAGGGGCAGGAGGAGGTAGCTCATGCGGTTGGCATAGTGGATGGCCTGGCTGAACACCGTGCTCTCCTCCTTCTGCACCAGCTCCTGCTGCTTCTCACGACTCAGAGTTGGCCACAAGCGCCGCTGCTCAGAAGCCACGTCTAGGGCAGAGCGCTCGTCCTCCTGGGAAGGTGCCTCCCCAACCTCCTGCCACGGCACCACACGCATGAGCCGGGGCCACGCTGCCCCAGCCCCTAGCCCCCAGCCCCCAGCCCAGGGAGTCCCTGCGCACCTGGGCGGGGGCCAGGTCCTCCGTGGGCTCCAGGTAGAGGGCCCGGATGTGAGTCTGCACATCCCCATAGAACATGGCCTCCCAGAACTGTGGCGTGCTCCACACCACGTGCTCCTGCACACAGCTGTATGCAAACTGCGTCACCCCCGGGCTCAGCTTCTGCAGGAGCCAGGGGAGAAGGTCAGCTGGATGCAGCCAGGAAGGGCGGCTGGGAAGGAGACCTCGGCCACCAGGAAGGGGGGCTGGGAAGGAGACCTCAGCCACCAGGAAGGGGGGGCTGGGAAGGAGACCTCAGCCATGCCAGCACTCACCCGGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCC	CTGGGCTCCAGCTCCTCCGACACTGCACAGGCCGGGCACACGTGGTCATCACGGGGCCACTCCGCCTGCCCTGATCCTCCCTGGCCAATGTCAGCATCCAGAGACCACCCAGGACTCCACCCCCACCCCTCCACCTGAGATCTCGTCCTCCTGGTCCTCAGGGGGCGGCTGGCCCCGGTGCTCCCAGCTGGGGGGGTTGTACTTCTTGCGAGTGACATGCTGCCGCCCGATGGTCTTCTTGGCGTTCTTGACCAGGTTCCGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGTGTCAGTAAAAGCAGCCCTTAGGGGTGTGGGTGGCCCCCCAGCCCCTCCCCCAACTCTGACACTGCCAGGCTCCCCTTCCCCTCGCAGCCATGACAGAGAGAGAAGCAGGCCCCAGGCAAAGGCCTGTATCTGTGTCACACGAAGGCAAGCGCTTGTGTAAACTCGAAATCTCAGTGGCTGTGAGCTGAGGCCTGGGTTTGCAAGGCACACCCAAGACACGGACTTGAGGGCCGGCGCCCCAAGGAAAGGACAAGGACCCAAAGACCGCACATCAAACAGTGGACATCAACTCAAGAGCCACAGTGAGGGCCCCAGACATGCAAGCGTAACAACAGGGCCACTGCTGGAGACTGGCCTAAAAATGGTTCATACAAGAAAGACCGGTTTGCAGGAGAAAGACCAGGGCGGGGGATGAGAGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCAGGAGCGCAGCTGGAGCCCGTCCTGCAGGAGCTGGTCCACAGGGGTCTGGACGCTGATGCGCTTCTCCTTGGTCAGCGCAGCCACCGGGAAGGAGCGGACCACCACCTGCTCCCCAACTTAGGACAGGCCAGGCAGAGTCAGAAGCAAGGAAGGTAAGGGGGGGGGGGTCCCAGAATCTCAGGGTACCACAGTTATGGGGAATCCCAAGTGGGTGGGGAAGGAGCAGACAAAGGCCCGTTTCCCACGGGCACCCAGAACCCCCGAGAAAAGGGAGAGGGAGGCAGGGAAAGCCCATCCATCCCAAAGACCTGGGGGAGAGGGGGCGACAGGGCCAGAGAGTCTGCAGGCTCACCCAGGGGGTCCGTGGGCATCCCCGTGAAGATGACCCGGTACGTGGTGAGGAAGACGGCGCCCTCAGCTGGGAGCAATGCTGGTCCCCCAGCACTGCCCCCCGCGCCCTCCTCACGCCCATCCGGCAGCAGGTAGACGCGCAGGCCGTCCAGCACACACTCCTCACCCGGCAGCAGGCGCGGCCGCAGCAGCTTGGGCTGCTCGAAAACAAGAGCAGGAGCTCAGGATGCAGCCCGGGCCTTGGGCCCCCGCAGCCCCAACGGCCCCCGCAAACCTTCTGGATGGGCGGCAGCCTCCGGCTCTCCCGCTGCACGGCCTCCAGGGTCTCGATGTGCATCTGGACAATGTCTGGGGGAAGACAGTTCTCACACTTTGTGCCCAGCCCCACCCATCCAAGGGGGAATCACCAGCCCAAACCCCCGTACCTGGCACCATGACATGCAGCCCCTTGAGGTGGTCGCTGGTGACCCCACTCTCCGTGCAGACCTTGTCCACAAAGCGGTTGATGAAGCGGACCACAGCCCCAGCTACGTCGCAGGTCTCTGCATCCTCGAAGCCGCTCTCCGTGTCATAGCTCTCGGCCACACTGCCAGCCATGCTGGGCCAGAGAAGAAACTGTGGGCATGGGCCCTGCCCACCACGGCCCCGCCTCCACTGGGCCCAACCCTCACCTGTTGGTGACCAGGCTGTTGCTGGCGCTCTCCAGGTCGCCCAGCCCGGCACGCTCCCGAAGTAGGCGGCTCTTGCTGCTGTCCAGGGGCAGGAGGAGGTAGCTCATGCGGTTGGCATAGTGGATGGCCTGGCTGAACACCGTGCTCTCCTCCTTCTGCACCAGCTCCTGCTGCTTCTCACGACTCAGAGTTGGCCACAAGCGCCGCTGCTCAGAAGCCACGTCTAGGGCAGAGCGCTCGTCCTCCTGGGAAGGTGCCTCCCCAACCTCCTGCCACGGCACCACACGCATGAGCCGGGGCCACGCTGCCCCAGCCCCTAGCCCCCAGCCCCCAGCCCAGGGAGTCCCTGCGCACCTGGGCGGGGGCCAGGTCCTCCGTGGGCTCCAGGTAGAGGGCCCGGATGTGAGTCTGCACATCCCCATAGAACATGGCCTCCCAGAACTGTGGCGTGCTCCACACCACGTGCTCCTGCACACAGCTGTATGCAAACTGCGTCACCCCCGGGCTCAGCTTCTGCAGGAGCCAGGGGAGAAGGTCAGCTGGATGCAGCCAGGAAGGGCGGCTGGGAAGGAGACCTCGGCCACCAGGAAGGGGGGCTGGGAAGGAGACCTCAGCCACCAGGAAGGGGGGGCTGGGAAGGAGACCTCAGCCATGCCAGCACTCACCCGGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCCNNNNNNNNNNNN	benign	328,701
Variant at chromosome 22, position 50462445, gene SBF1 (SET binding factor 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Charcot-Marie-Tooth_disease_type_4']	CGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGTGTCAGTAAAAGCAGCCCTTAGGGGTGTGGGTGGCCCCCCAGCCCCTCCCCCAACTCTGACACTGCCAGGCTCCCCTTCCCCTCGCAGCCATGACAGAGAGAGAAGCAGGCCCCAGGCAAAGGCCTGTATCTGTGTCACACGAAGGCAAGCGCTTGTGTAAACTCGAAATCTCAGTGGCTGTGAGCTGAGGCCTGGGTTTGCAAGGCACACCCAAGACACGGACTTGAGGGCCGGCGCCCCAAGGAAAGGACAAGGACCCAAAGACCGCACATCAAACAGTGGACATCAACTCAAGAGCCACAGTGAGGGCCCCAGACATGCAAGCGTAACAACAGGGCCACTGCTGGAGACTGGCCTAAAAATGGTTCATACAAGAAAGACCGGTTTGCAGGAGAAAGACCAGGGCGGGGGATGAGAGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCAGGAGCGCAGCTGGAGCCCGTCCTGCAGGAGCTGGTCCACAGGGGTCTGGACGCTGATGCGCTTCTCCTTGGTCAGCGCAGCCACCGGGAAGGAGCGGACCACCACCTGCTCCCCAACTTAGGACAGGCCAGGCAGAGTCAGAAGCAAGGAAGGTAAGGGGGGGGGGGTCCCAGAATCTCAGGGTACCACAGTTATGGGGAATCCCAAGTGGGTGGGGAAGGAGCAGACAAAGGCCCGTTTCCCACGGGCACCCAGAACCCCCGAGAAAAGGGAGAGGGAGGCAGGGAAAGCCCATCCATCCCAAAGACCTGGGGGAGAGGGGGCGACAGGGCCAGAGAGTCTGCAGGCTCACCCAGGGGGTCCGTGGGCATCCCCGTGAAGATGACCCGGTACGTGGTGAGGAAGACGGCGCCCTCAGCTGGGAGCAATGCTGGTCCCCCAGCACTGCCCCCCGCGCCCTCCTCACGCCCATCCGGCAGCAGGTAGACGCGCAGGCCGTCCAGCACACACTCCTCACCCGGCAGCAGGCGCGGCCGCAGCAGCTTGGGCTGCTCGAAAACAAGAGCAGGAGCTCAGGATGCAGCCCGGGCCTTGGGCCCCCGCAGCCCCAACGGCCCCCGCAAACCTTCTGGATGGGCGGCAGCCTCCGGCTCTCCCGCTGCACGGCCTCCAGGGTCTCGATGTGCATCTGGACAATGTCTGGGGGAAGACAGTTCTCACACTTTGTGCCCAGCCCCACCCATCCAAGGGGGAATCACCAGCCCAAACCCCCGTACCTGGCACCATGACATGCAGCCCCTTGAGGTGGTCGCTGGTGACCCCACTCTCCGTGCAGACCTTGTCCACAAAGCGGTTGATGAAGCGGACCACAGCCCCAGCTACGTCGCAGGTCTCTGCATCCTCGAAGCCGCTCTCCGTGTCATAGCTCTCGGCCACACTGCCAGCCATGCTGGGCCAGAGAAGAAACTGTGGGCATGGGCCCTGCCCACCACGGCCCCGCCTCCACTGGGCCCAACCCCCAGTCCCTGCCTCACCTGTTGGTGACCAGGCTGTTGCTGGCGCTCTCCAGGTCGCCCAGCCCGGCACGCTCCCGAAGTAGGCGGCTCTTGCTGCTGTCCAGGGGCAGGAGGAGGTAGCTCATGCGGTTGGCATAGTGGATGGCCTGGCTGAACACCGTGCTCTCCTCCTTCTGCACCAGCTCCTGCTGCTTCTCACGACTCAGAGTTGGCCACAAGCGCCGCTGCTCAGAAGCCACGTCTAGGGCAGAGCGCTCGTCCTCCTGGGAAGGTGCCTCCCCAACCTCCTGCCACGGCACCACACGCATGAGCCGGGGCCACGCTGCCCCAGCCCCTAGCCCCCAGCCCCCAGCCCAGGGAGTCCCTGCGCACCTGGGCGGGGGCCAGGTCCTCCGTGGGCTCCAGGTAGAGGGCCCGGATGTGAGTCTGCACATCCCCATAGAACATGGCCTCCCAGAACTGTGGCGTGCTCCACACCACGTGCTCCTGCACACAGCTGTATGCAAACTGCGTCACCCCCGGGCTCAGCTTCTGCAGGAGCCAGGGGAGAAGGTCAGCTGGATGCAGCCAGGAAGGGCGGCTGGGAAGGAGACCTCGGCCACCAGGAAGGGGGGCTGGGAAGGAGACCTCAGCCACCAGGAAGGGGGGGCTGGGAAGGAGACCTCAGCCATGCCAGCACTCACCCGGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCCCTGGGGCAGCGTCAGCACTCACAAGGGTGAAGTGCAGCCTGGGTCTCCTCTGAAACCCGCTGCCCTGGCCCGGCTGGAGCCTGCACAGCCCTCACCTTCTTGGCCTCAAGCATTTTCCCCTCAAACACGTAGGAGATGCAGTTGCGCACAACCTCCAGCCGCCGGGCGCTGTTGACATGCAGCCCACTGCACCGCTCCAGTATGGCAGCTGCGGGGACAGAATACACACACTCGGACCCCTGACCCCACGCCCATCCTG	CGGGACAGGGTTCTGAGGCCCACGAGAGTCAGCAAAGGTGAGAGGAGGAGGGACAAAGATGAGCACAGGGGCCTAGGAGGGTTGGAGCGGGAACACGGCTGAGGCCCAGCTGCCCTGCCTGGGACCCAGATCCATACCTGAGGGAAGGACCCTTGTCCTTGGTGACTCGCGGTGGCCGGCCAGGTGTGTGGGCAGAGCCCAAGGTGAACGCAAAGGTGGCCCTGATGTCCGGCGGGTACCGCAGCTTATGCAGCTGCTTACGGAAGAGCTCGGCGCTGTCAGACCCCACCTCCTCGTCAAAGGCCATTTTCAGCAGCTGTGTCAGTAAAAGCAGCCCTTAGGGGTGTGGGTGGCCCCCCAGCCCCTCCCCCAACTCTGACACTGCCAGGCTCCCCTTCCCCTCGCAGCCATGACAGAGAGAGAAGCAGGCCCCAGGCAAAGGCCTGTATCTGTGTCACACGAAGGCAAGCGCTTGTGTAAACTCGAAATCTCAGTGGCTGTGAGCTGAGGCCTGGGTTTGCAAGGCACACCCAAGACACGGACTTGAGGGCCGGCGCCCCAAGGAAAGGACAAGGACCCAAAGACCGCACATCAAACAGTGGACATCAACTCAAGAGCCACAGTGAGGGCCCCAGACATGCAAGCGTAACAACAGGGCCACTGCTGGAGACTGGCCTAAAAATGGTTCATACAAGAAAGACCGGTTTGCAGGAGAAAGACCAGGGCGGGGGATGAGAGCCCCACCCGCGCACCGCGCCCCACCTGGAATGTGCAGGAGCGCAGCTGGAGCCCGTCCTGCAGGAGCTGGTCCACAGGGGTCTGGACGCTGATGCGCTTCTCCTTGGTCAGCGCAGCCACCGGGAAGGAGCGGACCACCACCTGCTCCCCAACTTAGGACAGGCCAGGCAGAGTCAGAAGCAAGGAAGGTAAGGGGGGGGGGGTCCCAGAATCTCAGGGTACCACAGTTATGGGGAATCCCAAGTGGGTGGGGAAGGAGCAGACAAAGGCCCGTTTCCCACGGGCACCCAGAACCCCCGAGAAAAGGGAGAGGGAGGCAGGGAAAGCCCATCCATCCCAAAGACCTGGGGGAGAGGGGGCGACAGGGCCAGAGAGTCTGCAGGCTCACCCAGGGGGTCCGTGGGCATCCCCGTGAAGATGACCCGGTACGTGGTGAGGAAGACGGCGCCCTCAGCTGGGAGCAATGCTGGTCCCCCAGCACTGCCCCCCGCGCCCTCCTCACGCCCATCCGGCAGCAGGTAGACGCGCAGGCCGTCCAGCACACACTCCTCACCCGGCAGCAGGCGCGGCCGCAGCAGCTTGGGCTGCTCGAAAACAAGAGCAGGAGCTCAGGATGCAGCCCGGGCCTTGGGCCCCCGCAGCCCCAACGGCCCCCGCAAACCTTCTGGATGGGCGGCAGCCTCCGGCTCTCCCGCTGCACGGCCTCCAGGGTCTCGATGTGCATCTGGACAATGTCTGGGGGAAGACAGTTCTCACACTTTGTGCCCAGCCCCACCCATCCAAGGGGGAATCACCAGCCCAAACCCCCGTACCTGGCACCATGACATGCAGCCCCTTGAGGTGGTCGCTGGTGACCCCACTCTCCGTGCAGACCTTGTCCACAAAGCGGTTGATGAAGCGGACCACAGCCCCAGCTACGTCGCAGGTCTCTGCATCCTCGAAGCCGCTCTCCGTGTCATAGCTCTCGGCCACACTGCCAGCCATGCTGGGCCAGAGAAGAAACTGTGGGCATGGGCCCTGCCCACCACGGCCCCGCCTCCACTGGGCCCAACCCCCAGTCCCTGCCTCACCTGTTGGTGACCAGGCTGTTGCTGGCGCTCTCCAGGTCGCCCAGCCCGGCACGCTCCCGAAGTAGGCGGCTCTTGCTGCTGTCCAGGGGCAGGAGGAGGTAGCTCATGCGGTTGGCATAGTGGATGGCCTGGCTGAACACCGTGCTCTCCTCCTTCTGCACCAGCTCCTGCTGCTTCTCACGACTCAGAGTTGGCCACAAGCGCCGCTGCTCAGAAGCCACGTCTAGGGCAGAGCGCTCGTTCCTGGGAAGGTGCCTCCCCAACCTCCTGCCACGGCACCACACGCATGAGCCGGGGCCACGCTGCCCCAGCCCCTAGCCCCCAGCCCCCAGCCCAGGGAGTCCCTGCGCACCTGGGCGGGGGCCAGGTCCTCCGTGGGCTCCAGGTAGAGGGCCCGGATGTGAGTCTGCACATCCCCATAGAACATGGCCTCCCAGAACTGTGGCGTGCTCCACACCACGTGCTCCTGCACACAGCTGTATGCAAACTGCGTCACCCCCGGGCTCAGCTTCTGCAGGAGCCAGGGGAGAAGGTCAGCTGGATGCAGCCAGGAAGGGCGGCTGGGAAGGAGACCTCGGCCACCAGGAAGGGGGGCTGGGAAGGAGACCTCAGCCACCAGGAAGGGGGGGCTGGGAAGGAGACCTCAGCCATGCCAGCACTCACCCGGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCCCTGGGGCAGCGTCAGCACTCACAAGGGTGAAGTGCAGCCTGGGTCTCCTCTGAAACCCGCTGCCCTGGCCCGGCTGGAGCCTGCACAGCCCTCACCTTCTTGGCCTCAAGCATTTTCCCCTCAAACACGTAGGAGATGCAGTTGCGCACAACCTCCAGCCGCCGGGCGCTGTTGACATGCAGCCCACTGCACCGCTCCAGTATGGCAGCTGCGGGGACAGAATACACACACTCGGACCCCTGACCCCACGCCCATCCTGNN	pathogenic	328,706
The mutation impacting SBF1 (SET binding factor 1) on chromosome 22 at position 50464920: benign or pathogenic? Name the associated disease(s) if pathogenic.	benign	GGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCCCTGGGGCAGCGTCAGCACTCACAAGGGTGAAGTGCAGCCTGGGTCTCCTCTGAAACCCGCTGCCCTGGCCCGGCTGGAGCCTGCACAGCCCTCACCTTCTTGGCCTCAAGCATTTTCCCCTCAAACACGTAGGAGATGCAGTTGCGCACAACCTCCAGCCGCCGGGCGCTGTTGACATGCAGCCCACTGCACCGCTCCAGTATGGCAGCTGCGGGGACAGAATACACACACTCGGACCCCTGACCCCACGCCCATCCTGGGCCACGCTCGGGGCCTGCCTTCCCCTCCCTCATTACGCACTCATGGGGGGCCCTGAGGGCACGGTGGTCCTCCTCTCGGCCTTCACAGCTGGGGGTGCACCCTGCATCTTGGCTGCAGCCTGGTCCACGATCCACTGCACGGTGCCCTCATCCAGCCGGGGGAAGGGTCGGGGCACCCGTCGCAGGTGGCTGCTCTCACCGGGCCTCTGTACCTTGTGCATCGCCACGGCTGGGTACGGGTTCTCCTGTGGGGAGACGGCAGGTGTGGGGCAGGGGCCCAGGGATCAAGGCGGTACGACGCCCTCCCGTCCTGCTACCCTCGTACGTTCTTGTAGAGCTGCTCTGCCAGTTCCTGGACGTGACGCAGGACACGCTGGGGGTGGTTCTCATCCGCCCGCATCCTTGCCACCTCGTGGGCCACCAGCTAGCGGGGTAAGCAGGAGGTTAGGTAAGCCATGGTCAGGCGGAGCCAGGGCAGGGGGCTGGGAGGGCAGGGTGGAGGTGCACCTCATCGAACAGGTCCGTAGGGCGGTATGGGACCCCACGCTCTGACACAAAGCCAGCAAAGGCCATGCCCTCCAGCACCTTCATCAGGAAATCGTCCTCTACCAGCCCACGCTGGCCCAGGAAGGCTGCCTGGATGACAGAAGGAGGTCGGTCCCTCAGGGGTCTCCACCATGCGCTTATCTCCTACCCCACGCCCAGCCACCAGGCACCCCACCTTATGGAAGCGGATGACAGGCTCCGGGTGGATGCGCACGACGTGCAGGCACCAGCGATAGCCCTGCAGCAGCTGAGCGAACAGCCGCAGGAAGACCGCGCGCAGCTCCTTGTCCTGGGAGAAGAGCTGAGTGCAGGTGAGAGCCAGTCCTGCCAATCCCCACCCCAGGCTGCCCAGGAGCTTCTCCACACCCCAACCCACCCCAAGCTGCCCCGCTCCCATCCTTCTGCCCCTCCCACCATTCTGCACTCAGGGCCACCAGCTCCTCTGAAACTGTCTGGACAAGGCACTCCTGGCTCAGCACCCTCAAGGGCTCCTGTGATCAGACGCCAAGTTCCAGCCCCTTGCTGGGCCCCTGCCGCCTCGCCTGCACCACTCACGACCACCACTCCTAACTGCTGGCAGCTGCTTTGCTCCCAGGCTCCTGCTTCTGCTACTGGAGCCGGGGCCAGCCTGGGGGTGGGGCCCTGTGTGTCAGTGGCAGCAGACCTGAGTGGGGGCAGCCTAAGTGCCTGGGGTCCCCATGCAGGAGCAGCAACGACCCCCACCTGCATCTTCAGGGAGGAGGTGGATGTCGTGGGCGGAGGGAAGGCGAGGTCAGCCAACTCCAGCTCCGGGTCCAGGACCTGCCAGCACAGAATGGAGCAGGCAGCTGCACGCTGGCCCCGGCTCTAGGCTCCCCGTGCTGCCAGGTAGCCACATCCCAAAGGCCCCCAAGGCTCCCGCTTGCCCATGGTGCCCCTCACCATGCTCAGCACACTGTGCGTCTGACTCTGCAGTGGCTCTGGCAAGGGTGGAATGTGCACACACTCAGGAATGGTGACCGTCCCTCCATCCAGATCAGCAACAATCACATCGAGCTGCGGACCAAGGGAGCCGGCAGTCAGGGACCTGCAGGCCTGGGCCGTGAGGTGGACACAAAGCACAGCCCTTACCAGCTCCTGGGTCTCTGCCTGGAAGGCCGCGTTGACCCCAATGATGAAGGGCGTGGGTGTGCTGAGGACCTCCAGCAGCTGAGCCGGCAGGATGGGCACATAGGTGAAGCTGTGCAGGCCCCAGAGGATGCAGTGAGCCAGGGGACGCGGCTGGGCAAAGGGGCCAGGAGAAGGGGCTGGGAGGGCCGGGCAGGGGTCACCTGTATCTGAGAGGAAACAGCAGTGCCAGGAGGCCCCTACAGGCATCGGCGAGCCGCTGGTAGCTCCGGGACAGGAAGAGAACCTTGTGCTCCGTGAGGGCGGCACAGAACAAAGACAGCACGTTGGTGATGCCTAAAGGAAGAAGAGAAGCTTGGAGAGGACCCTGGGCCCCCACCCAGGCAGAGTGAGAACCCACATCCCTAACTACCAGTCCCCGAGGGGAAGCCATGCGGGGGTGGGACAGACAGGCTCACCTAGCTGGCGGAAGAGCAGGGCCACGCTGCAGCGGCTGACGGGCAGCGAGTCGGCCAGTGGAGTCTGGATGACCTGCCGGTCACCAGCCCCCAAAGAGATCGTCCTCTGCAGCAAAAAAAGGATCGGGGCTCAGTAGTTTGGCCAGAGCCAGCCCAGAGTCAGCCCAGAGCTCTGTGTCCCCAGGCAGACCCTGGTGTACTGACAGACCCGAGGTGGGACTGGCTGGGATGGGCAACATGGCAAGAGGGAAACGCCATGCCCTGCCTCTGTTGTCCCAAGCAGCTGCAGAGAAAACTCAGGACAGGAGTGGCTGCTTTTGACTTGGGGGTAGGGATGGGGCCTAGGTGGGCGGAAGAAACAAA	GGCAGAAGGCTGTGACCAGAGGCAGCAGAGCCGCCGCAATGCCATGCTCGTCCAGAGAAGTGCAGTCCTGCAGGTAGAGCGAGAGACCGTCAGGACCTCTCCCCTCCCAGGCAGCACTCACCTCCCACCATGCCCCCACCACCCCATAACCACCACAGACCAGCACCTGACACCCTTGGCTCCAGCTCCCCAAGGCTGCCTCAGAGGCTCAATATCAGGAGACCCCAGGCCCCAGCACCTGCCCCCAACAATGGTTCTCTCCACCCTGTTCCCTGCAGACCGAGGACCCCTGCCCACTGGCACAGGAGTCTCTTGCACCGTCTCTCCACTCTCACTCACAGACCAGGGTCTGCCCGCCTGTTCCCGCTCATGCGCCATGAGCCATGTCACTAGCAGGATAAGAGGCCTCACCTGCAGGCAGCAGTTCATCATACGGACGACAAAGTCAAACTGCTGGTGGTCCAGGACCGCACGGTTCTGCTGCACATGCAGGTGCAGCTCCTGGGCGAGGCAGCGGCGGGCAGCTCGCCCCTTCAGGGCCCTCAACACGGCTGGGAGCAGCTGGGGGTGGGGAAAGGAGACACGGGCTGAGGGCACAGAGAAGACCCACTCGGGGCCCTGGCAGGGAGGGCAGCAGGTGTCCAGGAGACCCAAATGCCTTTCAGGTGGGGTGTGCCAGACTCTGGGGCTTTGCCGACCAATAAAGACTAAAACCTCCAGTGGGCCCGACAACTCCACAAGTACAAGTTCACCAGGCCAGACACAAGGACGCAGATGCTGCACCTGTGAGCTGGCAGGGAGGTGCGCTCCGGAGGGAGGCCTTGCGGGCCGGGCCCCCTTGCTCACAGGCTCACAGCTGCCTGGCTGGCTCAGTGACTCGCCTGGCACAGGCCCGGCCACAGAAAGCCTTGGAGTTTGCGTTCTATTGCTACAACGTTCATCACAAAACTGGCCGCCCCAAAGGGACACCATACAGCCAATGAAAAACAAGAGTCTCCAACTGGCCATGATGAAAGACCCCAGAGGCGTTAAGTGAGCACCACAGAGAGCAAAACAGCAGGAGCAAAAAGCTCTGTTTCCATAAGATGCAAGGAACAGGTCACGTATGGAGGGAGCAAGCTCTGTTTTCCATCAAGTACAAAGAACAGGTCGTGTATGGGCCTACCCAATTTAAGGGGAAGGACACAGACGAAACATAATAGTGAAACCTTCTGATTTCTAAAAATGGAAGTACATCTCCCTGGCTGGGTCTCCCGCGCAGGCCCGACCCACCCCTCACTGAGGTCAAGAGAGGAGACCTGGAGCCCACCTACCCTCCGGCCAGCCCAGCCACCTCTAGCTGTCTGTTAGGCAGAGGAGGCCCTGGGGCAGCGTCAGCACTCACAAGGGTGAAGTGCAGCCTGGGTCTCCTCTGAAACCCGCTGCCCTGGCCCGGCTGGAGCCTGCACAGCCCTCACCTTCTTGGCCTCAAGCATTTTCCCCTCAAACACGTAGGAGATGCAGTTGCGCACAACCTCCAGCCGCCGGGCGCTGTTGACATGCAGCCCACTGCACCGCTCCAGTATGGCAGCTGCGGGGACAGAATACACACACTCGGACCCCTGACCCCACGCCCATCCTGGGCCACGCTCGGGGCCTGCCTTCCCCTCCCTCATTACGCACTCATGGGGGGCCCTGAGGGCACGGTGGTCCTCCTCTCGGCCTTCACAGCTGGGGGTGCACCCTGCATCTTGGCTGCAGCCTGGTCCACGATCCACTGCACGGTGCCCTCATCCAGCCGGGGGAAGGGTCGGGGCACCCGTCGCAGGTGGCTGCTCTCACCGGGCCTCTGTACCTTGTGCATCGCCACGGCTGGGTACGGGTTCTCCTGTGGGGAGACGGCAGGTGTGGGGCAGGGGCCCAGGGATCAAGGCGGTACGACGCCCTCCCGTCCTGCTACCCTCGTACGTTCTTGTAGAGCTGCTCTGCCAGTTCCTGGACGTGACGCAGGACACGCTGGGGGTGGTTCTCATCCGCCCGCATCCTTGCCACCTCGTGGGCCACCAGCTAGGCGGGGTAAGCAGGAGGTTAGGTAAGCCATGGTCAGGCGGAGCCAGGGCAGGGGGCTGGGAGGGCAGGGTGGAGGTGCACCTCATCGAACAGGTCCGTAGGGCGGTATGGGACCCCACGCTCTGACACAAAGCCAGCAAAGGCCATGCCCTCCAGCACCTTCATCAGGAAATCGTCCTCTACCAGCCCACGCTGGCCCAGGAAGGCTGCCTGGATGACAGAAGGAGGTCGGTCCCTCAGGGGTCTCCACCATGCGCTTATCTCCTACCCCACGCCCAGCCACCAGGCACCCCACCTTATGGAAGCGGATGACAGGCTCCGGGTGGATGCGCACGACGTGCAGGCACCAGCGATAGCCCTGCAGCAGCTGAGCGAACAGCCGCAGGAAGACCGCGCGCAGCTCCTTGTCCTGGGAGAAGAGCTGAGTGCAGGTGAGAGCCAGTCCTGCCAATCCCCACCCCAGGCTGCCCAGGAGCTTCTCCACACCCCAACCCACCCCAAGCTGCCCCGCTCCCATCCTTCTGCCCCTCCCACCATTCTGCACTCAGGGCCACCAGCTCCTCTGAAACTGTCTGGACAAGGCACTCCTGGCTCAGCACCCTCAAGGGCTCCTGTGATCAGACGCCAAGTTCCAGCCCCTTGCTGGGCCCCTGCCGCCTCGCCTGCACCACTCACGACCACCACTCCTAACTGCTGGCAGCTGCTTTGCTCCCAGGCTCCTGCTTCTGCTACTGGAGCCGGGGCCAGCCTGGGGGTGGGGCCCTGTGTGTCAGTGGCAGCAGACCTGAGTGGGGGCAGCCTAAGTGCCTGGGGTCCCCATGCAGGAGCAGCAACGACCCCCACCTGCATCTTCAGGGAGGAGGTGGATGTCGTGGGCGGAGGGAAGGCGAGGTCAGCCAACTCCAGCTCCGGGTCCAGGACCTGCCAGCACAGAATGGAGCAGGCAGCTGCACGCTGGCCCCGGCTCTAGGCTCCCCGTGCTGCCAGGTAGCCACATCCCAAAGGCCCCCAAGGCTCCCGCTTGCCCATGGTGCCCCTCACCATGCTCAGCACACTGTGCGTCTGACTCTGCAGTGGCTCTGGCAAGGGTGGAATGTGCACACACTCAGGAATGGTGACCGTCCCTCCATCCAGATCAGCAACAATCACATCGAGCTGCGGACCAAGGGAGCCGGCAGTCAGGGACCTGCAGGCCTGGGCCGTGAGGTGGACACAAAGCACAGCCCTTACCAGCTCCTGGGTCTCTGCCTGGAAGGCCGCGTTGACCCCAATGATGAAGGGCGTGGGTGTGCTGAGGACCTCCAGCAGCTGAGCCGGCAGGATGGGCACATAGGTGAAGCTGTGCAGGCCCCAGAGGATGCAGTGAGCCAGGGGACGCGGCTGGGCAAAGGGGCCAGGAGAAGGGGCTGGGAGGGCCGGGCAGGGGTCACCTGTATCTGAGAGGAAACAGCAGTGCCAGGAGGCCCCTACAGGCATCGGCGAGCCGCTGGTAGCTCCGGGACAGGAAGAGAACCTTGTGCTCCGTGAGGGCGGCACAGAACAAAGACAGCACGTTGGTGATGCCTAAAGGAAGAAGAGAAGCTTGGAGAGGACCCTGGGCCCCCACCCAGGCAGAGTGAGAACCCACATCCCTAACTACCAGTCCCCGAGGGGAAGCCATGCGGGGGTGGGACAGACAGGCTCACCTAGCTGGCGGAAGAGCAGGGCCACGCTGCAGCGGCTGACGGGCAGCGAGTCGGCCAGTGGAGTCTGGATGACCTGCCGGTCACCAGCCCCCAAAGAGATCGTCCTCTGCAGCAAAAAAAGGATCGGGGCTCAGTAGTTTGGCCAGAGCCAGCCCAGAGTCAGCCCAGAGCTCTGTGTCCCCAGGCAGACCCTGGTGTACTGACAGACCCGAGGTGGGACTGGCTGGGATGGGCAACATGGCAAGAGGGAAACGCCATGCCCTGCCTCTGTTGTCCCAAGCAGCTGCAGAGAAAACTCAGGACAGGAGTGGCTGCTTTTGACTTGGGGGTAGGGATGGGGCCTAGGTGGGCGGAAGAAACAA	benign	328,735
Does the variant on chromosome 22 at location 50523655 affecting gene SCO2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic	AAGGTAATTGGGTGGAAGGTACCTCCACTCAGGTACCCCTGGCTGGGTTTCCTGGGGCATGAGGTGGGGGGGTGGGAGTGGGCTTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCC	AAGGTAATTGGGTGGAAGGTACCTCCACTCAGGTACCCCTGGCTGGGTTTCCTGGGGCATGAGGTGGGGGGGTGGGAGTGGGCTTTGCACCCTGATCCCCCAGCGGCTCTAAGACAGTCCCTGTTTGCCCCCAGGTAGGCCTTACTCTGTGCCCCCCTGTGTGGAGGAGGCTCTGGGACAGAAGCGCAAGAGGAAGGGCGCTGCCAAGCTGCAGGACTTCCACCAGTGGTACCTGGCTGCCTGTGAGTGGGTGTGGTGTGCACTCCGGACCACTGGGAGCTGGGGGCTGGGCCAGGGCCAGTGGAGGAGGATCAGCACCCTTTTCCCAATGCTGTGGGCAGCTCTTGGCCTGGCTGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGA	pathogenic	328,792
Variant on chromosome 22, at position 50524009, affecting SCO2: is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1', 'Myopia_6']	TGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGG	TGGTGCTGAGCATGTTCTTTCACAGATGCAGACCATGCCGACAGCAGGCGGCTTCGGCGAAAGGGTCCGTCCTTTGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGNN	pathogenic	328,804
Gene SCO2 variant at chromosome 22, position 50524083—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1']	TGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAG	TGCAGGTGAGGCTGAAGTCCTCGGGGAAGACAGTTTTACTCTCCTTCCCCTACCTCTTCCCCCACCTGGTGTCACCCAAAGCCTTGGGTGGACTGGCACGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGNN	pathogenic	328,807
The mutation impacting SCO2 on chromosome 22 at position 50524181: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1']	CGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGG	CGGGGCCTGGGAAGGACGAGGGAGCCCTCACAAGGCCTTTGTCTGCAGACATGGAGGTCCTGTACTGGACACACGTGAAGGAGCAGTTGGAAACTCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGNNNN	pathogenic	328,813
Variant at chromosome 22, position 50524275, gene SCO2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1']	TCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAG	TCTCCGGAAGCTGCAGAGGAGGGAGGCAAGTCCCAGCTGGTCAGCTGTGATCTAGGACCCCGTGGTGGCCCTGATGGGAGGTGACAGTGCCCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGNN	pathogenic	328,816
Mutation at chromosome 22, position 50524365, within SCO2: benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1']	CCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCG	CCCTCACAGATGCTTTCTCTGGACAGGTGGCTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGNN	pathogenic	328,818
Variant at chromosome 22, position 50524395, gene SCO2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Cardioencephalomyopathy,_fatal_infantile,_due_to_cytochrome_c_oxidase_deficiency_1', 'Myopia_6', 'Primary_dilated_cardiomyopathy']	CTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTC	CTGAGCAGTGGCTGCGGCCTGCAGAGGAGGACCACCTGGAGGATTCCCTGGAAGACCTGGGGGCAGCAGGTGGGTGCCTGCCAGGGGGTGGGGTGGGGCTTGGCACCTGCCGACTAGCTGCCTGCGTGCTGTTCACTCTCCCACCTCCCAGCAGATGACTTTCTAGAGCCTGAGGAGTACATGGAGCCCGAGGGAGCAGACCCCAGGGAAGCCGCTGACCTTGGTAGGTGGGCAGCGGGCTAGGAGTGCTGAGGGGCCACTGGAGCTGGGGGCAGGGGAGAGCGTGGCCCCTTAGCTGCCCAGCTCACAGCTACCCCTTCCCAGACGCAGTGCCGATGTCCCTGAGCTACGAGGAGCTGGTTCGAAGGAATGTGGTAGGCCTGGGTTAGAGGGAGACGGGGAGGGGAGGGGGACAGGTGAGCGGTGCCCAGGCCCCTGCTTGGGAGGCAGTAGCTCCTGCTGATCCTCCCCTAGGAGCTCTTCATCGCCACCTCCCAGAAGTTTGTCCAGGAGACAGAGCTGAGCCAGCGCATCAGGGACTGGGAGGACACAGTGCAGCCTCTGCTCCAGGAGCAGGTGAGGCGGGGCCGCTGGGAACCAGAGCTGTGTGCCACGGGTCTGTCCAGGGCCTTGCCTCTCTCCGCAGCCAACATGCCCCTCCCCTGTGCAGGAGCAGCATGTGCCCTTTGACATCCACACCTATGGGGACCAGCTGGTCTCACGGTTCCCCCAGCTCAATGAGTGGTGTCCCTTTGCGGAGCTGGTGGCTGGCCAGCCGGCCTTCGAGGTGTGTCGTTCCATGCTGGCCTCCCTGCAGCTGGTGAGTAGCCTGGGATACGTGGGAGGGGGAGACGGTCCCCAGACCCTGCTGATGTGCCACCCCTGCAGGCCAATGACTACACAGTGGAGATAACCCAGCAGCCCGGGCTGGAGATGGCCGTGGACACCATGTCCCTGAGACTGCTCACGCACCAGCGAGCGCACAAGCGCTTCCAGACCTACGCTGCCCCCTCCATGGCCCAGCCCTGAGTGGGGAGCACCGAGGCAGGGGTGGGGGAATGTGTACTGAGGAGCCGTGTGTCTGCTCCTGGCTGGCCCGGCCTAATAAAGCAGTGTTGCCATCTCATCTTCCCCCTAAAAACCCTTTTATGTACACCTGCGCAGAGAAGAGGGCTGCCTGGCCTCCCTGGGCCGCTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCTGAGTCACTGCTGCATGCTGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGC	pathogenic	328,819
The mutation impacting TYMP on chromosome 22 at position 50525589: benign or pathogenic? Name the associated disease(s) if pathogenic.	benign	CTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGC	CTGGTACAGATCACACACACACACAGATTAAACGCAGCCCGTTTAATGATGGGGCCCAGACTGCAGTGGCTCAAGACAGGACACTGCGGAAAGCCGCCATGTGCCGCCGCACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGTTGAGCAGGTAGATGGCAATGGAGTGGTCCACGATGTAGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGG	benign	328,822
Is the genetic mutation found on chromosome 22 at position 50525802, within the gene TYMP, considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1']	AGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTC	AGTCCTGGTCCTCATCCTTGGGGCCTGCATTGTAGTACACGCGGTAACTGTGACTAGCCTGGGCAACCTGTTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCN	pathogenic	328,824
A genetic alteration at chromosome 22, position 50525872, in gene TYMP—benign or pathogenic? If pathogenic, which disease(s) is involved?	pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1']	TTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGT	TTTGGTGGAGCCGGTCAGACCCAACAGTCTTGGGTGGAAGTCCTGGACGTAGCGGGCCATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTNNNNNNNNNNNNNNNNNNNN	pathogenic	328,830
Regarding the variant at chromosome 22 and position 50525929, affecting gene TYMP: benign or pathogenic? If pathogenic, what are the associated illness(es)?	benign	CATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTC	CATGGCTTCAACGTCGTCCCGCTCGGGGTCCACAGTGATGAAGACAGGCTGCACTGGAGGCAAACCAGGCTCTGCTTCCAGCTGCCGCACCACCTGCACCAGCTTCTCCAGCTCGTCTGGGCAGATGTCAGGGCAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTT	benign	328,831
Is chromosome 22, position 50526097, gene TYMP variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1']	GCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCT	GCCCCGGAAGTCAGCCTTGCAGCGAGCCCGGCCTCTGTGATCCAGCAGGTGGAAGTCGCCCTGGCCCACAGCTGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGGGCCAGCCAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTNNNNNN	pathogenic	328,837
A mutation at chromosome position 50526251 on chromosome 22 in gene TYMP: benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['TYMP-related_disorder']	CCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGC	CCAGCCCCGAACAGGCCTGTGATCAGCAGCCGGGTTCGAAGCCCAGGGCCCTGGGGCTGGCCCTGCCCACCTGTCTCTGCAGGGCCCTGCCTTGACAAAAGCCAGGACCTCAGATGCAGGGCCTGGCCTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCNNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	328,845
Variant chromosome 22, position 50526378, gene TYMP: benign or pathogenic? Disease(s)?	pathogenic	CTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCT	CTCCCAGGGTCCCAGGGAGGACCCGAGGCTTGAGCTGAGAGAGCCTGTGCCAAGCTGTGGGGCTCCGAGTCAGCAGCAGCATGGATCTGATGCTCCTGGAAACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	328,851
Is chromosome 22, position 50526478, gene TYMP variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	benign	AACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCT	AACAAGCACAGGCGTCAGGAGCCAGAAGGGAAGGCCCAGGACAGTGCCTGGGCTGCCCCTGCGACTTGAGACCAGCCACCCATCTGAAGGACCCAGCCCACGTTCAGGCTTAACAGGCATTTGCAGCTGCTCACCTGAGCTCAGAACTCCACCTCCACCAAACATCCACACCTGGGCAACCACACCTGTCACTCCTGTCCTCTACCTGGGATCACCAGCCTGTCACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTNNNN	benign	328,855
Evaluate the clinical significance of the mutation at chromosome 22, position 50526702 in gene TYMP (thymidine phosphorylase): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1']	ACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAA	ACCGCACCCTGCCCTGCACCTGCACCTCAGCAAGGTGAACCTCTTGCTGACGGAAAGCATTCCAAGTGCATGCCTTGCCTGAACTAACCACGTTATCTATTTGCAATAAACCCATTTCTTAAAAGGAGGTGGGTAACTCTCTGGCTTGCAATCCCCGAGAGCAACCGATTCCTCCAACACTTTCCTGTTACCTCCAGCCACTTCAACCAACCGCGGCCTTCCTCCACACTCCCAGCAGAAAACCTGCACGACCTACCCCCGGAGCTCAGACTCTGCCCGCCGGCTGTGTTTAACCTCTCCTGGCAGAGACGCACGACACTTCCACCCGCCACAAAACCCCACCCTCCTCACATCCAGGCTTCCCAGCAGCTCCTCCGGGCTCACAGCCGACGCCCTGCCTTTGCGTTGGTGACCTTTGAGCCTTTCCCACGGGCCCCCGCAGAAGGTTTGCTAGGTGGAGGTCTCAGGACTCCCGGTCACTGCCCCCTCCTGCTGAGGGCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAG	pathogenic	328,862
The mutation impacting TYMP (thymidine phosphorylase) on chromosome 22 at position 50527200: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1']	GCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCC	GCACCCTCCCGAGGACTCACTGCACCCCCGCCCGGGCGGTTCTGGGTTTGTGCCCTCCCCAGCAAGGCCAGCGCCCTCGTGGCCAGAAAGGTTCCAGGACCACTCGAAGCGCCGCGCGAGCGCGTTATAACTGTGCTTGGCCGCGAGAACACCGGTGCCTGCTGGGAGCCTCCCACGGGCGCCCCAGCCTCGCTCCGGCCTCCAGCGCGCCCTGGGGTGTGCCCCGCCAGCCCCGCGCAGTAGCCGGAGCTGGGAAACTACCCCGGAGTCCAGCGAGTCCTCAGGGCTACCTCCTCCCCTCCCAGCCCCGGCGTCCGCACCTCGCGGCGGGGCCGCGCGTCAGTGGACCAAGCACGAGAGGAAGCGCCGACCTCCAGCTCCCTGCGCTCTGCCCCGCCGGCTCAGGGAAAGCGGGCGCCACACGCTCACAGGCAGGGCGCAGGCGTCCCCGGAGCTGCGCATGCGCACACGGGCGCAGCCGCTGACAGGCTCTCAGCGCGTGCGCGGAAGGCGGAGCCCGCCGGGGGTCACGTGTTCATCGAGACGGCCCCCGCCTCCGCAGCCCTGGATCCTTCCGCTCCCGCCCAAGCACTGACAAGGTTTCGCGGCAAAGGAGCTTTATTGCTGCGGCGGCAGAACGAGCTCTGCGAAGGGCGAGGGGGCGGCGAATGGCGCGCGGTCGGAGAGTACGAGCGCCTCCTGCAGGGCGCGGCTCTGCGGGCCGCTGAGCGCGGGGCCGTCCCGGTGCACGCGGAGCCAGGGGGTCCCTGCAGAGCGAGGGGCTGTTAGAGGCCGCGCGGCCGGAGCTGGGCGGGGGTGCGGGGCCAGCAGGGCGGGGGCGGCGCTCACCACGGCGCAGCCTCTGACCCACGTCGACCAGCAGCTCTGCGCCCACCCCCAGGCGGAGCGGCTCCCCAGCGCGGCTGCGCCCGGCCCCGAGCTCGTGCAGCACCAGCGCCAGCGGCAGCGCCCGGACCAGCTCCACGGTGCCTGCGGGGAGAGGGGCTGAGAGGCGCGGGCTCGGGAAGGGGCGGGGCCTCGGGAAGGGAAGGGGATGGCGGAGGCGGAAGGACGGGGACTCCCCCGACGCTCACCATCTGCGGGCGCCAGCAGCTCCTCCTGCTCCCGGGCGCGAGGCAGCAGCTGCCGGCGTTCTGCGGGACTTCCCGAGCACAGGGCTCGGGCCAGACCGGGATCCACGCCCTGCGCCGCCAGCATCCGCTCGAAGCGGCCAAGGGCCGAGCCGTCGTCCAGCGCCGCGGCCACCCGGGCAGCGCCCTGGGCCTGAGTCCCCGCGTGTCCGCTGAGCCAGAGCAGGGCGCCCCCTGCGGGCGGGGACGGGTCTTAGGCGCGGCCGGGTCGGGGCGGCCCCAGCGGGAAGCACCCCCCGCCGCCTCCGCTCCCCTACACCCCGTCCCCCTCACCGAGCGTGGTGACCAGGTCCCTTAAGTCTGGCGGGCCTGCGCCGTCCATGCAGAGCAGCGCCTCCTCCACCTCCAGGGCGTGGCCCACGCAGCGACCCAGGGGCTTGTCCATGGCGGTCAGCGCTGCCGCGACCCGAAGCCCTAGGCTGGCTCCCACGCCAACCTGCGGAGAGGAGGCTCAGCGTGGACCCCCCATGGCGGGGCCTTCTGCAGCCGGTTCTTGGTCGAACTCCAGCCCCTGCTGCACCCTGGGTTGCCAGCCCCCCAGCATGAAGTCAGGGAAGGATTGGGGTGGGGAAGAGACACGAGTGAAGTGCGACACCTCGCCATGGGGCCAGGAGGAACTTGTACTTGGTCTGGGGCAGGAACGCCACAGAGGGCTTCCCCAGGTCCAGGCCGGGCCAGCCTTGACCTCTAAAGTCACAGCAGGTTAGGAAGCCGTGAAGGAGGGAGGGACTTCGGGCAGAAGAGGGTGGGACTGGGGTTAGGCAGGACTGCTGAGTGGAGGGAGGCAGTGGGGACGGGAGGGGTGAAGGGTAGGCTGGGCCCGCATCAAGACGCTTGCCCAGGGAAAGGCCACACCGCTCACCAGCGTCTTTGCCAGCTCCCGGGCCTGCTCCTGGTTGGGAAGACGGCGGCCCCTCCGAACTTAACGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCN	pathogenic	328,867
Chromosome 22, position 50529278, gene TYMP: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic	CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCT	CGTCCACCACCAGAGCGGACAGCCCCTCCACGAGTTTCTTACTGAGAATGGAGGCTTTGGGGGAGGCAGAGGAGGTTGGAGACAATGGAGAACCTGGAGCTTCTTGGGAGAGTTCGGGGATGCCGACTTTGGGGTCAGGGGCCCTGAGCATTGAGGGTCAAGTCCCTTATTATGGGGGTGGCAGCACCTGGTGGGTTGAGTATCAGGCCACCCCACATGGTGGTGGTCAGGCATCTTGTGATGGGGGTAGGGGGGCACACGGTCAGGTGACGGGTAACTCCTAACGAGAGGCCCTTGACTTGAGTTTGGAGGTCAGGAGCCTGTGAACATGCAGAAGCAGGCCATGGAGTCAGGTCACCTGTGATGAGTGGCAGGCTGTCCACGGTGGCTGTCACATCTCTGGCTGCATATAGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTN	pathogenic	328,893
Classify the chromosome 22 variant at position 50529689 affecting gene TYMP (thymidine phosphorylase) as benign or pathogenic. If pathogenic, which disease(s) is associated?	pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1']	AGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGCCGTAGATGGAGTAGGCGGGGGCGCCGTCGGTGCCGCGCACGGTCATGCGAGCGGGCACCAGGTGGCCTGGCCCGGGGCCGCACGTCGTCTGCTGCGTGGGGAAGCGCGCGCCGAAGGTGAAGGCG	AGGATTCCGTCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGCCGTAGATGGAGTAGGCGGGGGCGCCGTCGGTGCCGCGCACGGTCATGCGAGCGGGCACCAGGTGGCCTGGCCCGGGGCCGCACGTCGTCTGCTGCGTGGGGAAGCGCGCGCCGAAGGTGAAGGCGN	pathogenic	328,904
Evaluate if the mutation on chromosome 22 at position 50529698 in TYMP (thymidine phosphorylase) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Mitochondrial_DNA_depletion_syndrome_1']	TCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGCCGTAGATGGAGTAGGCGGGGGCGCCGTCGGTGCCGCGCACGGTCATGCGAGCGGGCACCAGGTGGCCTGGCCCGGGGCCGCACGTCGTCTGCTGCGTGGGGAAGCGCGCGCCGAAGGTGAAGGCGGGGGCGCGC	TCCGCAGGAACCAGCTGCTCACTCTGACCCACGATACAGCAGCCCGCCTGGTCCAGCAGCACTTGCATCTGGTCAGACATCCCCTGTTCTCAGTGACTTATGGTAAATGACTTAGCAGCTTTTTTTTTTTTTTTTTTTTTTTCTGTGAAGAGTCTTCCTCTGTTGCCCAGGCTGGAGTGCAGTTGGCACAATTTCGGCTCATTGTGACCTCTGCCTCCTGGGCTTAAGTGATCCTCCCACCTCAGCTTCCCAGTAGCTGGGACTACAGGTGCGCACCACCACACGCGGCTTTTTTTTTTCTTCTTTTTTTTGTAGAGATCAAGTTTCACTATATTACCCAGGCTGATCTCCAACTGGGCTCCTCTGCCTCCCAGAGTGCTGGGACAGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCATCGTCCCGGCTCACTGCAGCCTAGACCTCCCAGGCTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGTAGCTGGAACCACATGCGTGCACCACCACACGCAGCGAACTATTTTGTAGAGATGGGGTTTTGCCGTGTTATCCAGGCTGGTTTTGAACTCCTGGGTTCAAGGGATCTGCCCTCTTCGGCCTCCCCAAGTGCTAGGACTACAGGTGTGAGCCACCGTGCCCCGCCAGCCATCTGTGATTTTGACCAACTTCCCATTTTATGATCCTAATCAAAGTTCCACTGATGATTTCGGCCCAGGCCCAGTGACTCATGAGTAACCTTGACCAGTGTTCTCATTAGTGACCCTAATGATCCACCAGTGATCTTTTAGTGATTCTGGCCAGGGTCTCCATCATCAACCTGGATTAATGACTGATCCGTGGCGCCCCGTACCTGCTCTGGGCTCTGGATGACATTGAATCCAGGAATAGACTCCAGCTTATCCAAGGTGCCTCCTGTGTGCCCCAGACCACGTCCGCTGATCATTGGCACCTGGTGGTCAGGGATGCTGAGTACCCTGCACAGTACCCCTCCCCCACCTCTGTGCATCCCTTCACCTTCCCTGGCTAGGAGTGCAGCTGGATTTGGAAAGTATTTAAGCAGCTATAGGGGTGCCCAGCTGGTGAGGGAATGGAAAGGAAGTTTTCTTGGTTGAGAAGTGTCAGTAGGGGAGGAGGTTGGTACCTGTCCTTGGGGAAACAAGGCTTGGGGCAGAGGGAGGAAAGTCCTCAGCTCCTCCCTTGGGGGAGCTGTCTGGGGACCCAAGGGGAAAGGGGTCTGAATTCCATCAGTGGATCTTTTTCCTGCTCCAAGGGGCCTGGTCTGGAGCCAGAGGGGCCCCAAGCGCTGTGCTGGGGAACGGGGTGGGGAGAACTGTGCTGGGGAGCAGGGTGGGGAGAAGCCTTGGTAGGGTCTTGGAGGCTTTGGGCCAGGCTTGAGGTTGGGAGCTGCCTGTGGATGGACTGGTTGCTGCATGTGCGGTATAGGCTCCCGTCTGGAAAGGAGGTGGTTTCTAACCTTGCAGCCACATGCCGCCAGGGCAGGTGCGAGGACCAGGCTGACCTTGTCACCCACACCCCCTGTGGAATGCTTGTCCACAAGCTGCTGGCGCCAGGCCTCTGGCCACTCCAGCTGCTGTCCCGACTGAGCCAGGGCCTGGGTCAGCACCGAGGTCTCCTCCAGATCCATGCCCCGAAGTCGGATGGCCATCAGCATGGCCCCTGGTATGTGGGGGTACGCGTGAGGGTGGCAGCCCACAGCGGTGGGGCACCCTGGGGCCGGTGCTGGTAGTGGGGCACCGTCGCACCCCCAGGGACCCAAAGTCTCTCGGGCTGACCTCCCAGTCGGGGTCAGGAACGCCCAACCCTCCCCACGCACCGATCTGTGCGCCCTGCGCGCTCCCATTCACCACAGCGGCCACGAAGCCCCTGATGTCCGCTTCGCTCAGGCGGCCTCCGTCTCGCTTCATGCGGATCAGCTCCGGGAGCTGCTTGGGCTCTGGCGAAGGGTCGGGAAGTCCCTGGCTCCCTTCCCCGGAGAAGTCACCAGGCGCGGGTGGGGCCCCGGTTCCCGGGGTCATCAGGCTGCCATCGCTCCGGGCCTGCGGGGATGCCTGACACGTCCGGGGTCTGCGGCCTCCCGGCGTCGGTGTCTGAGCCACGTGCTCCTGTCCCGACCCCTTTCCCGTGTCTCTCCGGTGTCCGCCCCTCGGTCCCGTGTCTGTGTCGCCCTCGTCCGTGTCTGCCTCCCGCTTCCCCGCCTCGCGACTTGAGCCCCGCCCGTACCTGCTTAGGGCGCTGCCCTCGCCCGCTTGCTCCGGATCCCAGCCCAGGTACCCGGCCTCGCCCGCGGGTCGGGACCGTAGGGTTCAGGGTTCGCGCACAGCGGTCCACTGCCGGCGGCGGGGCGGCGGCGCCCCAGGACGGCAGGCGGGTGGGGCCGCCTGGAGGGCGGAGCTCGGCAGTCGCCGCCCCCGGGAAGCCTTGCACGCCGCGCCCCGGCCAATCCCCCGGTGCCCCCGGACACGCGGAACTTCCGGGCCGTCGGGGCCCGGGGCCGTCGGCGGGGGTGATCCCTGGCCGGTCCCGCCCGGCGTGGGTCTCGGGCGTCTGTGGCTCCCGAGAGTCCCCCTCCCGCCCTCGGTGGGGTCTCGACGTTCGGACGCGGCGCAGCGCTGGGGTCCCGGCCTCGCCCGACGCTCGGGCCCCGCCCCGCTGGGTTCGGAGTTGGGACACGGCCCCAGCCGTGGCTCCACCCCAGGCCTTGCGCCAGGACGCGCAGAGAGAGAGAGAGAGAGGCGGACACGATGCGGACTCGCAGACTTTAAGCAAACACGTGTGGGGCCGCTCCCGCCTGGCGGGTCAGTTGTCCGCGTCGGTCACCAGCGGGGCCAGGTAGTCCGAGTGCCGGATCCCGAAACTCCAGCCGCGGGGCTTCCGGTGCTGCGGGCCCGGAGACACCGCTGACCTCGCGGGGCCGGCATCCTCTCCGCGCCGGGACCCCTGGACCCCCGGGGACTCTGATCCCATCACTCCGACCTCAGGCCCTCCCCACTCTCCTGACTCTGACCCTTGACCCTGGGCTCCAGGCCACCTGATCCACGTTGTAGGCCGCGGGCCCTGGCTTCCGAGTGTTGTCTTGGGGGAGCGAAGTCCGCGCCAGAATCGTGAACTGGGGGGCCCGGGACTTGTAGACCCCTGGACTCACGACCTGATAGGCGCAGGGGCCCGGGGTCTGCGAGAGGGCAGAGGGTGCTGGCTGCCGCCTCCACTGCCGCGGACCAGGGACCCCCTGCGTCCGCCCCGGCCCCTCCCCCACCTTGCTGAGGTCCTCGAAGAAACTGCCAGCCGCTCTGCGGCCGTAGATGGAGCAAGTTGGGGCGGAGACTTTGCCGATGACGCGCGGACCCAAGAGCGAGGGCACCGTATAGGCCGCGGGACCTGGGGAGGAGGCAGGGCTCGGGGGTAGTGGGTCTCCGCGGACAGGCGCAGGGTGGTCCCAGCTCCCGGAGGGCGGTCCCCGGTCTCGAGTGGGAAGGCCCACAGTTCTGGGATGGGCCGTTCTGACCTCACCTGGGCTCTGCTGTTCCGCCTGGACACCCCAGTTTCGGGGAGCAATGGTGTGCCGAGGCGCACTGGGGTACGTCGCGTTCCCCGCTCGCTCCGGGAAGTACCTGCCTGCGGGGCGGATCAAGGGTGTGGGGGGCTAGAACTGCGTGGGAGCCTGGTGGGTACCCGAGATGGGGTCCTGGGACTAGTGGGGAGTCTGAGCCACGATTTATCAAAGCCCCGTGGGGTTCGGGGTTTGGGATTTGAGATCCGGATATGGGGGTACCGAATATGCGGTGTTAGGGTATCCGAGGGGGACTCGGGGTTCAGGTCGGGGGTTCCCAGGTGGGCCTCCCTGGAGGCAGTTCGGCGTTGGGGTGGCCAGGGGCCCGGGGGTCCTGACCAGGTCCCGGAGTGAGGAAGGGCGCTGAGCGGCGTGGGCGGCCGTAGATGGAGTAGGCGGGGGCGCCGTCGGTGCCGCGCACGGTCATGCGAGCGGGCACCAGGTGGCCTGGCCCGGGGCCGCACGTCGTCTGCTGCGTGGGGAAGCGCGCGCCGAAGGTGAAGGCGGGGGCGCGCN	pathogenic	328,905
The mutation impacting ARSA (arylsulfatase A) on chromosome 22 at position 50625182: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Metachromatic_leukodystrophy']	GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCC	GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGC	pathogenic	328,960
Clinical classification of chromosome 22, position 50625182, gene ARSA (arylsulfatase A): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Metachromatic_leukodystrophy']	GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCC	GGCCAACACTGAGGGAGCACCTGGCGTGTGACTGGCCACCTGGGCATGCACGTGGGCCTGACGTCAGTGTGCCATGCTGCACAGACACGGGCAGGTGCTCAGACAGTCCCTCCCTGCAGAGGAGGCCAACAATGGAGGCAGAGCGTTGCCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAA	pathogenic	328,961
Does the variant on chromosome 22 at location 50625330 affecting gene ARSA (arylsulfatase A) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Metachromatic_leukodystrophy']	CCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAA	CCGTTGAAGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGA	pathogenic	328,965
Variant at chromosome 22, position 50625337, gene ARSA (arylsulfatase A): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Metachromatic_leukodystrophy']	AGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAG	AGGGAACAGCCAGGCCACCCCCTAAGACTGGGGGGAAGGGGGTGTGGGTGGAGGCCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGN	pathogenic	328,966
Regarding the variant found on chromosome 22 at position 50625391 in gene ARSA (arylsulfatase A): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Metachromatic_leukodystrophy']	CCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAG	CCTCAAGGGCAAACTGGGTCACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGAC	pathogenic	328,968
The genetic variant at chromosome 22, position 50625410, affecting gene ARSA (arylsulfatase A): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Metachromatic_leukodystrophy']	CACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCC	CACTGTAAGGGGTTTGGATTTTCTTCTGAGAAGCCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCN	pathogenic	328,971
Determine whether the variant at chromosome 22, position 50625443, in gene ARSA (arylsulfatase A) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Metachromatic_leukodystrophy']	CCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCC	CCTGCGAAATTTTGAGCAGGAATAGATGCTCAAGCCCAGCCTGATGTTTTATTTGTTTATTTGCAGACAGGGTCTCACTCTGTCCCCGAGGCTGGAGTGCAGTGGTACAATTATAGCTCACTACAGCCTCGACCTAGTGGGCTGAAGTGATTCTCCCACCTCAACCTCCCAAATTGCTAGGACAAATGCTACCACGCCTGGCTAATTAAAACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCNNNNNNNNN	pathogenic	328,973
The genetic variant at chromosome 22, position 50625652, affecting gene ARSA (arylsulfatase A): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Metachromatic_leukodystrophy']	AACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATC	AACAAATATTGTTGGCCAGGTGTGGTGGTTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAATCTTGTCTCTATTAAATAAAAAAAAATTAGCTGGGCATGGCAGCACACACCTGTAGTTCCAGCTACTAGGGAGGCTGAGGCAGGAGAATCCCTGGAACCCGGGAGGCGGAGGTTGCAGTGAGCGGAGATGGTACCACTGCACTCTAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGG	pathogenic	328,983
Is the genetic change at chromosome 22, position 50625934, within gene ARSA (arylsulfatase A) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Metachromatic_leukodystrophy']	GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACCTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGA	GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAACAAATCTTTAGAGCTGGGGTCTCACTATGTTGCCCAGGCTGGTCTGAATTCCTGGCCTCAGGCATCCTCTCACCTCAGCCTCCCAAAGCACTGGGAATACAGGAGTGAATCGCCGTGTGCAGCCTAACAGATTTTTTGTTTTTTGAGACAGAGTTTTTCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCGATCTCGGCTCACTGCAACCACCGCCTCCCAGGTTCAAGTGATTCTCCAGCCTCAGACTCCCAAGTAGCTGGGATTACAGGGATGCACCACTACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCCACCCGCCTCGGCTTCCTAAAGTGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCAACAGATATTTTTAAGAGATCACTTTGTCTGCTGGGTGGAGAATCGTTAGTAGTGGGTCAAAAGGTGAAGGCAGGAGACAGAAGTGTGGGCACAGGTGAAATGCAGAGGCCTGGGAGGGTGGAGGGGCCCCAGAGGAGCCGTCTCAGGGCCTGCTGCTGTGCCTTCCTAGGAGCCAGCAGGGGCTCCAGGCCCCTTAGCCCCACCTGGAGTGTGCAACTCATCACCCAGCTTCAGACAGGTTTCTTATAAGAACCAAGGAGGTCCAGTGCCTGTGTCTCTAAGAATGCTTCTTCTGGGGGAATATCCCGTCTCTCTCAGGCACTTTGCATCTTCTGAGTCTTCTGGCCCTCACACCCTCCCACCCTCCCACCCCGTTCCTGGCACTCAAAGGCACGTGGCGCTGCTCCTGTGAACAGATGTGCCCATGTCCTTGAGGCTGACGTGTGCCTGTGTGCACTGACCCACGCAGATCACCAAGGCGCCAGGGCAGCTTCCAGAGCCACGACACCAGGGTTCAAATCCCAGCCCAACCTCTTTCTGGCTGGGTGATCTTGTACAAGTCCTGAACCTCTCTGCACCTCAGTTTCCTCATTCGTACCACAGGGGACCGGCACCAGCACACAGCATTACCCCAGGATTGGACGAATTGTCACATCTGCAAGTCTCCACTGGTGTTATTACGTTATCAGGCACAAACCCCCTCCAGACACCTGAGCCTCCCCCACAGGCTCCCAGTGAGGAGCCATCACATGCCCAGGCCAGCCGAGGGGCCCTCAGGCATGGGGATCTGGGCAATGGCAGCAAGCTGGGCGGGGGGTGCAGCCAGGATGACAGCAGATCTGCAGGGCGGGGTCCTCGCCCCGGGCCACCTGGCTGGGGCCGAAGGTCACAGCTGCGTCTAACTGGGCCTTGAGCAGCTGAAGCTGTTTCAGGGCTTGCAGCACCTCTGGGGTGGCCCCGGCCACACCCCCCAGCAGGTTGTAGTTCTCACCAGGGTCCTTGGACAGGTCATAGAGCAGCGGGGGCTCATGAGCAGTCAGAGAGCTGGAGGCGTGGCAGGCAGGGTCTGCAGTGGTATCACTGTGGGCAGAGCCTGGGGAGGGGGCCAATTCTGTGCACAGGGCAAGGGCGAGAGGAGGGGCCAGGGATCTAGGGCTCCGGGGAGGGGTCAGCAGGTCGGGGGGAGGGATCCACGGGGAGGGGTTACCCTGGGTGAAGAAGTGAGCCTTGTACTTTCCAGTCCGCACAGCAAAAACCCCACGGACCTCGTCTGGGTAGGACGGGTAGAAGAAGAGAGACTGCCGAGGGCTCTGGGGGCAGAGTCAGGGGTCACGGGGCGGGGCAGGCCCCAAGCACTGCACATACCTGGGGCTGCCAGCCCTGGTGGGAGGCCCTGGACGTGCACCGCTTCTTGCCCACCCAGGAACCTGAGAGGTGGCGCCACTTGGATGCCACTCAGTGCAGGAGGCACTGAGGCACAGACTCTCAGGCACTGCCCACACTCACCCCAGGGGAAGGCCAGGACAGGGGCCAAGGATCTGGGATCAGGGGTCACCGGCCCTACTTGCCTGTGCCCAGCAGCAGGGGGCTGAGGTCAAAGCCATCCAAGGTGACATTGGGCAGTGGGGCCCCAGCCAGGGCTGCCAGGGTAGGCAGCAGGTCCAGGGAGCTGGCCAGCTCGTGGGTCACGCCTGGGGGCAGGAGGCTGGTCAGTCACTCAGTTCGCCATCAAGGTTGGGGTGGTGGGGCCAGGGTTCCAAGGAGAGGGCCTGCGGACTGACCGGGAGCGATATGACCTGGCCAGAAGGCCAAGGCAGGCTCTCGGACACCGCCCTCGTAGGTCGTTCCCTTTCCACACCGCAAGAGACCGGAGCAGCCGCCTCGGGACATACGCATGGTCTCAGGTCTGGGACACAGGAGGCGCTCATGAGCCATGGAGCCACAGCCTCTGAGCCACCGAGGGTGACCAGTGGCCCCACACCTCTAAGTCACAAAGCTTGCCCGGAGGTGCCCAGCATGAGCCCGGCACCTCCCAGGCCTACCAAGACCAGCTCTCTGTGCACTGTGTCTCCTGACTACACCTTGGGCCCCTGCAACGTGGCCAGCATCTCCTGGCACCCCCTCACCCACTATGTTCTTGGCAAGCAGCTGAACTGCAAGGCCTCCAGGGCCCTGGCCCGTGACAGGGCCGGAGCACCCAGCTGCCCTGCTGGCATACCCATTGTCTGCAGTGAAGATGACCAGCGTCTCTTCAAGCAGCCCCAGGTCCCCTATGGCTGTCATCAGGGTCCCCACAGCTGCATCCAGCTCCATCAGGGAGTCCCCAAATGGCCCGCGGCCTGAACGCTCTGCAAAGCTCTGCCCACTGAACTGAGGGTAGTGGGTGTGCTGGGGGCAAAGACTGGAGTTAGCACTGGGTAGGGGTCACGGGCAGCCAGGGGGTTGGGCCAAGATCACTTACGTGAGAGGCATAGTACAGGAAGAAGGGGCGATCCTGGCGCTGGGCGTCGGCCATGAGGTCATGGGCGAAAGCCATGTAGCGGGCCTCTAGTCCGGGCAGCCAGGGGGGCTGCGCCTCCACGGACAGGTTGGCCAACAGTGGGATGGGGACCAGGCCCTGGTCACAGCCACCGTCGCAAGGAGTGGCCGGCGGGAAGCAGGTCAGGTTCTGGCAGGGGCCCTGAGGCGGGCAGCTGCCGTGAGGGCTGGGCTGGCAGGTGGGGCTGCGGGAGCATCAAGGGCTGGGGGACTTTGGGAGGTGGGAGGGTGGCTGAGGGCCCGGGTGGTTCCTACCTGGTCGTGGGAGTACGGGATGCCTAGAAATCGATGGAAGCCCTGATGGGGGGGCAGGAAGGCCCCCTCAGGCCCCACCCCAAGGTGCCACTTGCCGGCCATTCCTGTGAGGTAGCCTCGGGCAGCCAGGACTTCGGCCACGGTCACCTCCTCCAGGGGCAGGCCCCCCCGGGAGCTGGGCACCAGGACGCCAGGGTACATGCCCATCCGAACCGGGAGCCGGCCGGTCAGGAGGGCGGCCCTGCGGGACAAGTCACAGAGTCCCTGAGACAGACAGAAATGTGGCCTTCCCTAGAGAGAGAGACAGACGTTTTTCCCGCCCCCCTGCAATCCATTGGGAGGAAAGGGATGGAGGGTCGGGGCGGGGAAGAGGCGCGGCCCCCTCTTTACCTAGAGGGTGTGCACAGAGACACAGGCACGTAGAAGTCTGTGAACCGCAGCCCTCCCGCCGCCAGCTGGTCCAGGTTGGGAGTGGTAGAGCTGGGGTGCCCATAGCAGCCCAGGTCCCCATAGCCGAGGTCGTCGGCAAAGATCAGCACGATGTTGGGCGGACGGGCAACGGCCAGGCCAGCAGCCAGGGCCAGGAGGAGGGACCGCGGTGCCCCCATGGACATGGGACCGAGGGGTCTGTCCCAAGAGAGGGAGGGCTACTTGGCTCCAGCAGGCTCTTTCCGATACCGCAGACCCAGGCGCCGCCCTTCCCTGAGACCCCGGACCCAAATACTCCCCGACCCTGACGGCCGCCTCCTGAAGCTCCAGAGGGCCGGGGCCCGACAGTACCGGGAGACCGCGGGCTGGGACGGAACTCCTCCAGGAN	pathogenic	328,993

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