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
Chromosome 19, position 54122500, gene PRPF31: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic; ['Retinal_dystrophy']	CGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACAT	CGCTGCCTGAGTCTTAAGGACTTAAAGAGCCATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATNNNN	pathogenic	309,819
Does the genetic variant at chromosome 19, position 54122530, impacting gene PRPF31, appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic	CATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCT	CATTTGAGCATCAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTNN	pathogenic	309,820
Is the genetic mutation found on chromosome 19 at position 54122541, within the gene PRPF31, considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Retinitis_pigmentosa']	CAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCT	CAGGGTTAGGAGTGCAGACTCTGACGCCGCCCTGCCTGGTGTCAGATCTGAGCTCTGCCTTCTACTGGCTGTGACATCAGGCAGTTAGTATTTGCATGACTTTTAAACACAACATCTTTTTGTTTGTTTGTTTTTTGAGACAGGGTCTCACTCTGTCACCCAGGCCAGAATGCAGTGGCACGATCCCAGCTCACTGCAGCCTTGACCTTGTGGGCTCAGGCGTTCCTGCCTCAGCCTCCCAGGCAGCTGGGACCACAGGTGTACACCACCATGCCTGGCTAATTTTTTTTCTTTAATTATGTGTAGAGATGGGGTCTCCCTATGTCGCCCAGGTTGCTCTCCAACTCCTGGGCTCAAGCAGTTCTCCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTATGAGCCACTGTGCCTGACCTCTTATTACTAAAGCACAAAGAAGCGTTTTCCAGAAACAGACGTGGGGTAAGGGATGCTCTGGGGAGAGGGAGCAGCACATGCAGAGGCCAGGAGGGGTCTGGCGCGGTGGCTCACGCCTGTCATCCCAGCACTTTGGGTGGTCAAGGCAGATGGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGCCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAACAAACAAAAAAAATTAGCCGGGCATGGTGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACTATACTCTAGCCTGGGCAACCAGAGCGAAATTATGTCTCAAAAAAAAAAAAAAAAGGCTAGGAGGAGTGGGTGTCTGGGGCACTGTGATCACTCCTTTATGGCTGGAGTGGAATAAAATGAGGTGTGGTGAGAGGATGGGGCGGGAAGGGCGGGAGGCCAGACTGCAGAGCTGCTGAGTCAGCAAACAGGAACGGGGGAACTCCCTGTGTGCCAGGTGCTGTCCTGGGTACTCGGCTGTGGGTACAGCCAACGCAGGCACAGCACTGGTCCCTGCAGAGCTTCCGGAGTTGGGGAGGCCCTGAATGTCAGTCTGAGGACTCGGTCATTAGCCTTGGGGCTGTGGGGAGCCGTAGGAGGTTTCACACGGTCAGTTCTGGGGTAGATGGGGTCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTNNNNN	pathogenic	309,821
Variant at chromosome 19, position 54123702, gene PRPF31 (pre-mRNA processing factor 31): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_11']	TCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAA	TCAAGTCTAGACTGGTGTGGAGGGAGAGGGATTGAAGGCAGGAACACAAGTTCAGGGATGTCTGCAGACATCAGCCTGTCCCTGGTTTACTCTTCAGCCCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	309,831
Does the chromosome 19 mutation at position 54123800 within gene PRPF31 (pre-mRNA processing factor 31) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Retinitis_pigmentosa']	CCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTG	CCCTCCTTCCTGACCCCTCCCAACTTCATCCTCCGCCTCCTCCAGCTGCGGGACCCGAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGNN	pathogenic	309,835
Variant at chromosome 19, position 54123856, gene PRPF31 (pre-mRNA processing factor 31): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Retinal_dystrophy']	GAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAA	GAGAGGGGGTAGGGATTTAGATACTCACACCCATGCCTCCGTGTCCTCACAGTGATGGGACCAGTGGAGGCCGCGCCTGAATACCGCGTCATCGTGGATGCCAACAACCTGACCGTGGAGATCGAAAACGAGCTGAGTGAGTGCTGGGGGGCAGGCGGAGACAGCCCCGTGTGACGTCCCTCACGCCCCCTCTCCCTTCCCCACTGGCCTTTCCCAGGGTCCTGCCCCTAAGCCCAAGCTCAGATCGAGGTTGACCTGCTGTCACAGAGTGGCTGAAATAAGAAGGAAGTGCGTTCTCTCGCGTATGAGTCTGAGGAGCACTCGGGGATGGTGTGGCCGCTTGGCTGCCTGTAGGGCCCCGGCTCTTTCCATCCTGTTGGTCGGCCACCTGCCTCACGGTGCGAGGTGACTGCCCCACCTCCAGCCATCACCTCCGCATTCCCACCAGCAAGGCGCTTCTTTTCTTTAAGAACATGTCACTGCAGCTCACGTTTTACAGACCAGAACTAATTCCCCTGGTCACACCTAGCGGTAAGGACGGCTGAGAAAGGCTGTATGCTGGTGCCCGTGTGCCAGGCCACAAGCCAGGGCTTCAGTTACTAAAGGAAGAAGGGGACATGGGTGTTAGGGCCAACCAGCAGAGTCTACCTTCCATCTCACCCGACAACCTCCTGTCCCGTTTACCCTAGACATCATCCATAAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAAN	pathogenic	309,836
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 54124556, gene PRPF31 (pre-mRNA processing factor 31): what disease(s) if pathogenic?	pathogenic	AAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGA	AAGTTCATCCGGGATAAGTACTCAAAGAGATTCCCTGAACTGGAGTCCTTGGTCCCCAATGCACTGGATTACATCCGCACGGTCAAGGTGAGCGCAGAGAAGGTGGGGTGCTTCTGCTGGCGTGAAGGGGCAGGCGGGGCTCACTCTCGGACCCCCTCCCAGAGGCCTGAGGGTCTGGAGACGATGGAGAGGAGTGGACGAGGGCTCAGTGGTCTGCTCTGCCCAGCGTGGGAGGGACGGAGCCTGGACAGGACTTTCTCAGGGCTCCCCTCCAACCCCAGTCTCCCGAGAGGGCTTCCCCGCTGGCCTGACCCACGCTGCTCCCGCTGTGGTTGGAGCCGGTGGCATTGGAGTTGACATCCGAAGGTTGACACAGGGCAGGCACACGGAGATTTGGGGGAGAGAGACGTCTAAGTGCAGAGAGCTGGAGAGGGAACAAGTGGGGAGGAAGTGAGGCGGGGAAGGAGGGGACGGGGAAGAGGTCGGATCACGTCCAGCCTTTGGGTCTTAGGAGAAAGCCAAGGAAGGGTTTCGGAAAAGAGGGGCAGGTGTGCGTGAGGGCGGGGAGAGGAGGAGGTCCCCACGCATGTCCAGGAAAGGATTAGGATGGCGGTGGGGAAGCCCCTGCAGGGAAGCGAGGCCGCGGATTTGCACTCCGACTTGACGCAGGCCAGAGGCTTGTGAGGCCACAGTCTTTCCAGACGCCACTCTGCCCGGGCTCCGTTTCCAGGTCAGCGAAAGCAGGGCAGATGGTGTGGATGCTTGACGTGGTGGAGGCAGGAATGGTGTGGATGCTTCAGGCGGTGGAGGCAGGAGAGGCCCCCAGTGCAGAGACCCTGACTGTCCCAGTGTCCCTAAGAAGAGACCTGAGGAGGTGCTGAGCAAGAGAGGTTCTCGAGCCTTCCTGAGTTCCCGAGCCTCCCCTATCTTCTCTGCTCGCCCCCAGGAGCTGGGCAACAGCCTGGACAAGTGCAAGAACAATGAGAACCTGCAGCAGATCCTCACCAATGCCACCATCATGGTCGTCAGCGTCACCGCCTCCACCACCCAGGGGTATGTCCGCTTCGAGGGAGGCGCCGGGCCCTAATGGGATTGGGGATTAGGCTGGAGCTACACACGCAGGTGTACACACGCACACACACATACACACATGCACACACACACACAGAACCGAGAGGGCTGGGGCTGGGCACACCAGGCAGGCGGGAGACCCAGGAGGCTGGGCCCACCCGCCCCTGCAGGCAGCAGCTGTCGGAGGAGGAGCTGGAGCGGCTGGAGGAGGCCTGCGACATGGCGCTGGAGCTGAACGCCTCCAAGCACCGCATCTACGAGTATGTGGAGTCCCGGATGTCCTTCATCGCACCCAACCTGTCCATCATTATCGGGGCATCCACGGCCGCCAAGATCATGGGTGAGTCCCCGGGCTGGGTCCCATGGAGCGGGGGTCTGCTGACACTGTGACCTTGGGAAAGCTACATCCTTTTCTGTAGAATGGGGGCTTTGGCACCTGGACCTCAGCACCCCGTCTCCCTGGACATCACAGAGGTCAGCCAGCCTGGCACACAGCAAAGCCTCATCTGTGGGAAAAACACTCACCCACAGCTCCTTCTCCCTCCCCTGTGCCGGAAACCCAGAGATGACCACACCCAGGCCCTGTTGTCAGGGAGCTCCTGGTTTGGTGAAAATGGTTCCAAAACACAGCCATCCCTGGAACGGCGTTAGTGTGGCTTAGCACAAACGTGGTGGTCAGCTTCCTGTTGGGGGCCTCCTCCCTGCACCCCCAGGCCAGCTGCCCTCCCTCTCTGAGCCTCCTTTGCATCTGCCCCTTGCGGAATGGGCCAGGTCGCCCGCCTGGCAGGGCCATCGAGGAATCCAACCAGAACTTCATGTAAAGGTGCCCAGCACACGTCGAGCCCCCAGGCAGATTTACTCACCCCCACCTCTCTGCTTTCTTCTGACCGCCCCCCCTTCCTCCCTCCCTCCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGANNNNNNNNNN	pathogenic	309,840
Is the genetic mutation found on chromosome 19 at position 54126537, within the gene PRPF31 (pre-mRNA processing factor 31), considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Retinitis_pigmentosa_11']	CCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCT	CCCACCGCAGGTGTGGCCGGCGGCCTGACCAACCTCTCCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTNNNNNNNNNNNNNN	pathogenic	309,845
Does the variant on chromosome 19 at location 54126574 affecting gene PRPF31 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Retinitis_pigmentosa_11']	CCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTC	CCAAGATGCCCGCCTGCAACATCATGCTGCTCGGGGCCCAGCGCAAGACGCTGTCGGGCTTCTCGTCTACCTCAGTGCTGCCCCACACCGGCTACATCTACCACAGTGACATCGTGCAGTCCCTGCCACCGGTGAGCCCACTGCGTCATGGCCCCTCCCCCGGCCCCCCTGGAGCCTTCCGCTGTGCCCAGACAGCCTGAGCAGCCACCCACCATCTGGCCCAGCTGACGGTAGCACTCAGGAGCTGGGAACAGGGTGGCATGGGACGTGAGAGCCAGGGCTCTGCAGCAGACCAGCTCCAGCACCCACCAGTCAGGTGACTGTGGGCAAGAGGCATGAGCGCCCTGTGCCTCAGTCTCCTCCCCTATCAAATGGGAGCACAGCGCCTGCTTCATGAGTTGGGACGAGGGCTCAGTGCACATGAAGCACTTACAGTTCAGGCCTAGCTCACGACAAGCAGCGTCGGGTTAGCGTGCAACTGCTCCGAAGACCACCCTCAGGTTTGACCATTCACTAGAAAGACTCACAGAATCCACTGAGGGCTGCACATCAGCCATGGGGAGAGACACACAGGAGGGGCAGGAGAGGTCACCAACCTCGGAGCTTCCCGGGTCCTCTCCCTGCAGTCGGGACACATCACCATCCCAGCATCGACGCCTGACAGCACACACACAGGCCCGCTAGCCTGGCGGGGCGCAGTGGCTCGTGCCTGTCATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGTGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAAATACAAAAAACTAGCTGGGTATAGTGGCACACACTTATAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTAAGATCATACCACTGCCCTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAACAAGCAAGACAGGTTCTGGGACAGACAGGCCTGGGTCCAGACCCTGCTCTGTCCAACTGTGGCGAGTTACCTCAGGCTCACGGCCCTGTGCCCTGCCTGGCCTCCCCCAGGGATGGGGAGAACAATAGCACTGATGGCCAAGGCTGGGCAGGCACTTCCTGGCCCCACCCCCCAGCCCTGTGTGGGGTTTTTTTTGTGGTCTTTTCTGCGACCCTTTAGGTCAGGCACTGCTACTGGAACACACCCAGGGAGGCTGGCAGGTCACCCCATCCTGGGAGGAGAGAGAGTGGGCGATAGAACCCAGGACGGGTGGGCCTGGGGCTCGGGGCTCCAGCTGCCTCACTGCACCCCTGCCATCGCCACCGCCTCACAGCCCTGGGCATATGGGTTAAACCTGCCCCAGGGAGCCTGATGTCTTGTCACCCAGGCCTCTGCCTCTTCATTTGGCCATCTCACATCGGTCCAGGCACAGGCCGTAGACACCACAGGCCTGTAAGGGAGGCCAGGGCTGGCCATCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCN	pathogenic	309,847
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 54128074, gene PRPF31 (pre-mRNA processing factor 31): what disease(s) if pathogenic?	pathogenic; ['Retinitis_pigmentosa']	TCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGG	TCGCTTCACTGTGGCTGACAGCTGGGCTCTGTTTGCAGTTTGGATTGGAACCCTGGCTCCATCACCTGCTGGCTGTCTCCCTGGCCACATGACTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGN	pathogenic	309,851
Chromosome 19, position 54128166, gene PRPF31 (pre-mRNA processing factor 31): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic; ['Retinal_dystrophy']	CTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAG	CTTGAAGCCTTGGTTTCCACATCTGAAAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGN	pathogenic	309,854
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 54128192, gene PRPF31 (pre-mRNA processing factor 31): what disease(s) if pathogenic?	pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa']	AAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGC	AAAGGGGGTGCAATGATCACACCAGCCCGATATTTGAATATTTGATGAGATGATCCGAGGGGCGTGCTTAGCATGGGGCTGGCATCCAGGCCGAGTGCACTCCCCCCGGCGTCTCCACAGTCACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCNNNNNNNNNNNNNNN	pathogenic	309,857
Clinical classification of chromosome 19, position 54128314, gene PRPF31 (pre-mRNA processing factor 31): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Retinal_dystrophy']	ACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTC	ACCACCGTCCTCGTTGTCAGCGTGCCTTACTGTCATCCTTACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGTGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCN	pathogenic	309,862
A genetic variant on chromosome 19, position 54128354, affects the gene PRPF31 (pre-mRNA processing factor 31). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Retinal_dystrophy']	ACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTG	ACCTGATGGCCACTTATCAGCTGGGACATGGCTCTGTGCCCTGCCCTCATCCCCTCTTCCTGTGAAGTAGGAGCTGAGAGCACACACCTCTAGAGCCCAAGGGTGGAAAGCCCCCTTCCAGGACCCCAGGTAGAGCCAGAGGAGGAGCGCGCGCGGTTGCTTTGCTGTTACCTCTGTCTGTCTGTCTCACACAGATTCCACCCCCGTTTTCCGTTGCTCCAGGATCTGCGGCGGAAAGCGGCCCGGCTGGTGGCCGCCAAGTGCACACTGGCAGCCCGTGTGGACAGTTTCCACGAGAGCACAGAAGGGAAGGTGAGGAGGGAAAGGTGAGGGGCGGCCGGGCGTCTTTTCCTCTGGGCCTGGGGTGTCTCTGCAGGGAGACCCTCAGCAGGGAGCCCACCCCAGCGAGCACTGTCCTACCAAGGCGGAGGCAGTGCTTCTGCCCACCCTCCCTGGGGTCAGGCACCCCCTTCCCCAGTGGGGTTTCCTAGGTCTGCTGTTGGAAGGTAGCATGAACCTACTGGCTTAAAACAGTGCAGGTGTGGCCGGGTGCAGTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGGGTGGGCGGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACCAAAATTAGCCGGGTGTGGTGGCACGCACCTGTAATCCCAGTTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGACGGAGGTTGCAGTGAACTGAGATTGCATCATTGCACTCCAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCA	pathogenic	309,865
Gene PRPF31 (pre-mRNA processing factor 31) variant at chromosome position 54129137 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Retinal_dystrophy']	CAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCGACAGAGCCAGACTCTGTCTCAAAAAAAAAAAAAAGAAGGCAGAAATGCCAGGGAGGGGAGGAGGTGGAAGGTAGGAGGTGGGACAGGGGAGGCTCTCGTTTCGGAGCAGCCAGGGAGGGCCTCTTTGAGAAGATGAGGCCAGTGGCTGTGCCTTTCCAAGCCTCCCCTCCTCCATCATGAGGTGCTCAGGACTGAAAAGAACGCACAGGAAGCACTTGGCACTGGGCTCACCATTAGAGCCCAATGACTGGGTCCTGTTATTATTTTTAGAGACGGGGGCTCGCTCTGTTGCCTTGAAAATATTTAGGAAGTGCCAGCCAGGTGTTGGCTCCCATTGCTGCCACTATGATCGTCAGTGGTGTTGGTGTGATTTGTGCTAGGACCTCGGGCCAGCCATGTCCCCCAGGGACTCAGTTTCCTTATGCAGAAACTGGGCAGGATTGGCTGTCCTCAAGCATTGGTTGTTTTTAGCACCCCTGAGGAACTTCGTACAAATCCAGGCGCCCTGGTTCCTCCCCACCCTCTCCCTCTAGACCCACTGAGTCAGAATCTCCCAAGACAGGGCAACTCCAGGGACAGG	CAGCTTGGGTGACATAGCGAGACTCCATCTAAAAACAAAAACAAAAAACAGTACAGGTTTATTATCTGTGGTCCTGTAGGTCAGAAGTCCAAAATGAGTTTCACTGGGCTGAAGTCAGGGTGTCATCCTGGAGCGTTCCTTCTGGGGGATTCAAGGGATAATCCATTCCCTGGTCTTTTCCAGCTTCTAGGGGTCACTGGCACCCCTTAGCTCGTGGCCCTCCCTCTGTCTGCGGAGCCAGCCACATAGCACCCTCAGACCTCTCTCTGACTCTGCTTCTGTCTTCATATCTCCGCCTCTGTTTTTGTTCCCCTCTTCTATTTTAAGGGCCCCTGTGGCTATACTGAGCCTACTCAGATGGTCCAGGATAGTCTTCCCAGCTCACAATCCTTAAAATCCTTCTTAACCTCTTCACGTCCCTTTTGCCCTGTGATTCTGGGAATTAGAACATGGGCCTCTTTGGGCATGTGTGTGTTGGTGGGGGCGTAATTTGCCTTCCACACCAGGATCTGTCCCCGCTGCAACAGGGGATGTTATTCAAGTAATTATTCAGTTACCTTCTGTCTTCCTTGGTAGATGTACTCGGGAGAGGAGACGTTTTCTGTCTTGTGAACTGTCGTTTGCCAAGCACCCGGCCTGGCACAGCGTTCAGGTGTTCCGTGTCCCCTTCTCCTTTCCCTCTCCCCATCTCACCCCTGGTCTGGGTGTGGGGGTGCAGCTGTGAGTAGCACAGACAGGACCCCTGCCCCGTGGCGTGGACATTCTTGTTGGGGCCGGGTCAAAGAGACAGTCAACAGGTGAACTCTGTCCTGCGTCTAGCGGTGCTAAGTCAACACCAAGAAGAAAAAGAAAGGGGGTGGCGGTGAGGCAGCATTAGGTGCTGATTTAACTAAGGCACGTGGATACTCGGGGGGCCCGCTCAGAGGAGGCCTGGGTGGGCAGCCCACGCGAGCAGCTGCAGGACCTCCCCCTCGCCCTCCCCAGGTGGGCTACGAACTGAAGGATGAGATCGAGCGCAAATTCGACAAGTGGCAGGAGCCGCCGCCTGTGAAGCAGGTGAAGCCGCTGCCTGCGCCCCTGGATGGACAGCGGAAGAAGCGAGGCGGCCGCAGGTGAGGGGCCCTGGGGGTCCGGTAGGCATGGGGGTCATGGAGGGGAGAAGCCGGCGTCCTCCTCCCAGCCGACTCCCTGGCGCCGCCCACCCACCCGTCCCCAGGTACCGCAAGATGAAGGAGCGGCTGGGGCTGACGGAGATCCGGAAGCAGGCCAACCGTATGAGCTTCGGAGAGGTCAGACTCCCAGAGCGCCCTCCTCAACCCCACAGCCAGCCAGCCGCCACCGCCCTCTGCCTCCTGCCACCGCCCCTCCTCTCGTCCTGTGGCCCTGGCTCATGTCTAGGGCGCTGCCCCAGCCTCCCCCCCCCCGGCCTCTATTCTCGTTTCCATCCGTTCAGCCCCAAAGCGACCCTCGCGACCCTTGGAGCCTGTGTCTCCGCTGCTTAGAGCCCCCGCGGCTTCCCATCGCCCCGGGCTCCTTGGCCGGTTCCTCCCTGCCCAGAGGCTCCTTAGTGCCCTGCTGCACGGCCGCCCCGTCCCTGGGCCCCGCCAGTCTCCTCTGTTATCCCAGCGTCATCCCCTTGGTCCTGCAGGACCGAACTCAGAGGCCACCTCATCCTATTAAACCTGTTCTGGTTCCTGACATCCCCCGACCCACACGAGTAAGGAAGGAATGGCCTCCCAACTCTGAGCTCACAGAGCAGTGCTGGGACCGGGCCCCTCTCAGGCTCCCCAGCATCCCCCGCGTGTGTGGGCCCCCAGGCCTCAGCCGGGCCGAGTGGGTACCGGAGCAGGTGCCCGTGGGACCGGCCGGCTGGTGACCGCTGGGCTTCGGGCTGGTGGAGGGGGTGCCTCGGTGGCTGGAGGGCAGGGCCTGGTCGCTGAACTGCAGGGCGCCTCCTCTCCCCCCTAGATCGAGGAGGACGCCTACCAGGAGGACCTGGGATTCAGCCTGGGCCACCTGGGCAAGTCGGGCAGTGGGCGTGTGCGGCAGACAGGTAAACGAGGCCACCAAGGCCAGGATCTCCAAGACGCTGCAGGTATGGGCCAGACCCAGGTGGGGCTGGGGACCGAGGGACACAAGGTGGGGGGAGCCCAGATCGCAGCCTCCCTGTCCTCCCCACAGCGGACCCTGCAGAAGCAGAGCGTCGTATATGGCGGGAAGTCCACCATCCGCGACCGCTCCTCGGGCACGGCCTCCAGCGTGGCCTTCACCCCACTCCAGGTACCTCCCCTGGGCCGGCTCTGTCCCCAGCCCTGAGACCTTGGCAAGGCCCCTTGCCCTCTGCCCCTGTGAAGAAGGCCAGGATGAGTCTCCTCATGGGGCTGTTGTGGAGGGTGTGGTGACGAGGTATGCAGAGGACGTAGACAGCTCCTGGCACACAGGAAGAGGTTAGCAGAGACGAGAGCCCAGCGCTGAGCAGTCCTCGTGAGCACGCACTGCTTTAGAACCAGGCCCACAGCTGTGTTCAGGGCACCCAGTTCCTCTGTCGGGCTGTGAGCGGGTAACACTGCTCAGCCTCCAGGCCCTCCAGTTCAAAACGGCCAGGACGGTTAAGGTAACCTCAGGACCCCACTCGAGAAAGTTCCCGGCTAGGCGGGCTTGGATGTCAAGTGTGGGTCCAGGCCCCAGCCAGTCAGCAGTGAGCAGCGTGGAGCATGGCAGTCACCGCATCGTCGGAGCCTCGGTTTACCATCCACAGAGCAGGGCGAGCCTGCACCACGGAGGCGAGACAGCAGCGAGCTCATCTGCCCAGTCAGCGGGTGTCTACGCAGCACCTGCTGAGTTCTGTCAGTGTTCCCGGCTCTGGGGATGAAGCAACGAATGAGAGACAAGTCTTACCTTCTTGGAGCCAGTGGGTGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCTGGGCGCAGACAGCTCAGTAAGATGTCCAGTGTAGGAGAAGGCAGAAATGCCAGGCCGGGCGCAGACAGCTCAGTAAGATGCCCAGTGTAGTAGAAGGCAGAAATGCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAACTTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTTCAGCCTGGGCGACAGAGCCAGACTCTGTCTCAAAAAAAAAAAAAAGAAGGCAGAAATGCCAGGGAGGGGAGGAGGTGGAAGGTAGGAGGTGGGACAGGGGAGGCTCTCGTTTCGGAGCAGCCAGGGAGGGCCTCTTTGAGAAGATGAGGCCAGTGGCTGTGCCTTTCCAAGCCTCCCCTCCTCCATCATGAGGTGCTCAGGACTGAAAAGAACGCACAGGAAGCACTTGGCACTGGGCTCACCATTAGAGCCCAATGACTGGGTCCTGTTATTATTTTTAGAGACGGGGGCTCGCTCTGTTGCCTTGAAAATATTTAGGAAGTGCCAGCCAGGTGTTGGCTCCCATTGCTGCCACTATGATCGTCAGTGGTGTTGGTGTGATTTGTGCTAGGACCTCGGGCCAGCCATGTCCCCCAGGGACTCAGTTTCCTTATGCAGAAACTGGGCAGGATTGGCTGTCCTCAAGCATTGGTTGTTTTTAGCACCCCTGAGGAACTTCGTACAAATCCAGGCGCCCTGGTTCCTCCCCACCCTCTCCCTCTAGACCCACTGAGTCAGAATCTCCCAAGACAGGGCAACTCCAGGGACAGGNN	pathogenic	309,871
A genetic variant at chromosome 19, position 54146018, affecting gene CNOT3 (CCR4-NOT transcription complex subunit 3)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Intellectual_developmental_disorder_with_speech_delay,_autism,_and_dysmorphic_facies']	CTTTGAGAGCCCCCCTGCCAACTGCACTCTCTACAGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAAGAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGGTGAGTTGGGGTAGAGAAGAGGAGGTGAACTCTGAGGATCCTGAGCCCTGGGTGTAGGCGGAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATGGGGATGGGCATGGGAATGGGCTGGCCAGCAGGAGGCCAGTCATTTATGCTCCTGGGAGTTGGGGCCTGGATTCCTCAGGCGGACAGGGCCAACAGCCGGGATTAGGGATTTGAGAGACAGGATTGGGAGGGCTTAGCAGCTGCACGCGTGGGGCAGGAAGGAGGTCAGACAGAATCTCAGGGTCCCCTGGGTGTCTGGGTAGACCGTGGGGCCTTTGTGAAGAGGAGCGACTTGGGGGAAGGTGAGTGCAGGTTGAGCTTGGGCCACAGAGTAAAAGTGAGACCTGAAGGACACCCATGGCAAGAGGCCTCCTGGCACCCAGAGGGCCCTGGTCCTAGGGAGAGCACAGTGGGTAGAGACAAGGCAGAACATGGAGAAGGCAGAGAACCAGGCCTGAAGGAAGACAGGAGTCTGGGACAAAGCTGGATGTTGGGGTCCCAGGTTCTAAAATCCGGGATTGTGGGGTATGAGTTCAAAGGGATACAAACTGTACAGACTTGCTGAAACCAGAAAGACAGGGAGGGGAGAGCCGGGTCCTCAGGGAAGCTGTGGGTGGGAGAGGGTCAGGAAGTGGAAGATGACAGGGTTGGGTGTCAGACTCTGAGGGGTTTGGGAACCAGGGGCTTTCGGGGAGATGATGGGTCCTTGAACAGAGCAGAGATTTGGAACCAAGGCTAAGATGTTAAATCCTAAAGGGGCCTTGAGGGGAGGGCAGGAGCGAGGCTTAGGAATCTGGGCTCTCTCAGGGATAAATGGGTAGGGTTGGGGGCCTAGTGATGACAGATATCACAATTCTAAACAGCAAGCTCCTCACAAATGGGGGTTATCATTGTTACTGCTGGAGCAGGTCGGAGGGTATCTGTATGCCAGAGGCAGTCACAGTGGTGGGCGGGCTCAGTTGAGAAATCTGGGCTGTCAGGTGAGGTGCAGATGGAGGCCAAGTCGTGGGATGGCACAAGGACCTCTGGGTCTTTTAGAGGTTTCCAAGGACTCCTGGAGCCAGAAAGGTGTGGGGAGAGGAGGGAGCAGTGGGATCCCAAGATGTCAAGGCTAAGATTGGTCCCCACAGGGCTCAGAGGGTGGGTGGACCCCATACTGCCCCACCCCGAAGGGGATGGCGTGGAGGCTTTGGGTCTCCACAGGGGTCAGGGACTGAGGACAGGTTCTGTGGGGGCAGGAGGGGCCAAGCAGGTGCTCTGCAGCCCCTGAGCCTGGCCCTGGGCTCGCCAGCAGAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAGCACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATCCGCAAGATCAAGGACGACGTTGAGTACTATGTTGACTCATCCCAGGACCCCGACTTCGAGGAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTCGTGAGGCCCTGGGGCTGATCGTGGCACAGGAAGTGAGGGCCCAGAATGGGCTGTGTGAGCCAGCTAAGCATGCCCTTCTTCTGCCCCCACAGCACAGGCGCTGGTCGCCACCTCCCCCCCCAGCCACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACGCCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCAACTGTACCACGGTGAGGCCCCACGGGACACTAGTACCTTGTGTTTCCAGCAGGGCAGGACTCGAGGAGACAAATCTGGGTCACTCCAAAGTGGCTATGGGAGCGTAATTGAGGAAACACAGATCTAGGTATCCAGGGTCTAGGCTCTTGGAGCACACGCTAAGGTCCTATATCTGGGTCCCTAAAGGACATAAAGAGCAATAGGGTGCATCCCGCGCCAGTTTAGGTCCTGGATCTGGGAAGTGGGAGGGGCCGGTGCCTGGGCTGCCTGAGGAGGCTGGGTAGCTGGCCACCTTGGGCAGGGATCCAAGGGTTGGCTTCCCTGTGGAGAGCAGGTTCCCAGATCCTTAAGAGGCTGGTGGGTCAGTGCTGGCTCCCAGAAAACAAGAAGACTGGAGAGCCTGAATTGAGATGGTTTCTCCAGGCAGATTAAGGACAGCCATTTGACCAGCTCTGGGGCCGCAATGGCAGTCAATTGGGCCCAGGTCCCCGGGGCATTCAGAGATTGGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTTCCCAAAGGCATCTTGAGGCCTGAGCGCCGGCCACTGTGCTGGGCTGGTGGACACAGGTGGCTCAGAAATCAGTGCTGCCCTGAGGGCAGGTGGGCAGGGCAAGTGGACAGGTGACTGGTGCTGTGGTCAAGGGGGTAGCACACAGGTCACCCTTGGCCTGGCCAGGCAGTCAGGAGATGCTGCTGTGGAGTGCCCTGGGCTTCACAGTCAGGTGAGTTTGCCTGGCAGGGAGAGGTGGCAGCCAGTAACATGGGCAAGTTGTGACAGAAAGTTTGGAAGTGAGGAGAGATGAGTCTGGCCAGGTCTGCAGGGCCAGGGGCCCAACTGTGAGCACAGGGACTGGGACTGTCAGGCTGAGGGGCTCAGGCTTTGTGGACCTGAGTGGCCTCCAGAGTCCAATAAGCCTAGGAAGCGATGGGGCCTTTGCTGTGCTGATAATACACACTGCAAATTTCTGAGAGGAGACGGTGGCGGGCAGTGCTTCTTCAACTCCTTTGACATCTCCCAGGACAGGAGCACGCTTTCGGAAACGCTGCTACAGAACAATGTTAGGCAGGAGCAGCATGGGCCTGAGGCCCCTCTGTGGGCTAACGGGATGGATGGTTCCAAGGGGACACCCTGAGTGGGCATTGAGGAGGCTGGTGTGGAGACTAAGGGGACCCGCAGGTAGTAGTGAGGGCGGGCAACAGGGCCAGGAGGTGATGAGGAGAGACACTGAGGCAGGTACTCCAGGGGCCAGGCTGGGCTCTGCCACCTTCCCAGGCCCCCACTGCCAAGCAGCGATGCCCAGGAGAGAAGTGGGTAGTCAGTCCTGTTGGGCGCTTGGTAAGCGCAAGGTGCCTGTGGGGTGGCTGGAAAGAAGCCCAGGAGGTGGTTAGGCTCAGCAGCCCGAGTGCTGTCCGCAGATTGCCTGCGGTAGGGATACCATGAGCACATTTACCCTCCCACCACTTTCTGGAGTGCTGGTAACTTCCAGCCCTGTGAGTAGCTTCTGTGACCCTTCAGGTGACATTCAGAATTACTATCCAATTTCCAGCTGTTTTTCCTTCTACTCTTGGACATTAGGCGGCTCCAGCTAATCTCATATTGAGAACACTTAAGTGTTTCCCACTAGTCCTCTGGCTTCCAACAGATGGATCTTCTCTGGCTGACAACCTAAGTTGTGTGTCAGATCCCTGTGGGGGTGTCCATGGGGCGGTGTCCAGGCAGGACTTGGGAAGCTGGGCAGGCTGGAAATCAGTGTGAGTGTTTTAAGCATGAAGGTGATTGAAGCCATGAGGGTGAGTAAGGTCACCCAGGTCCCCAAGAGGGCAGGAGCAGGTGGGGGCAGCGAGGCCAGAGAGGAGGCTGCTGGGAC	CTTTGAGAGCCCCCCTGCCAACTGCACTCTCTACAGCAAATGGAACGGTTCAAAGTTGTGGAACGAGAGACCAAAACCAAAGCTTACAGCAAAGAGGGCCTGGGCCTGGCCCAGAAGGTAGATCCTGCCCAGAAGGAGAAGGAAGAGGTTGGCCAGTGGCTCACGGTGAGTTGGGGTAGAGAAGAGGAGGTGAACTCTGAGGATCCTGAGCCCTGGGTGTAGGCGGAACCCTAGCTGATGGGCTTCCTCTTCCTCTCCCTCCCCTAGAATACCATCGACACGCTCAACATGCAGGTGGACCAGTTTGAGAGTGAAGTGGAGTCACTGTCAGTGCAGACACGCAAGAAGAAGGGCGACAAGGATGTGAGTGAGGGAGACCCGACACCTTTGGGATGGGGATGGGCATGGGAATGGGCTGGCCAGCAGGAGGCCAGTCATTTATGCTCCTGGGAGTTGGGGCCTGGATTCCTCAGGCGGACAGGGCCAACAGCCGGGATTAGGGATTTGAGAGACAGGATTGGGAGGGCTTAGCAGCTGCACGCGTGGGGCAGGAAGGAGGTCAGACAGAATCTCAGGGTCCCCTGGGTGTCTGGGTAGACCGTGGGGCCTTTGTGAAGAGGAGCGACTTGGGGGAAGGTGAGTGCAGGTTGAGCTTGGGCCACAGAGTAAAAGTGAGACCTGAAGGACACCCATGGCAAGAGGCCTCCTGGCACCCAGAGGGCCCTGGTCCTAGGGAGAGCACAGTGGGTAGAGACAAGGCAGAACATGGAGAAGGCAGAGAACCAGGCCTGAAGGAAGACAGGAGTCTGGGACAAAGCTGGATGTTGGGGTCCCAGGTTCTAAAATCCGGGATTGTGGGGTATGAGTTCAAAGGGATACAAACTGTACAGACTTGCTGAAACCAGAAAGACAGGGAGGGGAGAGCCGGGTCCTCAGGGAAGCTGTGGGTGGGAGAGGGTCAGGAAGTGGAAGATGACAGGGTTGGGTGTCAGACTCTGAGGGGTTTGGGAACCAGGGGCTTTCGGGGAGATGATGGGTCCTTGAACAGAGCAGAGATTTGGAACCAAGGCTAAGATGTTAAATCCTAAAGGGGCCTTGAGGGGAGGGCAGGAGCGAGGCTTAGGAATCTGGGCTCTCTCAGGGATAAATGGGTAGGGTTGGGGGCCTAGTGATGACAGATATCACAATTCTAAACAGCAAGCTCCTCACAAATGGGGGTTATCATTGTTACTGCTGGAGCAGGTCGGAGGGTATCTGTATGCCAGAGGCAGTCACAGTGGTGGGCGGGCTCAGTTGAGAAATCTGGGCTGTCAGGTGAGGTGCAGATGGAGGCCAAGTCGTGGGATGGCACAAGGACCTCTGGGTCTTTTAGAGGTTTCCAAGGACTCCTGGAGCCAGAAAGGTGTGGGGAGAGGAGGGAGCAGTGGGATCCCAAGATGTCAAGGCTAAGATTGGTCCCCACAGGGCTCAGAGGGTGGGTGGACCCCATACTGCCCCACCCCGAAGGGGATGGCGTGGAGGCTTTGGGTCTCCACAGGGGTCAGGGACTGAGGACAGGTTCTGTGGGGGCAGGAGGGGCCAAGCAGGTGCTCTGCAGCCCCTGAGCCTGGCCCTGGGCTCGCCAGCAGAAGCAGGACCGGATTGAGGGCTTGAAGCGGCACATCGAGAAGCACCGCTACCACGTGCGCATGCTAGAGACCATCCTGCGCATGCTGGACAATGACTCCATCCTCGTTGACGCCATCCGCAAGATCAAGGACGACGTTGAGTACTATGTTGACTCATCCCAGGACCCCGACTTCGAGGAGAACGAGTTTCTCTACGATGACCTGGACCTCGAGGACATTCGTGAGGCCCTGGGGCTGATCGTGGCACAGGAAGTGAGGGCCCAGAATGGGCTGTGTGAGCCAGCTAAGCATGCCCTTCTTCTGCCCCCACAGCACAGGCGCTGGTCGCCACCTCCCCCCCCAGCCACAGCCACATGGAGGATGAGATCTTCAACCAGTCCAGCAGCACGCCCACCTCAACCACCTCCAGCTCTCCCATCCCGCCCAGCCCAGCCCAGCCAACTGTACCACGGTGAGGCCCCACGGGACACTAGTACCTTGTGTTTCCAGCAGGGCAGGACTCGAGGAGACAAATCTGGGTCACTCCAAAGTGGCTATGGGAGCGTAATTGAGGAAACACAGATCTAGGTATCCAGGGTCTAGGCTCTTGGAGCACACGCTAAGGTCCTATATCTGGGTCCCTAAAGGACATAAAGAGCAATAGGGTGCATCCCGCGCCAGTTTAGGTCCTGGATCTGGGAAGTGGGAGGGGCCGGTGCCTGGGCTGCCTGAGGAGGCTGGGTAGCTGGCCACCTTGGGCAGGGATCCAAGGGTTGGCTTCCCTGTGGAGAGCAGGTTCCCAGATCCTTAAGAGGCTGGTGGGTCAGTGCTGGCTCCCAGAAAACAAGAAGACTGGAGAGCCTGAATTGAGATGGTTTCTCCAGGCAGATTAAGGACAGCCATTTGACCAGCTCTGGGGCCGCAATGGCAGTCAATTGGGCCCAGGTCCCCGGGGCATTCAGAGATTGGCGGTTCTCCATCAGAGCCCCAGAGGTCACACAGGTTTCTATTCTGCCTCCCCTACCTCAGGAAAACTCTGAAGATGATAAGAAGAGGGGACGTTCCACAGACAGTGAAGTCAGCCAGGTGGGTGTGAGCCTGGACCGGGTGGGCACGCCATTCACTCCTCTGTTGCTTCCCAAAGGCATCTTGAGGCCTGAGCGCCGGCCACTGTGCTGGGCTGGTGGACACAGGTGGCTCAGAAATCAGTGCTGCCCTGAGGGCAGGTGGGCAGGGCAAGTGGACAGGTGACTGGTGCTGTGGTCAAGGGGGTAGCACACAGGTCACCCTTGGCCTGGCCAGGCAGTCAGGAGATGCTGCTGTGGAGTGCCCTGGGCTTCACAGTCAGGTGAGTTTGCCTGGCAGGGAGAGGTGGCAGCCAGTAACATGGGCAAGTTGTGACAGAAAGTTTGGAAGTGAGGAGAGATGAGTCTGGCCAGGTCTGCAGGGCCAGGGGCCCAACTGTGAGCACAGGGACTGGGACTGTCAGGCTGAGGGGCTCAGGCTTTGTGGACCTGAGTGGCCTCCAGAGTCCAATAAGCCTAGGAAGCGATGGGGCCTTTGCTGTGCTGATAATACACACTGCAAATTTCTGAGAGGAGACGGTGGCGGGCAGTGCTTCTTCAACTCCTTTGACATCTCCCAGGACAGGAGCACGCTTTCGGAAACGCTGCTACAGAACAATGTTAGGCAGGAGCAGCATGGGCCTGAGGCCCCTCTGTGGGCTAACGGGATGGATGGTTCCAAGGGGACACCCTGAGTGGGCATTGAGGAGGCTGGTGTGGAGACTAAGGGGACCCGCAGGTAGTAGTGAGGGCGGGCAACAGGGCCAGGAGGTGATGAGGAGAGACACTGAGGCAGGTACTCCAGGGGCCAGGCTGGGCTCTGCCACCTTCCCAGGCCCCCACTGCCAAGCAGCGATGCCCAGGAGAGAAGTGGGTAGTCAGTCCTGTTGGGCGCTTGGTAAGCGCAAGGTGCCTGTGGGGTGGCTGGAAAGAAGCCCAGGAGGTGGTTAGGCTCAGCAGCCCGAGTGCTGTCCGCAGATTGCCTGCGGTAGGGATACCATGAGCACATTTACCCTCCCACCACTTTCTGGAGTGCTGGTAACTTCCAGCCCTGTGAGTAGCTTCTGTGACCCTTCAGGTGACATTCAGAATTACTATCCAATTTCCAGCTGTTTTTCCTTCTACTCTTGGACATTAGGCGGCTCCAGCTAATCTCATATTGAGAACACTTAAGTGTTTCCCACTAGTCCTCTGGCTTCCAACAGATGGATCTTCTCTGGCTGACAACCTAAGTTGTGTGTCAGATCCCTGTGGGGGTGTCCATGGGGCGGTGTCCAGGCAGGACTTGGGAAGCTGGGCAGGCTGGAAATCAGTGTGAGTGTTTTAAGCATGAAGGTGATTGAAGCCATGAGGGTGAGTAAGGTCACCCAGGTCCCCAAGAGGGCAGGAGCAGGTGGGGGCAGCGAGGCCAGAGAGGAGGCTGCT	pathogenic	309,892
Does the variant on chromosome 19 at location 54152897 affecting gene CNOT3 (CCR4-NOT transcription complex subunit 3) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; []	GGTGCAATCTCAGCTGAATGCAACATCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCGA	GGTGCAATCTCAGCTGAATGCAACATCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCG	pathogenic	309,906
Variant chromosome 19, position 54152938, gene CNOT3 (CCR4-NOT transcription complex subunit 3): benign or pathogenic? Disease(s)?	pathogenic	AAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCGAGGTCTTTGTGAAGATTAAATGCTAGGCTGTGCATCCTGTAC	AAGCGATTCTCCTGCCGCAGCCTACTGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCAGGCTAATTTTTATATTTTTAATAGAGATGGGGTTTTGCCATGTTGGTCAGGCAGGTCTTGAACTCCGAACCTCAGGTGATCCACCCACCTTGACCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCGGCCCAAATTTTAGAAGTAGGTGGACAGGATATTTATAGTGCGTGCATTTTTCTGGAAAAAGGGAAACAGCAGCTTTGAGATTTTCAGAAGGGGTCCATATCTTTTAACACCACCAACAACAAAAATGAATCGCTGGGGTGGGTGGTCGGGAACCATGGCAAGGTTTGGAGTAGAGAAGGAACAACATGACTTCATTGGAAAGGTCCCCTGGGGCTGGTGAGGACAGGATAGAGGGAGGGTGGTCTGGGCAGGAGAGGACAGGCCTGGGCTGTGTGGGACATGGTGGCACGACAGGGAAGGGAGCCATCCAGTGGGGTTTAGAAGCAGGACGGATAGCTGGGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTAGGGAGGCAGAGGCGGGAGGATAGCTTGAGCCCAGGAGTTTGAGACCTGCCTGGGCGATATAGCGAGACAGGATGGATAAGCCTTGGCGACTGACTCGTTGTGGAGAGTCCAGCACAGGGCTGGGGTTTGGGACAGCTGCACGTGGCTGGAGGAGATGGGAGGAACCAGCCCTGACTTTGGGGAACAGAAGCCTGCTGTAACCTTTGTAATAGGAAACGAGGCTGTGGCTGCGGGGCTGGAGACCCAACCTACCTGTTTCCAGCAAGGAGACTGAAGCCTAGCCGGGCTGGGCCCACCCCGATTCCAGTCACCCCATGCCAGTCACAGGCAGACAGCTGAGCATGTAGACCTCCTGCCTCCTTCAAGACAGGCGGGAGCTCTCCCAGCGTGTAGGTGTCCCTAGTGAAGGAGCGTGTACTATTGGCACATCCTTTGACAAAAATGGTAGCGCACTGTACATATTCTGCAGGTTGGCGTTTACTTCTGTAGTATGTCACGAACTTGTATTTTGAAAATCTCGGCGTAGTATTCCATGCTGCAGAGTCCCACTCACGAGACGTTCCTCTGCTGATGAATGCGTCGTGGTCTCCGATTGTTTCCCTACAGTTTGATGCTTTTACCTGTCATGGGTAGATTGTGGGGAGTGGGTCGTTGGCCCTCCACGGCCCCCAAACAGGGCAGGTGAGAGCATCTGGGGCCTGTGTCAGGCTGCACTTGCTCCTGCAGCCCAAGTGCTCAGGCCAGGCCTCTTGTTTCCTCCCCAGGCCCCTGAGCCTCTGAGCTCCTTGAAGTCCATGGCGGAACGGGCAGCCATCAGCTCTGGCATTGAGGACCCTGTGCCAACGCTGCACCTGACCGAGCGAGGTGAGGGACCCAGGATGGTGGGGAAGCAGCGGGCCAAAGAGGAGGGGCTGCCCCTGACCCATCCTCACCACTGAGGGGGCCGGACCCCCACCCTCCCCACAGACATCATCCTGAGCAGTACATCAGCACCTCCGGCCTCAGCCCAGCCGCCCCTGCAGCTGTCAGAGGTGAACATACCGCTGTCGCTGGGTGTCTGTCCACTGGGCCCTGTGCCCCTCACCAAGGAGCAGCTCTATCAGCAGGCCATGGAAGAGGCCGCCTGGCACCACATGCCTCACCCCTCTGACTCTGAGCGTATTCGGTGAGGGGCCACAGGGAAGGGGGATGGTCTGGGACTTGAGTCTTACGGAGGAGGCAGTGGCTGAACCTGTGAGGCTGTGGGTAGAGCACCAGGCCCCTGACTTGGGCTCTCCACTGAAGGTCAGCACCGCCCTGGGTCTTTCTGTACCACCTCCCCCCGCAGGGATGCATGTCTGAGCACCCTTTTGATCACGACAGGACTAGTAGGCAGCTGGCACTGACCTTCCTGTTGCTCTCACAGGCAGTACCTCCCCCGGAACCCCTGTCCGACGCCCCCCTACCACCACCAGATGCCACCCCCACACTCGGACACTGGAATTCTACCAGCGCCTGTCGACCGAGACACTCTTCTTCATCTTCTACTATCTGGAGGTACAGCAGGGCCCCCGGGGCAGCCTCGGGCCCCCCGGCTTCGCCGCCACCGCCGCCGTCCCCCCTCGGGCTGGAGGGGTGAGGTGGGTGCCCCACTGCGGCCACTGGGACCGCACCCCCTCCCTATTCCCACTCCTGGGCCCCTGCCCCAAATCCACCTGTCCCCGTCCCCGCCTTCCAGCCCAGAGATGTTAGAACTGCTTGGGTTGACAGCGAGGCTGGTCCACTGAGGCACACCTCAGCCCCGCTTCCAGTTGCCCACTGGCTCACCCGCGGCCCCTCCCCAGCCCTGCTCCAGCAGCCCCAGTCTAGGCCGACCCCACTCTGCTCATTGGCACATTCTCAGGCCTCCCTGGAGACCACTGGGGAGCTGTCCAGCCCCCTCCCAACCCCAGTGAGTCATGAGTGACCTCCACCCTCATCCCCACTTGGGAAATTTTCTAAATTGCCTCCTCTCTCAGCTCTCATCACACATTAGTTTTTCTTCCTTCTCAAAGCTTCTCTGAAAGCAATTTTCACCTCCTGTCTCATTTTCCTTCTCCTGATCAGCATTGGTATGTTCTGTGCCCCCAGCCCCATCTCCAAGAGGATTGTCCAGCCCAACTGTGGTCTGTGGCGGGGGCCGGGGTTCAGCCCTGATGTCCTGCCCCATTCCCCTGGCTCCCCACCCAGTTTGGGGGCCCCCTGATCCCCCTCTCCACTGTTCCTCCCCCAGGGCACTAAGGCACAGTATCTGGCAGCCAAGGCCCTAAAGAAGCAGTCATGGCGATTCCACACCAAGTACATGATGTGGTTCCAGAGGCACGAGGAGCCCAAGACCATCACTGACGAGTTTGAGCAGGTGAGGGCCCCGCCCCCTCTCTTCCCGCTGCTAGGGTTGGGGTAGAGTCCCCAGGCTCCAGGCAGCCCCTGCTGGCCTCTGCTCCCTTGCCTCCACCTTTCAGCTGGCGCAGTCCCTCAGCCTGACCAAGTACTCCTCCCTCTGGCTGTCTGCTCAGCCTGGAACACCGCCCTCTCATCCTCCACTTGGCCAGCTCCTAGGCCTCCTGTAGGTCTCAGCCCAAATGTCCCTTCCTCAAAGAAACCTTCCTGGAGCCACCCAGCCCAGTGCCTCCCCTTTGCAGTGCTGGGCACACTCGCCTGGGGTGTGGGATTTTCCCAGTATGTGTCCCTGCACCAGGCTGTGGGCTCTGCTGCCGAGGGACCTTGATGGCCCCCACTTCACCTCCAGGTCCCAGCACTCAGCAGGGCAGGGGCTCAGTGCGGAAACTATTTTTTTTGAATGGGCTTCTCAAGTTCTAATACTGGGAAATTCCTGCTGCTTGCAAACACTCTGGAACCAACCTACCTGGGTTTCAGCCCAGTCCAGCTGGGCGACTCTAGGCAAGTCACTCGAACCTCTGTGTCTCAATTAACTTATCTGTAAAAATGGGGGGAAGACCACCTACCTAATGCAGTTGTTATGAAGATTAAATGAGTTAATAACATGTAAGTACTTAATGGTGACTGCTACATAGTCAGTGTCATGGATTTTTTTTTTCAAATTACTTTCAGTTGGTGTGTTCTACAGTGATGTTTTTTTCCACCAAATACTTCCCTGATGCCGAGCCCCTTCATGGGGATGAAGTAGTACAAGGTCCTTGTCCTCAGAGAACTCAGTCCCCTCTCCTGGTTCTCCCAGGTTGCCATCTTTGAAGCACTTAAGACATTCATTTAGAACCTAGGTCCTCTCCCATTGTGTCCTCAGATGTTAACCACAGACTTCCTGTCCTTTCCTGGTTTGGCCCAAAACCATCCTCCAAGTTAGTACATTTCAGGGCATCCAGTCATTCAGAAATTCCCACACCACTTCGTCACCAATAAAATGTCCCTGCAGAGTGCTTGGATTTAGACTCTGAGACTGTTCCATTCTCTAGAACAAGGGTGACAGTACCCACTGCCTCGAGGTCTTTGTGAAGATTAAATGCTAGGCTGTGCATCCTGTACNN	pathogenic	309,908
Does the chromosome 19 mutation at position 54180848 within gene MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_recessive_57']	GATATACTGCGCCAGCCACCACTGCACCGTCATGTTCCAGTACCGCATGCCATCGCGCACCCGCACGCAGAAATCTGTGCTGTAGCAGTCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTT	GATATACTGCGCCAGCCACCACTGCACCGTCATGTTCCAGTACCGCATGCCATCGCGCACCCGCACGCAGAAATCTGTGCTGTAGCAGTCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTNNNNNNNNNNNNNNNNNNNNN	pathogenic	309,914
Regarding the variant at chromosome 19 and position 54180936, affecting gene MBOAT7 (membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7): benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Intellectual_disability,_autosomal_recessive_57']	TCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTG	TCGATGTTGCGGATGGTCTCATAGTCATACTCCAAGGAAGCCGCCTTCTCCGGACTGGGGGGTGGAGGATGAGGGTGGGGGACAGACATGCAGCTCAGCCAGGCCCCCTCCCGACGCCTGCTAGTGTCCCAGCCCCGGATGCTAAGGAAGGGATCCTGGCCAGGCAATGGCCCTCTGGCTGTCAGACTTGCTAGGGCAGCAAGGGAGGGTGGCCCAGAGGGTGCCTGTAGGGTAGGAAGGTGGGTGGGCTGGGTGGTACAGTCCACTGACAATGGGGTTCTTCTTCTTTTGGTACCTAATGGGGCCCGCCACAGCCATGAAAAGCCTTGAAGGGCTATGGTTGCTAAGCTATGAGTCCTTTAGCAACCAAGCTCAGTATATTCAGAGAAGCCGCCAAGGATGGTCCCTTCTAAATTGTCGGACACTGCAGTTGCCAGGGAAGTTGTGGTTATCATCCCTAATAACAAGGTGCTTCACGGTTGCTAGGGAGATGTTCCAGGCGCCAGTGGGGTCCCCATGATCTTTGTTGCTAAGGAAAAGGCATTCCTTAGCAACAATGCCTAGGATGTTTAGAAAGGCTTTTAGGAAGGGGCTTTTTTCCTGGTCGCAGTGATTATTGGAGAAGTGTCACCTCTAGCAATACAGTGGCTCCCTCATCACTCATGTCGACAGCCCCAGCAGTGGGAAACACTGGCCCATATGAAGCCTTGGTGGCCTCTGATGACAGGAGGGGAGCCATCCTTTAGGAGTGAGGACCGAGCAGATTTAGAAAAACCTTCAATTCCTGCTTGGCTTTACTAGGGGGACATCCTCTCTCTAGCAGCTGGAGGTCAGGGCACGGTTATTAGGGCAGTGGTAACAAATTCCCGTGGGGGTGTCACTACCCCCACAACAGAATGGCAGTTTGTGACGACTAGGGGACAACCCTAGCAGGGAGTAGTAGTTCATCATTTACATCAACAGGCTGTTCCCCCAGCCGCAGTCCAAGCCCCTGGGGGAAGGCTGACTGCAGCTGTCAGGAACACAAGGGCAGTCTACTCCTGGTTGCCGGGGGTGCCATCTCCCTAGCAACACGGGGGCAATACTTCCTCAGCCACAAGAGAGTCCACAGCTATGGCCGTGCGACTTGCCTAGCAATGCAGGTGCCGGGGGGTGGAGCCTCTCTGGCAACAAGGGTCAACCCATAGTTTCCAGGGGGAGGTTTGGCTTCCTTAGCAACAGTGTAACTGTAGTTGGTAGGAATGGCGTGCCCTCTGCTGGGGAACAGCACTGGTCAGGGATTGGAAATTGCTATTTCCTTGCAGAGGGCTGCTGAGGGCTGCTATGTGAGGACATCCCACGGGGTGGAGCAGTGCTAGCTCCTAGCAACAAAGGGGCAGTGCAGGGAGTGCCGTATCTGCAGCAACAGAGCAAAACTTCTGGTAAAAAGGAGGTGAGCTACTGTTGCTAGGGATCCTGCTTCCCTAGCAAATAGTGGCGTTCTGTTGCTAGGGAACCGTTTCCCTAGCAACAGAGGGTGACCCACCACTAGCAAAGGATGGCATCCCCAGCAAGCAGGAACAATCTGGTTCTGGGGGGTGACACTTCTGTGGCAACAGAGGGGTGGCACAGGGTTGCTAAGTTACCACCTTTTCCTAGCGACAGGGGGCAGTTCACCACACTGCGGGGTGACAAGCGCTAGCAACAAGGGGCATCTGTCAGTACCAGGGATCTTTTCCCTACCGACAGGGGCTGGCAGGCCATGGTTGCCGAGGGGGCGACACTCTGCTCAAAAAGGTGGTGGCCCTGGCCCCTTGCTCCCCGCTCTCCTCCCGGCTAGGGGCAGAGCCAGCCCTTGGAGGTGGGGGCTGCTGGGTCTTGGGAAGCCTCCCTCGCGCCGCCTGACCTGCTGGGGGGTGGGCATTGGAGGGTGGGGCCGCCTCCGGCCCGGGCTTTGGCGGCCACGGGGTAGGCCCCAAAGCCGGCGGCAATGCAGCCGCACTCGGCGGCAATCCAGGCCACGTAGAAGCGCATGCGGAAGGCGAAGAAGACGGGGATCATGTAGAAGAGGCGGGCGGGCAGCGGGCGGGCAGCGGGCGGGCGTAGAAGGCGTCCTCGCGCACGGCCTCCAGCGGGAAGAGGTGAGAGGAGAGCAGGAACAGCAGGCCGAAGAGCGGGGCCGGCCAGGCGCGGCGCAGCAGGGGCCGCAGGCTGGGCACTGCCCCGGGGAAGGGCTGCTCCAGCCAGTCCAGGTAGGTGCGGTAGCGGAAGAACGGGCCTGTGGGGCGGGGAGGGAGGGCCGCGGTCAGACAGGCAGGTGGGCAGAGCTCAAGTCTGCAGGAGGAGGACAGGGAGCTTGGAAGGAAGGTGGGAAGAGGGAGTGAGAGGGGCAGAGACTGGGCGCCGGGGAGACCCCAAGGGTAGGGACTGAGACCCTGAGAGATGGGGATAAGGAACGAGAGACAGGGGGGACAAGAAACTCAGAGAGACAGAGACAGTAACAGAAAAACAGACAGAGGGGCCGGTGCGGTGGCTCACACCTGGAATCCCAGCACTTTGGGAGGCCTAGCTGGGAGGACTGCTTGAGCCCAACAGTTGGACAGCAGCCTGGGCAAAACGGCAAGACCCCATCACTACAAAAAATAAAAATCAGCCAGGTGTGGAGGGCACCTGAATTCCCAGCTACTGGGGAGGCTGAGGCGGGAGGATCGTTTGAGCCCAGGCTGCAGTGAGCAGTGACTGAGCTACTGCATTCCAGCCAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGTGAAGAAGGGAAGAAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAGGGAGGGAAGGAAGGAGGGAAGGAAGGAAGAAGGGAAAAGGGAAGGACGGAGGGAAGGAGGAAGGAAAGAAACTAGGAGATAGCTGTGGCACTTTAGCTACAATATGATGGTGGTCTGGCCTAGGGAGGAAGCAGTGTGATTCACAGAAGGGACCGGGGTTAAAATTTTTATATGTTCACAAAGGCCGTATGTTTAGGTCAATGTAGCATGGGAAGATAAAAGGAAAAAAAAAACAAATTAAAATAAATAAATAAGACCACATGTTGTATGATTCCATTTGTAAGCGCAATGTCCAGAACAGGCAAATCTTTACAGATAGAAAGTCAATTACTGGTTACCAGGGATGGATGGAGGTTTGTGGGATGATGGACATGGGGTTTCTTTGCAGGGTATGAAACTGTTCTGAATATAACTACACAGTGGTCATGTCTGCACAACTCGGTGAATATACTAAAAATCAGGGAGTTGTATGTTTTGTGTTTTGTTTTTTTTCAGGAAATTAAAGAAGCCAAGAGTTGTATGTTTTAAGTGGATGAGTATGTGAATTAGAGTTCCCTAAAGCTGTTATTGGAAAAAAAACCTTTGATGAGGTAAACATTAATGAAAAATATTTTCTTTTTAAAATTTCACATATATATACACATACACACATACATATATATACACACATGCACACACACATACATATGTATTTTTTGAGATGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAAACTCCGTCTCGTGGGTTCAAGCGATTCTCCAGTTTCAGCCTCCCAAGTAGCTGGGATTACAGGCACACACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCTGTCTCAGCCTCCCAAAGTGCTGGGA	pathogenic	309,915
Evaluate if the mutation on chromosome 19 at position 55014735 in GP6 (glycoprotein VI platelet) is benign or pathogenic. Disease name(s) if pathogenic?	benign	CTGCATATCAACATTCAGTATCACATTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACGACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTGAGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAGTATCACATGTTTATACCCACAGATATTCGCAGCCGAGAATTTTCGGGTAATATAACTTGCTTCTTTTATTTTTGTTGTTGTTATTGTTCCCCTAAAGTTTATATTTGTTTTTTATTTTTATTTTCTTTTGAGGCAGGGTCTCACTCTGTCACCCAGGTTTGACAGCAGTGGTGCAATCATGGCTCACTGCAGCCTCAACCTCCCCGGGCTCAGGTGATCCCCAACCTCAGCCTCCTGAGTACCTGAGAGTAGGCATGTGGTACCACACCCAGCTAATTTTTTATATTTTTTGTATATGAGACAAGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCTTAGGCTCAAGCGATCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTAGGCTATACTGGTCTTTTTAAAATCTACTTAGTTTACTTGACCTCTAAAATTATTTTTCCTCTGTCTTCTGATAGCATCTCAGTATGATTTTCCACTATGTTAAGACGAGGAATTGACCCATTCTTACATTTGGAGGCTTCTCTAAGCAACTTTCCCATTCCCCCTTCACCCAAGCTGTGTGCTCACTAGCCCTGATTCACAGCCGTCGTCCTGGAACTTCTTGGTGCCATCCTTCTGTCTTTTCCCAAGTGACTCACCTACCTCAACCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGTGGCCAGCCATTCTTTTCCTTTTTTAAAACAATTTTTATCTTCTTTATTTTAAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCACAGTGCTAGGATTACAGACATGATCCACTGCACTTGGCCCAGTGGTACAGTTTTACACTCATTAGATGGTCAAGAAATGCCTAAACGCTATAATAAATATAGAACTTTACCTTGAGAAGACCTAACATTTCCTTCAGAAAGTAAATATGAGAGGGGTGGAGACGGTGCATTATCTTATTTTTATGATTTTAAAAATGTATACAGAATTGTACATATTTATGGGGTGGACAGCAATATTGCAGTACATGTATACAACGTGCTATGATCAAATCAGGGTAATTGACATATTCATCCCTGTATTTTTTGAGACAAAGTCAGGCTTCGTCACCCGAGCTAGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCCATTCTCCCACCTCAGCCCCCTGAGTTGCTGGGAGTATAGGGATGCACCACCACACCTGGCTAATTTTTGTGTTTTTTTGTTTTGTTGGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGATCTTGTTTTCTAATGTGAAGGGAAGCGGGCAACGTGCTAGTTTTACACTAAGGAAAATGAATGACATACCCAAACTGCCTGCAAGACCCGTTCTGAGAGACGAAAGGAGATTTGTTAGACCGCAGTGGGAGATGGAGTGAGGGTGAGAGTTTCTGGGGAAAACCAGACAAGAGCACAGAGGGCCAAAGGGAAGCACGGGAGGATTTTGCACAGAGGATGGAACAGAGTCAACCCTGAGAGCTGGGAACCTTAGAGATCCGTCTGGAGCCCATATTAGAGAGGTTGAAGAAAGAGGCCAGTATGTGGTCCAGCCAGGGTACCATGTCATCCACAGTGTGCAGGGAGGAGGATGGGGTCTCCACAGATTCCTTCCATCCCAAATGGAGGGTGCCCTCAGACAGAGAGGCAGACAGACAGACAGACACTGGCCGAACGGCTCCCTGATGGAACACCAGGAGGAGGCAGCATGGCCTCGTTTCCACAGCTGTAGCCTCTGCCCTCCTGCTTCCACGCTCCACACACGCCAGTCTTTGAGTCGCCTCCCATGCCATGATCCCTCCCTTGGATACGACCGTGCCTGGGGTTCAGCGGTCATGAACATAACCCGCGGCTGTGAACATCCTGTCGGCCTCCATCCTGACCCCCGTTTGATTTCCGGGTCAGCGGGAGGGGCGGGAGGGGCGGAAGCGGCCTCTGCACAGCCCTGCCCCTGTGCCGCAGGCGCTTCCTCCGGCTGTGCCAGTCCTCTGCCAGAAACCCCGCCAGGATTATTAGGATCACAGCCCCGAGGCATATCCGGACCAGGTTGCCCTTGGTGTAGTACTGGCGGGCAGGACCTGGAGGAATGAGGAGAGGCAGGAGCAGGTGAAAGAGCCCACCTCCAGGACCCCCTCCAAGCCACATCTGGGCTTCTCAGAGATCCTATTATTCTCTACTAGCTAGGGGATGCCGCTCACTTTCCTGGAGGGTCCCTCCCTTCCCGAGTAGGGGTCAGGGCCAGATGACCCCAATTCTCTAAGTAGCACCTCTCCCTCCTGTGCTCTCACAGGGCTCTGAGACAACTCCTCCCCAGACACAGATGCTGCCTCGTTATCTGATGCATTGCAAAAGAGAGGACAGTTATAAGGGGTGGGGAAGAGATGGAATCTCTCTTTCTCTGACCCTTTTTAAAATCTCAACCTTCCCACCTGATCTTAATGCCCAATTCTGAACCCCATACGCTGATATTCTGCCTTTACTCTACACACTGGAACCCAAGATCTGAGAGCTGCAGCCCCTGCGTAGACAAAGGAGTTGGCTTTGGTGAAGAGACGGGTGAGAAGGAAGGGGGTCTGGAGAGGATGACTTACTCACCAGCTGGAGAGTCTGACTCCTTTGGACTGGCGGTGATACTCCTAGAAGTCTCTGGGAACCAAACAAAGGCTAAGTGTGAAATGAAACCATATTCCCGCCCCCTGTCACTGTGCCTACTCCGAACACACACACACATGGGGAGGCACAATTCCACAGCATTTAAGAAAAGCATGGGCCGGGCACGGTGCCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTAGGAGGCTGGCTTGAGTCCAGGAGTTCAAGACCAACCTGAGCAACATAGAAAAACCCTATCTCTACAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCAGTAATCCCAGCTACTCAGTGGAGGCTGAGGCAGGAAGATCACCTGAGCCCTGGGAGGTTGAGGCTGCAGTGAGCCAGGATTGTACCACTGCACTCTAGCCTGGGAAACAGAGCGAGACCCTGTCCAAAAAAAAAAAAGCAAGAACTGTAGAGTCAGGCTGTCCTCCAGATTTGAACCCCAACTCTATCACCTATTAGATGTCAGTTATCTGGCAAGTGACTCAGCATCTGTGAGCCAGTTCCCCATGTGTCCAATAAAATTAACAAGATCCCTTATAGGTTGATGTGAAAGTCAAGATAATAATAATGGTAGAAATATAAAGCACCGTGCTTGACATATGAGCACCTCATACGTGCCAGCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCCCGATGTCGGCTCACTTCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGTTGGTTTTGAACTCCTGACCTTGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCCAGCTCTCTTATTCCTCAAGTATCTCCTGAGACTCGCCAGGTACTCAGCCATGTGCTGGGCCATGGGAACCCAAATATTAATAAGACATTGTCAGGCCAGGCATGAC	CTGCATATCAACATTCAGTATCACATTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGCAATCTCAGCTCACTGCAGCCTCAGTCTCCTGAGTAGCTGGGACTACAGGCGTGTGCCACCACGACTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCTGAGCTGGTCTCGATCTCCTGACCTCGTGATCTGCCCACCTCAGCCTCCCGAAGTGCTGGGATTACAGGCATGAGCCACCACGCCCGGCCAGTATCACATGTTTATACCCACAGATATTCGCAGCCGAGAATTTTCGGGTAATATAACTTGCTTCTTTTATTTTTGTTGTTGTTATTGTTCCCCTAAAGTTTATATTTGTTTTTTATTTTTATTTTCTTTTGAGGCAGGGTCTCACTCTGTCACCCAGGTTTGACAGCAGTGGTGCAATCATGGCTCACTGCAGCCTCAACCTCCCCGGGCTCAGGTGATCCCCAACCTCAGCCTCCTGAGTACCTGAGAGTAGGCATGTGGTACCACACCCAGCTAATTTTTTATATTTTTTGTATATGAGACAAGGTTTCACCATGTTGCCCAGGCTGGTCTCGAACTCTTAGGCTCAAGCGATCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTAGGCTATACTGGTCTTTTTAAAATCTACTTAGTTTACTTGACCTCTAAAATTATTTTTCCTCTGTCTTCTGATAGCATCTCAGTATGATTTTCCACTATGTTAAGACGAGGAATTGACCCATTCTTACATTTGGAGGCTTCTCTAAGCAACTTTCCCATTCCCCCTTCACCCAAGCTGTGTGCTCACTAGCCCTGATTCACAGCCGTCGTCCTGGAACTTCTTGGTGCCATCCTTCTGTCTTTTCCCAAGTGACTCACCTACCTCAACCTCCCAAAGTGCCGGGATTACAGGCGTGAGCCACTGTGGCCAGCCATTCTTTTCCTTTTTTAAAACAATTTTTATCTTCTTTATTTTAAGTAGAGATGGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGCGATCCTCCTGCCTTGGCCTCCCACAGTGCTAGGATTACAGACATGATCCACTGCACTTGGCCCAGTGGTACAGTTTTACACTCATTAGATGGTCAAGAAATGCCTAAACGCTATAATAAATATAGAACTTTACCTTGAGAAGACCTAACATTTCCTTCAGAAAGTAAATATGAGAGGGGTGGAGACGGTGCATTATCTTATTTTTATGATTTTAAAAATGTATACAGAATTGTACATATTTATGGGGTGGACAGCAATATTGCAGTACATGTATACAACGTGCTATGATCAAATCAGGGTAATTGACATATTCATCCCTGTATTTTTTGAGACAAAGTCAGGCTTCGTCACCCGAGCTAGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCTGCCTCCCAGGCTCAAGCCATTCTCCCACCTCAGCCCCCTGAGTTGCTGGGAGTATAGGGATGCACCACCACACCTGGCTAATTTTTGTGTTTTTTTGTTTTGTTGGTAGAGATGAGGTTTCACCATGTTGCACAGGCTGATCTTGTTTTCTAATGTGAAGGGAAGCGGGCAACGTGCTAGTTTTACACTAAGGAAAATGAATGACATACCCAAACTGCCTGCAAGACCCGTTCTGAGAGACGAAAGGAGATTTGTTAGACCGCAGTGGGAGATGGAGTGAGGGTGAGAGTTTCTGGGGAAAACCAGACAAGAGCACAGAGGGCCAAAGGGAAGCACGGGAGGATTTTGCACAGAGGATGGAACAGAGTCAACCCTGAGAGCTGGGAACCTTAGAGATCCGTCTGGAGCCCATATTAGAGAGGTTGAAGAAAGAGGCCAGTATGTGGTCCAGCCAGGGTACCATGTCATCCACAGTGTGCAGGGAGGAGGATGGGGTCTCCACAGATTCCTTCCATCCCAAATGGAGGGTGCCCTCAGACAGAGAGGCAGACAGACAGACAGACAGACACTGGCCGAACGGCTCCCTGATGGAACACCAGGAGGAGGCAGCATGGCCTCGTTTCCACAGCTGTAGCCTCTGCCCTCCTGCTTCCACGCTCCACACACGCCAGTCTTTGAGTCGCCTCCCATGCCATGATCCCTCCCTTGGATACGACCGTGCCTGGGGTTCAGCGGTCATGAACATAACCCGCGGCTGTGAACATCCTGTCGGCCTCCATCCTGACCCCCGTTTGATTTCCGGGTCAGCGGGAGGGGCGGGAGGGGCGGAAGCGGCCTCTGCACAGCCCTGCCCCTGTGCCGCAGGCGCTTCCTCCGGCTGTGCCAGTCCTCTGCCAGAAACCCCGCCAGGATTATTAGGATCACAGCCCCGAGGCATATCCGGACCAGGTTGCCCTTGGTGTAGTACTGGCGGGCAGGACCTGGAGGAATGAGGAGAGGCAGGAGCAGGTGAAAGAGCCCACCTCCAGGACCCCCTCCAAGCCACATCTGGGCTTCTCAGAGATCCTATTATTCTCTACTAGCTAGGGGATGCCGCTCACTTTCCTGGAGGGTCCCTCCCTTCCCGAGTAGGGGTCAGGGCCAGATGACCCCAATTCTCTAAGTAGCACCTCTCCCTCCTGTGCTCTCACAGGGCTCTGAGACAACTCCTCCCCAGACACAGATGCTGCCTCGTTATCTGATGCATTGCAAAAGAGAGGACAGTTATAAGGGGTGGGGAAGAGATGGAATCTCTCTTTCTCTGACCCTTTTTAAAATCTCAACCTTCCCACCTGATCTTAATGCCCAATTCTGAACCCCATACGCTGATATTCTGCCTTTACTCTACACACTGGAACCCAAGATCTGAGAGCTGCAGCCCCTGCGTAGACAAAGGAGTTGGCTTTGGTGAAGAGACGGGTGAGAAGGAAGGGGGTCTGGAGAGGATGACTTACTCACCAGCTGGAGAGTCTGACTCCTTTGGACTGGCGGTGATACTCCTAGAAGTCTCTGGGAACCAAACAAAGGCTAAGTGTGAAATGAAACCATATTCCCGCCCCCTGTCACTGTGCCTACTCCGAACACACACACACATGGGGAGGCACAATTCCACAGCATTTAAGAAAAGCATGGGCCGGGCACGGTGCCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGTAGGAGGCTGGCTTGAGTCCAGGAGTTCAAGACCAACCTGAGCAACATAGAAAAACCCTATCTCTACAAAAAAATACAAAAATTAGCCAGGCGTGGTGGCACGTGCCAGTAATCCCAGCTACTCAGTGGAGGCTGAGGCAGGAAGATCACCTGAGCCCTGGGAGGTTGAGGCTGCAGTGAGCCAGGATTGTACCACTGCACTCTAGCCTGGGAAACAGAGCGAGACCCTGTCCAAAAAAAAAAAAGCAAGAACTGTAGAGTCAGGCTGTCCTCCAGATTTGAACCCCAACTCTATCACCTATTAGATGTCAGTTATCTGGCAAGTGACTCAGCATCTGTGAGCCAGTTCCCCATGTGTCCAATAAAATTAACAAGATCCCTTATAGGTTGATGTGAAAGTCAAGATAATAATAATGGTAGAAATATAAAGCACCGTGCTTGACATATGAGCACCTCATACGTGCCAGCTTTTTTTTTTTTTTTTTTGAGACAGAGTCTGGCTCTGTCTCCCAGGCTGGAGTGCAGTGGCCCGATGTCGGCTCACTTCAACCTCCGCCTCCTGGGCTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCAGCTAAGTTTTGTATTTTTAGTAGAGATGGGATTTCACCATATTGGCCAGGTTGGTTTTGAACTCCTGACCTTGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCTCCAGCTCTCTTATTCCTCAAGTATCTCCTGAGACTCGCCAGGTACTCAGCCATGTGCTGGGCCATGGGAACCCAAATATTAATAAGACATTGTCAGGCCAGGCA	benign	310,010
A genetic alteration at chromosome 19, position 55133961, in gene TNNT1 (troponin T1, slow skeletal type)—benign or pathogenic? If pathogenic, which disease(s) is involved?	benign	CCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCTTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGGCCGGTGCAGTGATTCACACCTAAAATCCCAACACTTTCAGAGGCTGTTGTGGGAGGATCACTTGAGCCCAGGAATTCAAGGCTGCAGTGAGCCGTGATCACGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACCCTGTCTCTAAAAATTAAAAATAAAAATGCTACTATGAACATTCATGTACAAGCTTTTGTGTGGACAAAGGTTCTTGGTTCTCTTGGATATACATCCAGGAGGGGAACTGCTGGGTCCTGCAGAAATGCTTTCACTTGTTGAGGAACCGCCAGGCTGCTTGCAAAGCTGTTGCATTTTCCATTCCCACCAGCAGTGTGTGAAGGTTCAGCCTGCCGTACTTTAATGATTATTGGTGACACTCTTTCAAGTAACTTGTTGGTAATAAGAAGTCAATTAACCAGGAGAGACCAGCTGCATCTCAACCATAATAACATCAGAGAACCCAGCGGGTGTCTGAGGGGAGCGTTTATTTCAAGCTACCGATGGGACAAACACTCCCAGGCTTCCCAGGTGCCACTGTCCGGGGCGGCATCCTCACTTCCAGCGGCCTCCAACGCGGCCCTTCCCTGCCCCCTTCCGGCTGTAGAAGAATGAGGTGGTATCAGGAAAAAGGGGCCCCTCCAGTCTCTGAAATGGGCCCCAGGCCCTCAATTCAGGAAGCCCATTCCCCAAAATATTAGCCCTCCCTGCCCAGAGGAAGCAGTGAGCAAAACAACTGTCACCTCTTTTGGGTTCTATGACTGGGGGGCAGCGGCTGGTGGTCAAAGCCTCGCTGACATGTGGGAGCTGATATTTGGGGGCGAGTGCAGGGTGTTCATGGGGGAGCTGATGAATGTTTATGAGTCAGGGGCCAGGGTGGGGGGAGGAAGGGTTGGATGATCTGGGCATGGGTGGGTAACACGCAGGAAGGGCTGGGGTGAAAGAGACAGGAAATGGGAGAAGAGGAGAAGGGAGAGGGAGAGGAGGGAGGAAGGAAGAGGGAGTGGAGAAACAGAGAGATTCAGGGAAGACCCTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGCTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGATGGAAGTTGCAGTGAGCTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCAGTCTCAATAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGGAACTGAGACCCAGGATTCCGAGAGCAGAGAGAGGAGGACAGAGAAGGAAGGACAAAGAGAAAGGGGCAGAAACTCAGGCAGTGGGGGATGGAGCCCACAGAGGGAGGGAAAGAGGCCTGAGAGTCAGCGGGAGGGTAGGGACAAGAGCAAGGGCTTGAGACGGTCACACTCACAACTTCTGGGCGTGGCTGATGCGGTTGTACAGCACGTTGATCTGCGGAGGCAGAAGACAGATGCTGGGACAGCCGGTGGGGACGTGGGGACGGGCCACCCACCCCTGCCTGGAGTTTGCTGGTCCCTCCCAGCCCAGCCCTGCCCTCTCTCCCTCCCTCCCTGCGGAGCTGGGTCTCACCTCATATTTCTGCTGTTTCAGCTTCGCCATCAGGTCGAACTTCTCAGACTCCAGCTGGTGGATCCAGTCCGACAGCTCCTGGGCTTTCTCCCTGGCAGGGCAGGAGGGCTGTGATGGAGGCAGCCAGGCAGACCGGGCCCTAGGCCCAGGGACGGAGAGGAACTTGGGCCCAGAGAGGTTGTGGGAACCACCCAAAGCCACACAGCGAGACTGTGAGTTCAGCGTTGTCGGCACCATTTTGTTCATATTTGAGGCCGAGAGTTTTAAAATCTGTGCCCACTTTCTCCACATCCGAGCTGGAGCTCTCGCATTTCCCAAGGGGAGAGAAGGGTGTCATGATTAAGAGACCAGGCTCGGCACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCCAGCAGAACACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAAAGAGAGACCCCGTCTCTGCTAAAAATAATTAAAAAAATTAGCCAGGCAGGGTGTTTCCGGCTACTTGGGAGGCTGAGGCAGAAGGAACCTGGGAGGTCAAAGCTGCAGTGAGCTGTGATTGCACCACTGTATTCCTGCCTGGCAACAGAGCAAGACAAAAGAAAGGAAAGAAAAGGAGAAAGGAAAGTGGGGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAGAAGAAGGGGAGGGAGGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGGGGAGACGAGGGGAAGGGAGGGGAGGGGAGAGGGGAAAGAAAAGGAAGAAAGAAAAGACCGAGCCCAGGCTCTGCAGTTAGAAGCCCCTGGTTCAATTCCCAGCCATGCCATTCTCTGGTTTATGAATATGTCACATGACTTCCTTTAGAATCCTGTTTCCTTCTCTAGAAAATATGGAAATAAAACTGTGGAAGAGATGGCTGCTTGCCTACCTGTTAGCCCTTCTCCCTTTCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGAC	CCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCTTGCCATTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGGCATGGTGGCTCACACCTGTAATCCCACCACTTTGGGAGGCTGAGGCGGGAGGATCAGCTGAGGTCAGGAGTCTGAGACCAGCCTGACCAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGTTGGTGGGCACCTGTAGTCCCAGCTGCTTGGGAGGCTGAGACAGGAAAATTGCTTGAACCCGGGAGGTGGAGGTTGCGGTGAGCCGAGATCATGCCACTGCACTCCAGGCTGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGATGCTGCGGCCGGTGCAGTGATTCACACCTAAAATCCCAACACTTTCAGAGGCTGTTGTGGGAGGATCACTTGAGCCCAGGAATTCAAGGCTGCAGTGAGCCGTGATCACGCCACTGCACTGCAGCCTGGGCGACAGAGCAAGACCCTGTCTCTAAAAATTAAAAATAAAAATGCTACTATGAACATTCATGTACAAGCTTTTGTGTGGACAAAGGTTCTTGGTTCTCTTGGATATACATCCAGGAGGGGAACTGCTGGGTCCTGCAGAAATGCTTTCACTTGTTGAGGAACCGCCAGGCTGCTTGCAAAGCTGTTGCATTTTCCATTCCCACCAGCAGTGTGTGAAGGTTCAGCCTGCCGTACTTTAATGATTATTGGTGACACTCTTTCAAGTAACTTGTTGGTAATAAGAAGTCAATTAACCAGGAGAGACCAGCTGCATCTCAACCATAATAACATCAGAGAACCCAGCGGGTGTCTGAGGGGAGCGTTTATTTCAAGCTACCGATGGGACAAACACTCCCAGGCTTCCCAGGTGCCACTGTCCGGGGCGGCATCCTCACTTCCAGCGGCCTCCAACGCGGCCCTTCCCTGCCCCCTTCCGGCTGTAGAAGAATGAGGTGGTATCAGGAAAAAGGGGCCCCTCCAGTCTCTGAAATGGGCCCCAGGCCCTCAATTCAGGAAGCCCATTCCCCAAAATATTAGCCCTCCCTGCCCAGAGGAAGCAGTGAGCAAAACAACTGTCACCTCTTTTGGGTTCTATGACTGGGGGGCAGCGGCTGGTGGTCAAAGCCTCGCTGACATGTGGGAGCTGATATTTGGGGGCGAGTGCAGGGTGTTCATGGGGGAGCTGATGAATGTTTATGAGTCAGGGGCCAGGGTGGGGGGAGGAAGGGTTGGATGATCTGGGCATGGGTGGGTAACACGCAGGAAGGGCTGGGGTGAAAGAGACAGGAAATGGGAGAAGAGGAGAAGGGAGAGGGAGAGGAGGGAGGAAGGAAGAGGGAGTGGAGAAACAGAGAGATTCAGGGAAGACCCTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCACGCTTGGTGGCGCGCACCTGTAATCCCAGCTACTCAGGGGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGATGGAAGTTGCAGTGAGCTGAGATCACTCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACGCAGTCTCAATAAAAAAAAAAAAAAAGAAAGAAAAAGAAAAAGGAACTGAGACCCAGGATTCCGAGAGCAGAGAGAGGAGGACAGAGAAGGAAGGACAAAGAGAAAGGGGCAGAAACTCAGGCAGTGGGGGATGGAGCCCACAGAGGGAGGGAAAGAGGCCTGAGAGTCAGCGGGAGGGTAGGGACAAGAGCAAGGGCTTGAGACGGTCACACTCACAACTTCTGGGCGTGGCTGATGCGGTTGTACAGCACGTTGATCTGCGGAGGCAGAAGACAGATGCTGGGACAGCCGGTGGGGACGGGCCACCCACCCCTGCCTGGAGTTTGCTGGTCCCTCCCAGCCCAGCCCTGCCCTCTCTCCCTCCCTCCCTGCGGAGCTGGGTCTCACCTCATATTTCTGCTGTTTCAGCTTCGCCATCAGGTCGAACTTCTCAGACTCCAGCTGGTGGATCCAGTCCGACAGCTCCTGGGCTTTCTCCCTGGCAGGGCAGGAGGGCTGTGATGGAGGCAGCCAGGCAGACCGGGCCCTAGGCCCAGGGACGGAGAGGAACTTGGGCCCAGAGAGGTTGTGGGAACCACCCAAAGCCACACAGCGAGACTGTGAGTTCAGCGTTGTCGGCACCATTTTGTTCATATTTGAGGCCGAGAGTTTTAAAATCTGTGCCCACTTTCTCCACATCCGAGCTGGAGCTCTCGCATTTCCCAAGGGGAGAGAAGGGTGTCATGATTAAGAGACCAGGCTCGGCACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCCAGCAGAACACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACAAAGAGAGACCCCGTCTCTGCTAAAAATAATTAAAAAAATTAGCCAGGCAGGGTGTTTCCGGCTACTTGGGAGGCTGAGGCAGAAGGAACCTGGGAGGTCAAAGCTGCAGTGAGCTGTGATTGCACCACTGTATTCCTGCCTGGCAACAGAGCAAGACAAAAGAAAGGAAAGAAAAGGAGAAAGGAAAGTGGGGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAGAAGAAGGGGAGGGAGGGAGGGGAGGGGAGACGAGGGGAGGGGAGGGGAGGGGAGACGAGGGGAAGGGAGGGGAGGGGAGAGGGGAAAGAAAAGGAAGAAAGAAAAGACCGAGCCCAGGCTCTGCAGTTAGAAGCCCCTGGTTCAATTCCCAGCCATGCCATTCTCTGGTTTATGAATATGTCACATGACTTCCTTTAGAATCCTGTTTCCTTCTCTAGAAAATATGGAAATAAAACTGTGGAAGAGATGGCTGCTTGCCTACCTGTTAGCCCTTCTCCCTTTCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACNNNNNNNN	benign	310,064
Variant on chromosome 19, at position 55137107, affecting TNNT1 (troponin T1, slow skeletal type): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Nemaline_myopathy_5']	TCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACATTTTGCCCCCTGGAGAGCAGCTGTTAAACATTTACCATGAAGCCACTTTACAGCACACTAGCAAAGAGTACGGACTATTGCACCAGACTGCCGGGTTCAAATCCCAGCTCTTCCACTTGCTAGCTGTGCAACCCTGGAAGGGTTACTTAACCTCTCTGTGCCTCAGGTTCCTCACTATTAACACAAGGATAATAATAGTATCTACCTCACAGGGTTGTAAACCCTCCACAGGAAGCTGCTGCTGTAATTATTATTTTTTTAAGGATGGGGTCTCACTACATTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGCAATCCTCCCATCTTAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGGGCCCAGCCTGTAATTATTATTACTATCTCACTGCCCTTTCACAGCTCTGTGAGGTCAATTTTGTGATTATATCCTTGTTCTGCCAATGAGGAATGGGAGCCCCAGAGAAGTCAGATAACGTGCGCAAGATCACAAAGTAGCCGGCAAAGCTGGCACTGAGCCCTGGGCAGGGGCTTTCGGTGCAAGCGGCAAACCCGATCACGGCGCCACTCTGGGGTGGTTGAAGTTTCTGAGCCACAGCCCAGGCCAGAGAACATGGAGAAACAGGCGGGCTCCTGAAGGCAAGCCCCCACCAGCCTGCCGTCCTGTAGCTTATCATGAGAGGCAGGCTGTCTTGGCTATAGATGCGAGGGACTCAGCTGGAAAATTCTCACCCGCATTCCTGGCTTGAATTTAGGTAAAAGGCACAGCCCATCCTGAGCTCCAAGGCACATCACGGAGTTAACAAAATCTCCTAAACTTGGGGGAGGGAAGTCATCTTGTCTGGCTTCCTTGGTAACACCTGTCAGATGCTACAGGCCACGGCAGCCACGAAAAGTGGGTTCAGTGACATGTTTCACAAAGAAGGCAGCAGAGGCCCAGAGAGGGGAAGCCACTTGCCCAAAGTCACATAGCACTGGAGCTGAGACCCGGAGTATCTGCCCACCCAGATCTGGGTGTGAGCTCCTTTATCCCCCTGTCTCACACCCAGGCCCCTACACCCCGAGCCCCCCACAGCACCTACCGGAGCTGTTCCTCCCCCATGTAGTCAATGTCCAGAGGCTTCTTACGCTCGGAGAGGATGCGCACCTTCATCTCCCGCCCCGTCTGCCGCTTACCACGCTTCTGTTCTGCCTGAGGGTGGGGGAGGCGGAACAGTAAACTGGGGGCCACATCCCACAGAGCACTGCCGTGTCGGGACCCACACGTCGGATCCCACAGACCATTTCCATGTTGGGACCACAGGTCTGCACCCCAGGCCCATCTCCTTCAGACCTAGGAGTCCAGCCCCACTCCCTCCTCCCTCAGATTCAGGAGGAGTCCAGACCCCCAGTCCCTTCTCTTAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGATTGCAGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGTGCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGGCCCTCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGGACCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGACCCCAGCTCCTCCTCCCTCAGACCCAGGAGTTCAGGGCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCTCAGCCCCTCCTCCGTTAGGAACCAGAGGTCTGGCCCCCAGCCCCTGCCCCCTCAGAACTCAGACCTCAGGCTCCTGCAGGCTGACTCACCTTGACCAGGTAGCCGCCAAAATGGGCCCCCATGTTGGACAGCACCTTCTTTTTCTTGGCATCATCCTCTGCCCGCTTCTTGGCCTCTTCCTCTTCCTTCCTCATCTTCTCCTCCTGTGGGAAGTAAGGGGTTAACCTCATGGACTCCCCTGTAGGACTGAGGGAGGAGGGCCCTGGGATGTGGAACTGGGGCACAGGGATCAGCAGACCCAGTGCCGCAGAGGCTGCTGGGACATCAGAACCAGCAGAAACGCAGGGGTACCCACTCCCGGCCCTGCCACGTCTCCCCGTGTGACCACCTACAAGTCCCTTCCCCTCTGTTTTTTTTTTTTTTTGAGACGGACTCTCGCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCGCGCCCAACTAATTTTTGTATTTTTAGTGGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTACTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCCTTCTCTGGGTCTTAATATCCTCCCAGAAAAAATCGAAATGAAGGAGAAGAAGAAATGCCTGCTTTTTCTGCATGTCTCCACCCTGAAATAGCCGATAGTGAACTCTGCTGTACGACCTCACTCCAGATGCTCAGCCTGTCTGGGCCACAGTCGCCCTTAGTCTCAGGATATGAGAATGTCTGTTTTGAGGGGGTCAAGGGAAGTAACTGGTGATAAGACCAGGGACTGGGGAGATTAAAGAGGCTGATGGCCTTGAGCCTGAGGAAGGGGTTCTGGAATATTGAGCGAAGGCATTACGACATTCGAGAAACTCTTCATTGAATGTTCCAGAAACAGTGGTTTGTCCAGGCTGAGCCCCGTCTCCTTATGGTGGACATGAGGCTTTTTGTACACCCAGCACTCCGTACCTGAATTAGTTTCCTTTCTGTTTTTGAGATGGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCTGTTCACTGCAACCCCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAACTGGGATTACAGACATGTGCCACC	TCTTCTAGAAATAGCCTCTTGTGCATTAGGCTGAGTTGAAAAACTACTTTGCCCAATCTCCCTTGCAGGTAGGGGTGGCTACTCAGACGAAAGCAGGTCACTGGGTGCGGCTTCCAAAAGAGACTGTGTGGCTCTTCTCTTGCGTCTTCTTTCTGCTGCTTGGATCATCCATGTGAGGCTGGAGCTAGCAGCTATATTGGACTAAGTGATTTTGAGGATGGAAATATTGGGCTAAAAGTAGTGAGTGAAGCAGAAAACATAGGAGTCTGGTCTCTGATTTTGTAGAATTGCCATACCAGCCCTGGACTAAAACCTACCTTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTCTTTTCTTTTTTTTTTGATAGGGTCTCACTTTGTCACCCAGGCTGGAGTGCAGTGACACCATCACAGCTCACCGCAGTCTCAACCTCTCAGGCTCTAGTGATCCTCTCACCTCAGCCTTTTTTTTTTTTTTTTTTTAAGACAGAGTTTCGCTCATGTCGCCCAGGCTGGAGTGCAGTGGTGCCATCTCGGCTCACCGCAACCTCCGCCTCCTGGGTTCAGTGATTCTCCTGCCTCAGCCTCCAGAGTAGCTGGGATTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTTCATCATATTGGTCAGGCTGGTCTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCGCCGCGCCCGCCCGGCCAACAATACTTTACATGAACCATGTGCACAGGAAGGAGGGCCCACAGCGCCCCCCAGAGGGCTTCCAGGAGCCTGCTGTGCACATCCTTTCCCGTCTCCACACTCAGTGTCCCCACACGGGTAGTTTGAAAGGAGCAAGGTGGAAGTATTTACGCCCTGGGAATGGGCATGTGCTAAATCTAGACATTTTGCCCCCTGGAGAGCAGCTGTTAAACATTTACCATGAAGCCACTTTACAGCACACTAGCAAAGAGTACGGACTATTGCACCAGACTGCCGGGTTCAAATCCCAGCTCTTCCACTTGCTAGCTGTGCAACCCTGGAAGGGTTACTTAACCTCTCTGTGCCTCAGGTTCCTCACTATTAACACAAGGATAATAATAGTATCTACCTCACAGGGTTGTAAACCCTCCACAGGAAGCTGCTGCTGTAATTATTATTTTTTTAAGGATGGGGTCTCACTACATTGCCCAGGCTGGTCTCCAACTCCTGGCCTCAAGCAATCCTCCCATCTTAGCCTCCCAAAGTGCTGGAATTACAGGCATGAGCCACCGGGCCCAGCCTGTAATTATTATTACTATCTCACTGCCCTTTCACAGCTCTGTGAGGTCAATTTTGTGATTATATCCTTGTTCTGCCAATGAGGAATGGGAGCCCCAGAGAAGTCAGATAACGTGCGCAAGATCACAAAGTAGCCGGCAAAGCTGGCACTGAGCCCTGGGCAGGGGCTTTCGGTGCAAGCGGCAAACCCGATCACGGCGCCACTCTGGGGTGGTTGAAGTTTCTGAGCCACAGCCCAGGCCAGAGAACATGGAGAAACAGGCGGGCTCCTGAAGGCAAGCCCCCACCAGCCTGCCGTCCTGTAGCTTATCATGAGAGGCAGGCTGTCTTGGCTATAGATGCGAGGGACTCAGCTGGAAAATTCTCACCCGCATTCCTGGCTTGAATTTAGGTAAAAGGCACAGCCCATCCTGAGCTCCAAGGCACATCACGGAGTTAACAAAATCTCCTAAACTTGGGGGAGGGAAGTCATCTTGTCTGGCTTCCTTGGTAACACCTGTCAGATGCTACAGGCCACGGCAGCCACGAAAAGTGGGTTCAGTGACATGTTTCACAAAGAAGGCAGCAGAGGCCCAGAGAGGGGAAGCCACTTGCCCAAAGTCACATAGCACTGGAGCTGAGACCCGGAGTATCTGCCCACCCAGATCTGGGTGTGAGCTCCTTTATCCCCCTGTCTCACACCCAGGCCCCTACACCCCGAGCCCCCCACAGCACCTACCGGAGCACTACTGTTCCTCCCCCATGTAGTCAATGTCCAGAGGCTTCTTACGCTCGGAGAGGATGCGCACCTTCATCTCCCGCCCCGTCTGCCGCTTACCACGCTTCTGTTCTGCCTGAGGGTGGGGGAGGCGGAACAGTAAACTGGGGGCCACATCCCACAGAGCACTGCCGTGTCGGGACCCACACGTCGGATCCCACAGACCATTTCCATGTTGGGACCACAGGTCTGCACCCCAGGCCCATCTCCTTCAGACCTAGGAGTCCAGCCCCACTCCCTCCTCCCTCAGATTCAGGAGGAGTCCAGACCCCCAGTCCCTTCTCTTAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACCCAGGATTGCAGGCCCCGAGCCCCTCCTCCCTCAGACCCAGGAGTGCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCTCAGACTGAGTCCAAGCCCCAGACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGGCCCTCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGGACCCCAGCCCCTCCTCCCTCAGACCCAGGCGTCCAGACCCCAGCTCCTCCTCCCTCAGACCCAGGAGTTCAGGGCCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCTCAGCCCCTCCTCCGTTAGGAACCAGAGGTCTGGCCCCCAGCCCCTGCCCCCTCAGAACTCAGACCTCAGGCTCCTGCAGGCTGACTCACCTTGACCAGGTAGCCGCCAAAATGGGCCCCCATGTTGGACAGCACCTTCTTTTTCTTGGCATCATCCTCTGCCCGCTTCTTGGCCTCTTCCTCTTCCTTCCTCATCTTCTCCTCCTGTGGGAAGTAAGGGGTTAACCTCATGGACTCCCCTGTAGGACTGAGGGAGGAGGGCCCTGGGATGTGGAACTGGGGCACAGGGATCAGCAGACCCAGTGCCGCAGAGGCTGCTGGGACATCAGAACCAGCAGAAACGCAGGGGTACCCACTCCCGGCCCTGCCACGTCTCCCCGTGTGACCACCTACAAGTCCCTTCCCCTCTGTTTTTTTTTTTTTTTGAGACGGACTCTCGCTCTGTTGCTCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCAATTCTCCAGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCCGCCACCGCGCCCAACTAATTTTTGTATTTTTAGTGGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTACTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCGGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCCCCTTCTCTGGGTCTTAATATCCTCCCAGAAAAAATCGAAATGAAGGAGAAGAAGAAATGCCTGCTTTTTCTGCATGTCTCCACCCTGAAATAGCCGATAGTGAACTCTGCTGTACGACCTCACTCCAGATGCTCAGCCTGTCTGGGCCACAGTCGCCCTTAGTCTCAGGATATGAGAATGTCTGTTTTGAGGGGGTCAAGGGAAGTAACTGGTGATAAGACCAGGGACTGGGGAGATTAAAGAGGCTGATGGCCTTGAGCCTGAGGAAGGGGTTCTGGAATATTGAGCGAAGGCATTACGACATTCGAGAAACTCTTCATTGAATGTTCCAGAAACAGTGGTTTGTCCAGGCTGAGCCCCGTCTCCTTATGGTGGACATGAGGCTTTTTGTACACCCAGCACTCCGTACCTGAATTAGTTTCCTTTCTGTTTTTGAGATGGAGTCTCGCTCTGTCACTCAGGCTGGAGTGCAGTGGTGCAATCTCTGCTCTGTTCACTGCAACCCCCACCTCCTGGGTTCAAGTGATTCTCCTGCCTCGGCCTCCCAAGTAACTGGGATTACAGACATGTG	pathogenic	310,068
The chromosome 19, position 55154219 genetic variant in gene TNNI3 (troponin I3, cardiac type): benign or pathogenic? If pathogenic, indicate disease(s).	benign	TTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCC	TTCTGTCTTTCCCCATCCACTTCCTGTCTCCCTCATGCACTTCCTGTCTTTCCCCTCCACTTCCTGTCTCCTTCCTGCACTTCCTATCTTTCCCCTCCACTTCCTGTCTGCCTTATGCCCTTCCTGTCTCCTTCCTTCTCTTCTTATTATAGTAGTCCCTCCTTTTCTGCAATTTTACTTTGTGTGGTTTCAGTTACCTGAGGTAAACCATGGCCCAAAAATATTAAATGGAAAATTCCAGAAATAAACAATTCATAAGTTTGATGGATTCTCAGGTCAATAGTAGCCTAACGCCAGGTCATAATGCCTATGTCATCCACCTCACCTCATCTCAGCACATAGGCACTGTCATTTTACATCACAAGGAAAAGAAGGGTGATTACAGTGCTATAAGATATTTTGAGAAAGAGACCACATTCATGAGTTTTATTACAATCTGTTATAATTGTTCTATTTTATTATTATTATTATTTGAGACAGGGTCTGGCTGCCTCATCCAAGCTGGAGTGCAGTCGTGCAATCTCGGCTCACTGCAGCCTCAACTTCCTGGGCTCAAGCCATCCTCTCACCTCAGACTCCTGAGGAGCTGGGACCACAGGTGTGTGCCACCATGCCCAGCTAACTTTTGTTCTGTTTTGTTTTGTTTTGAGATGGAGTCTCCCAGTGTTGCCTGGGCTGGAGTGCAGTGGTGAGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCTTCACAAGTAGCTGGGATTACAGGCACCCACGACCACGCCCAGCAAATGTTTGTATTTTTACTACAGGTGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGCGCTGGGATTACAGGCACGAGCCACCACACCCGGTAACTTTGGTATTTTTTATAGAGACATGGTCTCGCCATGTTGCCCAGGCTGGTCTCGAACTCCAGAGCTCAAGCAATCTGCCTGCCTTAGCATCCCAAAGTGTTGAGATTACAGGCATGAGCCACCACGCCCAACCTTCTTTTGTTGTTATTTATTGTTAATCTCTTACTGTGTCTAATTTAGAAATGAAACTTTATCATAGGTATGTATGTGTGTATAGGAAAAAAAATTACATATAGGGTTCAGTACAATCCATGGTTTCAGGCATCCACTCCTATCTTTCCTGTCTTCTTCTTTAAGATAGGGTCTCACTGTATTGCCCAGGCTGGAGTGCAGTGGTGCAGTCATAGCTCACTGCACCCTCGATCTCATGGGCTCAAGCGATTTTCCTGCCTCAGCCTCCTGAGAAGCTGCATGCCACCACCGTGACTGGCTAATTTAAAAAAGAAATTTGTAGAAATTAAAACAACAACATGGTGGTGTGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCATGAGAATCACTTGATCCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGTCACTGCACTCCAGCAACCGAGATGGTGTCATTGCACTCCAGCCTGGGCAGCAGAGACTCCATCGCAAAAAAAAAAAAAAAAGGAAATTAAAAAAAAATTTTTTTTAAACCTCAAAGATTACAGGCATAAGCCACTGCACCTGGACCTTCATGTACCTCTTTGCTCTTACATGGACTTCCTGTAGCCCTAATGCACTTCCTGTCTTCCCCTTCTACTTCCTGTCTTCCTCTTGCATTTCTGAGGACCCCTTACTAGCTGCTTCTACCTCCAACTCCAAGCACCATCTGCCCTCAGGCCTAGGGTTGTTGGCACCCACAGCCCTTCCCCTCAGCATCCTCTTTCCTGGCCTTAGCCCACACTCACCTTCTCGGTGTCCTCCTTCTTCACCTGCTTGAGGTGGGCCCGCAGGTCCAGGGACTCCTTAGCCCGGGCCCCCAGCAGCGCCTGCATCATGGCATCTGCAGAGATCCTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCN	benign	310,155
Variant at chromosome position 55156184, chromosome 19, gene TNNI3 (troponin I3, cardiac type): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	benign	CTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCATCCTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC	CTCACTCTCCGCAGGGTGGGCCGCTTAAACTTGCCTCGAAGGTCAAAGATCTTCTGAGTCAGATCTGCAATCTGGGGGCACACGAGGGGGTGGGTACTTCTCCTTCCATTTCCCGCACACCCAACTCCTCCATCCTACACTCCTTTTTTATTCTCCTTATCTCGTCTTCCAGTACCGAGGCCTTACCAGTCTCTTCCCGGCTTAGGCTCCCAGTCTAGGCTTCTAATCCTGGAACTGAATCCCCCTCCTCATATGCTCCAGCCTCACCTCTCAAAACCACTGGCATAACCTGGTCCAGCTACATGCAAATCACAATTCCCTGGCCAGTGCCTGAGCTAATTTACCAACATGTGATGCCCTGAGCATGTTCACTAACTTATTTTCTGTTTCCCAACCCATGGCCTTGCATGTGCTGTTCCCTCTGCCTAGAACAGCTTTCCTTGACTATATTGTACTCATCCTTCTGCCCCAGCCCTGCCAGGCTCACAGTTGTCCTGGGTCTCCTGGGATGTGCAGCCAAAAGCAGCTGCAAGGGGTCAGGCAGAGACCAAGTCCCAGCCATCTCACCCTACCCCGAAGGTACCCGAGCTGCCCATGCGTCCCACCTCCGTGATGTTCTTGGTGACTTTTGCCTCTATGTCGTATCTCTCTTCATCCACCTTGTCCACACGGGCGTGGAGCTGTCGGCACAAGTCCTGGAGGAGGAACGTGGTGTGTGTTGTTGGGGGAACCAAAAACAGGGAGACCTGGACTCCTGGGTCTGAGGGAGAAGGGGCTCGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGTTGGGGGCCTGGACTCCTGGGTTTGAGGGAGGAGAAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGAGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTCAGGGAGGAGAGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTGAGGGAGGAGGGGCTGAGGGCCTCGATTCCAGGGTCTGAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTTCAGGGTCTCAGGGAGGAGGGGCTGGGGACTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGGCTGGGGCTTGGGCTTCTGTCTGGGATAGGAGGGCCACATGGTCCTGAAGGAGTAGGTTGGAGCCAAGACTCCACAGACCTGCACACAAAGGGTGTTAGGGGCCAGGAGTCCCACGAACCATATATAATTGGGTAAGGACAGCCATATTGGACGCCTGGGTCCCGAGCAGAAGAGGGGATAGAGGCTGTACTGCTGAATTCCGGGACTAGAAACCTCGCAAACTTGGGAGCCGGTACCTGCAGCTCCGCGAAGCCCAGCCCGGCCAACTCCAGCGGCTGGCAGCGGGTGCTCAGAGCGCGCCCCTTCTCTCCGCGCCGCTCCTCCGCCTCTCGCTCCAGCTCTTGCTTTGCAATCTGCAGCAGCAGAGTCTGCAGAGGGGTGGGAGGGAAGCGCAGCCCACCCGGGGCTTCAGGATAAAGACCAGGCGTGGGGAACCGCCTCTGCCCTTCTAAACCCTCCAGTTTGGTCTCCACTGTTCCAAGGCCCCGTCCCACCCCGAGCAGTACTCCCCGCTAAAGCCACGCCCCGAGCGGCCAAACCCCGCCCACTTCCGCCCACCTACCCCGAAAGCCCCACCCATTCTCAAGCTCCGCCCCCTGAGCACCTGCCTGCTCTTTCCCAGTCCCGCCCGTCCTCACCTTCAGCTGCAATTTTCTCGAGGCGGAGATCTTAGATTTTTTCTGCCAGGGTGAGATGGAGCAAGGAAGGATCATGGAGGGGGATTCGGAGACGACGGTGGAGGGGACCTCAAGACACCCCCAGCAAACCCAGCCGGTCCAGATTTGGGCCCACGTCCAACTTGAGCCCTGAGTCTACGGGAGGCCACGCCCCTCATTCCCATCCACCAATCTGGGTCTCTTCCTTTGGATAGGCACTTCCCATCTATCCCTAAGCAAGTCCGAGGGCAACGGAGTTCCGCCCGCAGGCTGCTGTCACCAATCCGAGCATGACCCTCTGCAAAACTCCGCCCCTGAAGCCCCTCCGCGTAGTCCCCGCCCCCTTCGCAGCCCTGGCTCCTCCCCCCACTCCCAGGGTCTTGGATCCCTCCGGCGCCTGTACTCTGCCCCCAGGAAGCCCCGTCCCACCTTGGCGTGCGGCTCCGTGGCATAAGCGCGGTAGTTGGAGGAGCGGCGTCTGATTGGGGCTGGTGCAGGGCGAGGTTCCCTAGCCTGGGTTAGGAGGAGTGGGGACCCCATCACCACCAAGACCCCACCCAGCCCTTACCGTACCGCACCCTCTGCTAGGGCTGCAGCCTCCCGCCCCAGACCCCTCACTGCAGCGCCCACCCTGGCCCTGGGGGTCCCAGCCACGCCTTAGCCCGCTGCTCTCACCGCATCGCTGCTCCTGGAAGGAGAGAAACCAAGGAGGGGGGTTAGTGGTGGGCTGTGTCCTGTCTCCTAAGGGACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCC	benign	310,172
Gene mutation in DNAAF3 at chromosome 19, position 55159416—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']	GACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCG	GACCCCTGGAGTCCCCTCTGAACAAGAGGTCGGGGGACCGCGCTTCCCCTTCCTTGGGTTCCAGGAGTCTGACTCGCAAACCCACTTCCTCTCTTCACCCAAGAGTCCCTACGCCTACCTCGCAGGCCAAGGGTCCAGCCTCTCAGCTGCGACCCCTCTTGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGC	pathogenic	310,227
A genetic variant at chromosome 19, position 55159575, affecting gene DNAAF3—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']	TGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGC	TGGGAACCCGGGAGGTCGCCCCCAACTCCCACTGCCTTGGGGCATCACTCACCCATCCGCCATGCTGAGACTCAGGCCGGGAATGGCAGGAGGCAGGGCGAGGACAGGGGCGTTTGGAGGGTCAGTGAGGGGGCCGCCCGGGTGACCTTCAGGGTCCCAGGGACCGTCAGTCTCCTCCGGGCTGCTTGAGACTCCCCGAGGACACTGAGATAAAGGGCGAGGACACAGACTAAATATACTGTCACCTCCTCCTCCCCCTGCCCACTATGCCAGATAACGGGGGCGCGTGAGGGGCGGGGTGGGCCCTGCTCCAGCTGGATCACCAGCCACCTCCGGGCACAGGAATCCGGACCCTCCTCCCTCTGATCCTGGAGTCCTAGACCCCTCCTCCCTCAGACCCAGAGAATGCCCGACCTCCCAACCTCCTCCTCCCTCAGTCCCAGGACCCTGGGAGACCCTGGCCACTCCCTCACACAAGGAGTCCAGGCCCCCAGCCCCCTTTTCCCTCAGACTCAAGTGTCTGGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCCAGCTCCTCTTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAAGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCCCTCAGACAAGGGAGTCCAGGCAGGCCCCCAGCACACTTCCTCTCTCAGACTCAAGAGTCTGCACCCTCAGCTCCTCCTCCCTCAGACCAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCGAGGAGTCCAGGACCCCAATCCCTCTCCCCTCAGACCCAGGAGTCCAGGCCACTCAATAAATGTTGTTGATTAATTTGAGGATGCAGCTGTGCTCGGGGCTAGCTCTCAGTCAATAGCACTGGGAAATCCATCCCTCGTCCACTTGGAAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCN	pathogenic	310,230
A genetic alteration at chromosome 19, position 55160605, in gene DNAAF3—benign or pathogenic? If pathogenic, which disease(s) is involved?	benign	AAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAG	AAACCCAGGAATCTGGTTTCTGGCTTCCTCTGTCCAGCACTCCTGGGCCTTTCTCTCCCAGCCCTGGAGACGGACATAGGACAGGAAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGNNNNNNNNNNNNNNNNNNNNN	benign	310,235
The genetic variant at chromosome 19, position 55160690, affecting gene DNAAF3: benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']	AAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGT	AAAGACGCTTGGACACACAGAAGGGTGGACACAACTTGCTTTACTTGAACCATCTGGGTGCTGACCAGGCCCTGGTGAGGAGACACCCCAGCCCCTAGTCAGCCACAGGGTGCCTGGGAACAAGGGGGCCAAAGTCAAGGGCCTGAGACTCAGTGTCAGATCCTAGGCTGGGCTTAGAGCCTCAGAAGTGGAATTTGGAATTCTGAGAGAACAATCTAGAATTCTAGGAATAGACCATAGAATCTCAGAAATGGAATTTGAAAGTCTACCAACACTCCCGGGGTGGGGGTGGCGGGTACTGAGTGGGAATGATTAGAATAAAATTGAGGACTCTAGCAGCGGACTTAGAATGGTATCAGCGGGTTCTCATCCTACAACCTGACTTTGGAAGTTGGAGATAAGGGGTGTCTAGGGGTTGGGTCAGACTCCAGTTTTGGAGTCTGACTCACAGTTGGGCGGAGCCAAGGCCCCCTGAGGCTGAGCCAGAACCTCTGAGAGTGAACCTGGAGACTCAGAGGGCAGCTGGCAGGGCTCACAGTGTGGGGTCCCACCCTGCAGAGGCTGGGTCAGGCCCTCAAGGGCTGGGTTGCTGGCTTCAAGAGGCTGGGCCAGGATGTCAAGGGGCGGAGTTCCGGGTTCCACAGCTGGGACAGTGTTGCCCAGAGCTGATTCCTGGGACTTGCAGAAACGTGCGAAGGTCTCTGAAGGCCTGGCCCCGGTCTGTGGAGCAAATCCAGCTGCCTGAGCTAGCTCCCTGACCCGGGTGTTGAATCCCTGCAGCTGCTCCTGCCGCACGTCCACCAGGTACCTGCAGATGGGAAGCGCCCTGTCAGGGACCCAGATTTTGATCCCCAGCCAGGATGTTCCCCACCCTCCACCCCACTGACTCACCGGGCTAATTCCACAATCAAGTTCCCTCCGGGTGCCACACAGGCCCCAAGCTCAGGGATGAGAAGATGGACCATACTGCAGAGAGGACGGAGGACAGGCTGAGATTCAGCTCCAAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTG	pathogenic	310,237
Considering the variant on chromosome 19, location 55161694, involving gene DNAAF3, would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']	AAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTCATGTT	AAATCCGGAGGGAGGATGGGGCTCTGGGATCCCAGACAATGAGGGAGGAGGGGTGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTC	pathogenic	310,261
A genetic variant on chromosome 19, position 55161747, affects the gene DNAAF3. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_2']	TGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTCATGTTAGTTGTTTAAGAACTTAATAGAAGAGAACTATGTGCCTTTAGTAAAATAGATC	TGGCAAAACTGGAGTCTGGGTCCTGGGGAAAGAAGGGAGCAGGAGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGGTCTAAGCAAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGATCCTGGGTCTTTGTGAGCACAGCTGCCTCCCCGCTTACCCACAGGCCACATAGAGGAGCTGGAATCGGCCGTTGTAGCAGCTCTTGTGGTGGAGAGTCTGAGCAGAATTGAGCGGCAGGAAGTGGACGGTGAAAGATTCCGGGGTCGGGGCTGCTGGGGGAAGGGGATAGAGGGGTCACCTCTGACAGGCGGAGCCATAAGGGCGGAAAACCAGAGAGATACACAGAGCTGGGCAGAGCTGGGCAGGCACACAGGACTTGGAGATAACACTTTTTGTCCTCTTGCAGCTTTTTAAAAAATCCTCTAAGGTAGGCTCCTGGAAAGTTCTGGGAAGGTCAGCCTGGCAGGCAGAGACTCACTGTACAGATCAGGCAACTGAGACTCTAGAGAGGGAAAGAGGGTGGGTGGCCAGGGCCACATGTGACATGCCCTGTCAGACAGACACGCAGGGAGGGCCAGGTTGGAGGATGGCTGGAAGGAGGCCCAGCCAGGATCCAGGGTGTGGGAGGCTGTCCAAGGGGGAGCTGGGACCCAGCACCCTGTGAGAATATTCTTGGATAGCTTAGCCCTCTGCAGATAAGATTAGAATTCTGCTAGTGGAATTCAGAATTCTAAGCATGCTCTCAGAATTTAGGAAAGGGAGAGAAAGAGAGAAAAAGAGACAGAATATCAAGAAGCCGTCACTTGCCCAGGCATTCCAAATCATGTCAGTCCACACTCCAGTGTGAAACACCTGGAGGCTGGAGTCCCTGGCTTACCTGTTGTTGTCCCTGGCTTACCTGGAGTCCCTGGCTCCGGGCTTCCCTCCGCGTGCTGCTGCTCCTCCAGGTCCCCCCCGGTGGCTCTCGCGCGCCCCCAGGCGGCCACGTCGCGGAGCAGCTCCGTCACGTTGTGTTGAGTGATCTCCCCGGCCGTCTAACAGTAGAAGGGGCGTGGCCAGACGTCGGGGCCAGGATGGCGGGGCGGGGCTTAGAACGCTGGGAGTCCTCGGTCCAGGACTAGAACTCCCGCAGCTGCTTGGAGGATGTGAAGTGGGGCGGGACCTATCCCGCGGGGATGGGGCCTGTTCTCTGAATGGAGTCGTTCCCACCAAGCGACGGGCGGGGTCTGGAGCTGGGGGCGGGGCCTGCTGTGGGGGCGGGGCCTTGCGCACCCACCGACCCCCAGCCCCACCTCTACCCCCAGTCCCAGCCTCGCCGCGCACCTTGACTGGCTGGCCGTTGCTCGTCCGCAGGAGGCTCTCGTCGTCCGCTTCGATGCCGAAGGCCACGAAGGGCCCCGTGGCGATGTCCCCCCAGTACCCGCGCGCTGCCACGCGCTCCCCACGCTGGAAAAGGAGGGAGAGAGGAGGCAGGTGAGGTCGATGTTGGGGCCCCTGACTCCTAGGACTCCGAGCAGCAGCAGTGGGCCAGGACAGGCAGTGGACACGCACGTAGCTCAGGAGGCGACCGGACGCCAGGGTCCGGTTGGGCACATGATAGGCGCTGGAGTCCCTGAGTTCAAAGGCGACGCCTGTGTCCCGCCAGCGTCGGAACTCCTGGGGGTGAATGACTTGAGCCTGGGGTGGGGGGCGGGAAGAAGGGAGCCCTCAGTGAACCGAGCGTGGAGAGACCCCTACACCAGCCTCCCTCAGACCCAGGAGTCCAGGTCCCCAGGCCCTCCTCCCTCAGACCCAGGAGTTCAGGCCCCCAAACCCTCCTCCCTCAGACTCAGGAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGGGTCCAGGCCCCCAGCCCCTCTCCTGGGCCCCTCACCCCGCGGTCATGCAGCTTCATGCGCAGGTCCCAGTCGCTGACACCGCGCCGGGCGTCGTAGCGGGAGCCCAGGTAGTGGCGCAGGCGCGAGTCCCAGAGGCGGCTCATGGGGAACGCATGGGGAACGCCTGGGGCCCTTTCTCGCCGCCAGCCCAGAAGCGGAATACGGCCTCCAGGGCATCCCGCTCGCGGAACTGCGGGGCCAGGCACGCGGTGGGACAGAGGAAGGCAGAGAGGGATGCAGGGAGAGCGGATTCTAATTGACCCTCTCTTCCATCCCAGAACAGGGGAACGATTCCCCCGTTTCTCGGATGGAAAAACTGAGGCTCCGAAAGCAGAAGCCACCTCCTGCCCCCAGGCCAAATCCCACAGTGGGAGTCGGGGAACTGGGATTCGAACCCCCTAGCCCGCCGCCTGCTCCATCAACGCACGTCCTTTGGACTGTGCGCTTCCATTATTCCCGCGGCCACCCGATCCCAGATGGAGGCCGGGCGGCGGCACCTTGAGGGCGCGGAGGCTGAGCCAGGGCAGCTGTTCCTCCAGGCGGTCGGGCTCGGGGACCAGGTGCGCCAGCAGGTCGGCCTGGGCACGCACGAAGGCGGCCACTGGCGGGCGCAGCAGCGCGTTCCCCCACACTTCCAGGAAGGTCTCGCTTCGCTCTACGGAGAGAGGGAGATAATTGCGGGAATGTGTGGAGGAGGGAGCCCAGAAATTACACCCTTAATATGTTATTATGTCATAGTCATCTAATGAAAACAATGAACCCCCGCAAACTCCCCACGCATCCCAAAAACTACATGAAGAACAGGGCCGGACATGGTGGCGGGCGCCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGAGGCGGAGGTTGCAATGGGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCGCCTCTAAAATAAATAAATAAATAACCACCTAGAAGAGGGAATTAGAGTTGCAGATTCCACACTCACCGCAGACAGAGAATATTTGGGGGAAAAGATAACAACACAACAGTAAAAAATAATACAAATTGTAAAATATGGTGTAAGCATTTACATTGTATTACATATTATAGGTAATCTAGAGATGATTTGCGGTGTATGGGACCATGTGTACAGGCTATTTGTAAGTACATCTTTTTTGTTTTGAGACAGTGTCTCACTCTGTTGCCCAGGCTGAATGCAGTTGTGCCATCATAGTTCACTGTTACCTCGACCACCTGAGCTTAAGGGACCCTCCTCCTCCAGCTTCCCAGCTAGCTGGGGCTAGGCATTAGCTACCACACCCAGCTAATGTTTTATTTCTTTTTCTTTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCTAGACTGTAGTGCAGTGGCGCGATCCCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTTCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATCGCGCCCGGCGGCTAATTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAATATTTTATTTCTTGTAGAGACGGGGTCTCACTATGTTGACCAGGCCAGTCTCAAACTCGTGGTCTCAAGCAGTCCTCCCACCTCAGGCTCCCAAAGTGTTAGGATTACAGGCGTGAGCCACCGCCCCTGGCAATACTATACAATTTTATAAGGGACTTGAGCATCCTTGGATCTTGGTATCTGCAGGGGTCCTGGAACCAGTCCCCAGTGTTACTGAGGGATGACTGTATATACCTTTGCATATAATATATATACACATAGACATACAAATAGTTTCATGTTAGTTGTTTAAGAACTTAATAGAAGAGAACTATGTGCCTTTAG	pathogenic	310,262
Does the variant impacting AURKC (aurora kinase C) on chromosome 19, position 57232069, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Infertility_associated_with_multi-tailed_spermatozoa_and_excessive_DNA']	CTTTTTTGTTTTTGGGTTTTTTTGTTTTTGTTTTTGTTTTTTTTGAGACAGAGTCTCGTTCTCCTTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCTTGCCTCAGCCTTTTGAGTAGGTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTAGTAGAAACGGGGTTTCGCCCTGTTGGCCAGGCTGGTCTCGAACTGCCTACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCAGGCCTTCAATTATATTTCTGCAAGATATGTTCCCTGTCTAAAAGAATTCAATTTTTAATGTTTTTGAAACTTATGTGTTTGCTAAACAAATACGTGGGGGCTGATTTTACGATCTGAGGCCAAATCCACAAACTGATTACAGGGTCCAACAAATATTTGGCGAGTGGGAGGAGAGGGGTAAGTGAGCTGGACTGGTGGCGTCCTGGCTGTGAGCAGGCACAGCCGCAGGCTTCAGGGAGCCCCATCGCGGTGACCCTGGAGAGTGGCCTGAATCGGACGTGACCTTGAAGCAAGGTGGTTTTGGGGTCGCCGGCTGCACAAGGCGCGAAGTGGTTTAGGGTCACGGGCTGCACGAGGCTCCAGCACGTCAGGAGTGGGCGTCTGTTCATTCCCACGTGCATCGCGGCTCTCTCCTAGTTGACGCATGCACACCCCGTGGGTGTATGCGTTGTTCATTCCCACAACGGCCATCACCACCTCTCCGCACCCTCTGTCTCCTTCCTTCTCGGGCCTCACCCCTGGCCCTCGCTTTCAGTGCCCAGCCCGGACCGCAGCACTCCAGTTCCGCCCCAACCCGGGAACCCTGGACTGAGGCTCCCGTTTCTGTCCTTTCTATTGGGCGCACTTCCGATGGCGTCAGGAATTTCAGCCAATAGGAGCCAGCCAGGAAGTACCTCTCTGAGCGGTTGGTGCCGGGTATAAAAGAAGGCCGCGCAGCCACGGCTGCTCACGACGCCGCGGATCCCGAAGCCTGTGTAGCAGTGAGACATCAGTGAGGCTGCAGGACGAGCAGGATTGGAAGCGCCCCGGCCAGAAAGTGACCCCCCACCCCTTTCAGGACCCTGTGAACGGGAACAGCCATCCAGAGGGTTCAGGAAGGCGTCCGCGCCCTCACCTCTTCTCCCCATGAGCTCCCCCAGAGCTGTGGTGCAGCTGGGCAAAGCTCAACCTGCAGGCGAAGAGTGTGAGAGCCAGCGCCAGAGAAAGGACGCAGGGAAGGCTGGGGACTGGGCCAGGGGTCGGGTGCACAGAAGACACATGTGTTGACATCTCCCCTCCCTCTCCTCCTCCCCAACGCTCTTCTTTTCTCCCCACTCCCTCCCTTCCCTCCAATTCTTTCTTTCACCTCTCCCTCCCCTACTCTCTCCTCCCCTTCCTTTCTCTCTGCCTCTTCTTCACCTCCTCCTCCCCTCCCTACCTTACCTTACTCTTTCTTCTTCCCCTTACCTCTCCCTCCCCCTCTCCCTGCCTTCCCCTTCCCTCTCTTTCTCTCCTCCCCTTCTTCCCCTCACCTCTCGCTCCCTATTCCCTTCTCTACTGTTCTCCTCTCCTCTCTTTCTCTCCCCTTCTCCTTCCCTCCCCTCTCCCTTCCTATCTCCCTCCTCCTCCTCTCTTTCAGTGGCTACAGCAAACCAAACAGCCCAGCAGCCCAGCAGCCCAGCCATGTGAGTCCCTTGGGATTGGTATCTGGAAAAGGAAGGAAGGTGGGACGTGGGGATGAAGAACAGACTGGGTGTGTGGGGTGCTGGCTCCTGGGAACGAGAACTACTGATAGGGCTGGGTCTGTGTGAGAAGGGAAAGCGGCAGAGGAAGGATACAATGAAAGAGGAAGGGGAGCATTGGCATCCCTGACTTTCCCTCCGCCTACCCTACCTCCCAAGCTGAGGCTTTTTTCTTCCTCTCCTGTCAGGCGGCGCCTCACAGTCGATGACTTTGAAATCGGGCGTCCCCTGGGCAAGGGGAAATTTGGGAATGTGTACCTGGCTCGGCTCAAGGAAAGCCATTTCATTGTGGCCCTGAAGGTTCTCTTCAAGTCGCAGATAGAGAAGGAAGGACTGGAGCACCAGCTGCGCCGGGAAATTGAGATCCAGGCTCATCTACAGTAAGGACAGTCTCTGCTTCCTCTTTCATCTTTGACGTCTGAGCCCAGCATTTTCCCCAAATACTAACCCCAAGTAAACCCTGCACTTGTACCTTGAAGACTTCTCTGCAGTTCATTCCATTTACACTACCTCCTACCCTGGGTCAGACACTCGAATCCTGGTTCCTGTTCTCCGTTCTCCCCTCACTTGCTCCCAGATAGGGCTGTTGTTATTCTGGTCCCAGCATAATTTGCCACTTGTGTGACCAGGCAGTGACGGTGGCATCATATGATAGGCCTCAGGGAGAAATCTGACTCTTCCAACATTAATCCTTCAGACACCCCAATATCCTGCGCCTGTATAACTATTTCCATGATGCACGCCGGGTGTACCTGATTCTGGAATATGCTCCAAGGGGTGAGCTCTACAAGGAGCTGCAGAAAAGCGAGAAATTAGATGAACAGCGCACAGCCACGGTGAGGTGCGGGTCTGGAGGCTCTGGGGTCTCTGAGTTTACTGTGGGCTGGTGGGAGCTCTGTTTGTGGCTGTCAGGAGGGTCCGCATTGCCTTCTGAGAAGTTTACTTCTGAATGTTATTGTGTAAATTTAATATAATGGCACGTATGTTCTACAGCTTTATCCTTGGATACCCTAATTAACCTCATTGTATCTCCAGAATATTAATAAGTACTGCGTATAGGTTTGGATTCTTTGGTTATAAGCAACAGAATCTAACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTTACCATCCATCCTATAAGACCACATAAAAAGGAGAGGAAAACCACACCCCACACACCAGTAACTGGTGCAATTTAAAAGGAGGAAATGGAGTTACTGGACCAAAAAGATTCCACTGTAATCATACAATTCATGGTAAGTGTTCCACCTCAGACGGAAATTGTGGCAGGCTTCACTTCCAGGGTGACTTTTCTTTGCACCCACAGATAATAGAGGAGTTGGCAGATGCCCTGACCTACTGCCATGACAAGAAAGTGATTCACAGAGATATTAAGCCAGAGAACCTGCTGCTGGGGTTCAGGGGTGAGGTGAAGATTGCAGATTTTGGCTGGTCTGTGCACACCCCCTCCCTGAGGTAGGTCAGGTGGTGGTGGTAGGGTGAGTTCTGAGTACCAGTTAGGAATGACCCAGTTTAATGTATTTCATGTGTCCATGTGTAAAACCTAGATACGAACTTGGGGTTTCTATTGGAATACTGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGAGTCTAACTCTTTCACCCAGGCTGGAGTGCAGGGGCACAATCTCGGCCTCCCAGGTTAAAGCGGTTCTACTGCCTCAGTCTCCCAAGTAGCTGGGATAACAGGCATGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCTGGCTGAACTACTGCCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTAGATTGCAATA	CTTTTTTGTTTTTGGGTTTTTTTGTTTTTGTTTTTGTTTTTTTTGAGACAGAGTCTCGTTCTCCTTCTGTCGCCCAGGCTGGAGTGCAGTGGCATGATCTTGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCGATTCTCTTGCCTCAGCCTTTTGAGTAGGTGGGATTACAGGCATGCGCCACCACACCCGGCTAATTTTTGTAGTAGAAACGGGGTTTCGCCCTGTTGGCCAGGCTGGTCTCGAACTGCCTACCTCAGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCATCACGCCAGGCCTTCAATTATATTTCTGCAAGATATGTTCCCTGTCTAAAAGAATTCAATTTTTAATGTTTTTGAAACTTATGTGTTTGCTAAACAAATACGTGGGGGCTGATTTTACGATCTGAGGCCAAATCCACAAACTGATTACAGGGTCCAACAAATATTTGGCGAGTGGGAGGAGAGGGGTAAGTGAGCTGGACTGGTGGCGTCCTGGCTGTGAGCAGGCACAGCCGCAGGCTTCAGGGAGCCCCATCGCGGTGACCCTGGAGAGTGGCCTGAATCGGACGTGACCTTGAAGCAAGGTGGTTTTGGGGTCGCCGGCTGCACAAGGCGCGAAGTGGTTTAGGGTCACGGGCTGCACGAGGCTCCAGCACGTCAGGAGTGGGCGTCTGTTCATTCCCACGTGCATCGCGGCTCTCTCCTAGTTGACGCATGCACACCCCGTGGGTGTATGCGTTGTTCATTCCCACAACGGCCATCACCACCTCTCCGCACCCTCTGTCTCCTTCCTTCTCGGGCCTCACCCCTGGCCCTCGCTTTCAGTGCCCAGCCCGGACCGCAGCACTCCAGTTCCGCCCCAACCCGGGAACCCTGGACTGAGGCTCCCGTTTCTGTCCTTTCTATTGGGCGCACTTCCGATGGCGTCAGGAATTTCAGCCAATAGGAGCCAGCCAGGAAGTACCTCTCTGAGCGGTTGGTGCCGGGTATAAAAGAAGGCCGCGCAGCCACGGCTGCTCACGACGCCGCGGATCCCGAAGCCTGTGTAGCAGTGAGACATCAGTGAGGCTGCAGGACGAGCAGGATTGGAAGCGCCCCGGCCAGAAAGTGACCCCCCACCCCTTTCAGGACCCTGTGAACGGGAACAGCCATCCAGAGGGTTCAGGAAGGCGTCCGCGCCCTCACCTCTTCTCCCCATGAGCTCCCCCAGAGCTGTGGTGCAGCTGGGCAAAGCTCAACCTGCAGGCGAAGAGTGTGAGAGCCAGCGCCAGAGAAAGGACGCAGGGAAGGCTGGGGACTGGGCCAGGGGTCGGGTGCACAGAAGACACATGTGTTGACATCTCCCCTCCCTCTCCTCCTCCCCAACGCTCTTCTTTTCTCCCCACTCCCTCCCTTCCCTCCAATTCTTTCTTTCACCTCTCCCTCCCCTACTCTCTCCTCCCCTTCCTTTCTCTCTGCCTCTTCTTCACCTCCTCCTCCCCTCCCTACCTTACCTTACTCTTTCTTCTTCCCCTTACCTCTCCCTCCCCCTCTCCCTGCCTTCCCCTTCCCTCTCTTTCTCTCCTCCCCTTCTTCCCCTCACCTCTCGCTCCCTATTCCCTTCTCTACTGTTCTCCTCTCCTCTCTTTCTCTCCCCTTCTCCTTCCCTCCCCTCTCCCTTCCTATCTCCCTCCTCCTCCTCTCTTTCAGTGGCTACAGCAAACCAAACAGCCCAGCAGCCCAGCAGCCCAGCCATGTGAGTCCCTTGGGATTGGTATCTGGAAAAGGAAGGAAGGTGGGACGTGGGGATGAAGAACAGACTGGGTGTGTGGGGTGCTGGCTCCTGGGAACGAGAACTACTGATAGGGCTGGGTCTGTGTGAGAAGGGAAAGCGGCAGAGGAAGGATACAATGAAAGAGGAAGGGGAGCATTGGCATCCCTGACTTTCCCTCCGCCTACCCTACCTCCCAAGCTGAGGCTTTTTTCTTCCTCTCCTGTCAGGCGGCGCCTCACAGTCGATGACTTTGAAATCGGGCGTCCCTGGGCAAGGGGAAATTTGGGAATGTGTACCTGGCTCGGCTCAAGGAAAGCCATTTCATTGTGGCCCTGAAGGTTCTCTTCAAGTCGCAGATAGAGAAGGAAGGACTGGAGCACCAGCTGCGCCGGGAAATTGAGATCCAGGCTCATCTACAGTAAGGACAGTCTCTGCTTCCTCTTTCATCTTTGACGTCTGAGCCCAGCATTTTCCCCAAATACTAACCCCAAGTAAACCCTGCACTTGTACCTTGAAGACTTCTCTGCAGTTCATTCCATTTACACTACCTCCTACCCTGGGTCAGACACTCGAATCCTGGTTCCTGTTCTCCGTTCTCCCCTCACTTGCTCCCAGATAGGGCTGTTGTTATTCTGGTCCCAGCATAATTTGCCACTTGTGTGACCAGGCAGTGACGGTGGCATCATATGATAGGCCTCAGGGAGAAATCTGACTCTTCCAACATTAATCCTTCAGACACCCCAATATCCTGCGCCTGTATAACTATTTCCATGATGCACGCCGGGTGTACCTGATTCTGGAATATGCTCCAAGGGGTGAGCTCTACAAGGAGCTGCAGAAAAGCGAGAAATTAGATGAACAGCGCACAGCCACGGTGAGGTGCGGGTCTGGAGGCTCTGGGGTCTCTGAGTTTACTGTGGGCTGGTGGGAGCTCTGTTTGTGGCTGTCAGGAGGGTCCGCATTGCCTTCTGAGAAGTTTACTTCTGAATGTTATTGTGTAAATTTAATATAATGGCACGTATGTTCTACAGCTTTATCCTTGGATACCCTAATTAACCTCATTGTATCTCCAGAATATTAATAAGTACTGCGTATAGGTTTGGATTCTTTGGTTATAAGCAACAGAATCTAACTCCACTGCCTTATGTAAAGAAACATATTGAAAGGCTCTGAAGGAGTTCACTGAATAAATAGCTAGAACTGGCTTAGAGATAGGTACAAAGAGATTTCTAGAGGGTTCCGGAAAGGGAACCATGGCAATGATTTTCCCAGGAGCAATGGTCCAATCAGCTTGCTGTGTCAGGATGAGTGGTCTTCCATCTTTCCTCCTGTTTCTGTTTCACTTCCTCGGGCCTCAAGTCCTGTGAGAGATCATCTGAGTGGCTCAATGTAGGTTCTATGTCTGGCTACTTGCTGTGCTAGGACAACAGGGAGGATCTGTGTCCATGTTACCATCCATCCTATAAGACCACATAAAAAGGAGAGGAAAACCACACCCCACACACCAGTAACTGGTGCAATTTAAAAGGAGGAAATGGAGTTACTGGACCAAAAAGATTCCACTGTAATCATACAATTCATGGTAAGTGTTCCACCTCAGACGGAAATTGTGGCAGGCTTCACTTCCAGGGTGACTTTTCTTTGCACCCACAGATAATAGAGGAGTTGGCAGATGCCCTGACCTACTGCCATGACAAGAAAGTGATTCACAGAGATATTAAGCCAGAGAACCTGCTGCTGGGGTTCAGGGGTGAGGTGAAGATTGCAGATTTTGGCTGGTCTGTGCACACCCCCTCCCTGAGGTAGGTCAGGTGGTGGTGGTAGGGTGAGTTCTGAGTACCAGTTAGGAATGACCCAGTTTAATGTATTTCATGTGTCCATGTGTAAAACCTAGATACGAACTTGGGGTTTCTATTGGAATACTGCCTTTTTCTTTTCTTTTCTTTTCTTTTTTTTTTTGAGACAGAGTCTAACTCTTTCACCCAGGCTGGAGTGCAGGGGCACAATCTCGGCCTCCCAGGTTAAAGCGGTTCTACTGCCTCAGTCTCCCAAGTAGCTGGGATAACAGGCATGTGCCACCACACTCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTTGCTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCTTCCCAAAGTGCTGGGATTACAGGCGTCAGCCACCATGCCTGGCTGAACTACTGCCTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTTGCCCAGGCTAGATTGCAATAN	pathogenic	310,388
Is the variant located on chromosome 20 at position 417395, gene RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1), benign or pathogenic? If pathogenic, specify the disease(s) linked.	benign	GACAGAAGTGAGACCCTGTCTCAAAAAAAACAAAAACAAACAAAACCCCTCAATACTATTATCACACCTTAGAAAAGGAATAAGAATTCCTTAAAATCCGCTAATGCCCTGTTTATATTCACATTTTCCTATTTCATTAGTGCTTTTTACAATTGGTTTCTTCAAATCAGGAGCCAAACAAGATCTACATGTAGCATTTCTTACTATGTCTTAAGTCCCTTTTACTCTCCTCTATTTTTATGCCACTAGTTTTTTTTTTAAGAAACCTGGTCTTTTGACCTCTAGAATTTTCCCCATATTCTGGATCTATCCATTACCTCTTCATGGTATGTATTAGACCACTCTAGCATTGCTACAAAGAAATATCTGAGACTGGGTAATTTGTAAAGAAAAGAGGTTTAATTGACTCAGTTCTGCAGGTGGTGTAGGAAGCATGGTCCTGACATTTGCTTGGCTTCTGGGGAGGCCTCAGTGAACTTTTACTGAAGCGGGAGCAGGCACTTCACATGGTGAGAGAGGGAGCAAGAGAGAGAGTTGGTGGGGAGGTGCCACACTTTACAACAGCCAGATCTCACGAGGACTCACTATGGCGAGAAGTCACTACAGTGAGCGCAGCACCAGGCTGTGAGGGAGCTGCCCCTATGACCCAAACACCTCCCACCAGGCCTCACCTTCAACACTGAGGATTACAGTTCAAGGTAAGATTTGGGCAGGGACAAATACCCAGACTATCATGGTGTCATTTACTATCTCCCGTTTTTCCTGTAACTGGTAGTTAGAGATAAAGTTTCAATTAGTCAGCAGTCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTTGGCTCACTGCACGGTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAATCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCTGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTCAGCAGTCACTTTTAATGTGCAGGAACTCTTCCTCATTTTTTGGTTGCTTCATGCCTTTCCTTGCTTTCTGAATGCAGTGTTTTCCCAAATCTCTCTGAAGGTACTAGTTAGACTTCACTGTTGCTTATTGTTCCATACCCTAAATGATCTCTGTTTCCTTTGGGGTCGGTTCTGTTTTTTCATCTTTTCATGCTTTTGATTTTCCAAACATGTTGGAGGATCCTCAAGAAAGTTAAAACCACTTTCTCTGGAATAATACCATGTAGATTTAAATCCTGCCTCTGGCTGAACACAGTGGCTTACTCCTGTAATCCCACTTCGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTCAAGACCAGCTTTGGCAACATAGTGAGACCCTGTCTCTACAAAAACTTAAAAAATTAGCCAGGCATGGTGGCATGAGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGATGGGAAGAGCCCAGGAGGTTGATACTGCAGTGAGCCAAGGTAGCACTACTGCACTCCAGCCTGGGCCACAGAAAGAGAGCCTGTGTCTTAAAATTAAATCAAGACATACAAATGAATCCTGCCTCTAACAGTTATTAGTTGCTTAGTTTGGCAGAGTCACTGGAACCTATCTGTGCCTCACATTTTTATCTGTAAAACAGGGATACAGCAGTACCTGTCTGATGGGTTGGTTGAGAGGATTAAATGAGTTAATACACATGAAGTGCATTAAATAGTCTTAGCACGTAGTTAACAACAACTTCTGGTGGTTTCACTAAGGAGCAGGGGAGAGAAGACAGAAGAGGTTGGAGAGGTCAGGGAGGTGCCAGATCATGGAGGCCCTCGTGTGCTGCCACGAGTTGATTCTAAGAGTAGCGTGGAGCCATTGGAGGGGCCTAACTGGTGGGTTCTAATAAAGGAAGAAGCATGGGTGGGGCCTACCCCAGACTGGGGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGCCATGTGCCTGTGTGCAAATATGTACATGTCTGTAGCCGGTGGCTGAGGCTGGACCCCTGGCCAGAGCCCATGCTGAGCCCCTGCTGTTCTCTGCAGGCTGTGGGTGAGCGTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTGAGTGAGGAGGCGGAGGGCGACACTGGGGTGAAGGCTCTCCCTTTCACTCCTGCTTCCTCTCTCTCCTCTGGCCCTCCCTTCCCACTCTCCCTCTCTTTGCCCCCACCAGGTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGC	GACAGAAGTGAGACCCTGTCTCAAAAAAAACAAAAACAAACAAAACCCCTCAATACTATTATCACACCTTAGAAAAGGAATAAGAATTCCTTAAAATCCGCTAATGCCCTGTTTATATTCACATTTTCCTATTTCATTAGTGCTTTTTACAATTGGTTTCTTCAAATCAGGAGCCAAACAAGATCTACATGTAGCATTTCTTACTATGTCTTAAGTCCCTTTTACTCTCCTCTATTTTTATGCCACTAGTTTTTTTTTTAAGAAACCTGGTCTTTTGACCTCTAGAATTTTCCCCATATTCTGGATCTATCCATTACCTCTTCATGGTATGTATTAGACCACTCTAGCATTGCTACAAAGAAATATCTGAGACTGGGTAATTTGTAAAGAAAAGAGGTTTAATTGACTCAGTTCTGCAGGTGGTGTAGGAAGCATGGTCCTGACATTTGCTTGGCTTCTGGGGAGGCCTCAGTGAACTTTTACTGAAGCGGGAGCAGGCACTTCACATGGTGAGAGAGGGAGCAAGAGAGAGAGTTGGTGGGGAGGTGCCACACTTTACAACAGCCAGATCTCACGAGGACTCACTATGGCGAGAAGTCACTACAGTGAGCGCAGCACCAGGCTGTGAGGGAGCTGCCCCTATGACCCAAACACCTCCCACCAGGCCTCACCTTCAACACTGAGGATTACAGTTCAAGGTAAGATTTGGGCAGGGACAAATACCCAGACTATCATGGTGTCATTTACTATCTCCCGTTTTTCCTGTAACTGGTAGTTAGAGATAAAGTTTCAATTAGTCAGCAGTCACTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTGTTGCCCAGGCTGGAGTGCGGTGGCGCAATCTTGGCTCACTGCACGGTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAATCTCCTGAGTAGCTGGGACTACAGGCGCCCGCCACCGTGCCTGGCTAATTTTTTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTCAGCAGTCACTTTTAATGTGCAGGAACTCTTCCTCATTTTTTGGTTGCTTCATGCCTTTCCTTGCTTTCTGAATGCAGTGTTTTCCCAAATCTCTCTGAAGGTACTAGTTAGACTTCACTGTTGCTTATTGTTCCATACCCTAAATGATCTCTGTTTCCTTTGGGGTCGGTTCTGTTTTTTCATCTTTTCATGCTTTTGATTTTCCAAACATGTTGGAGGATCCTCAAGAAAGTTAAAACCACTTTCTCTGGAATAATACCATGTAGATTTAAATCCTGCCTCTGGCTGAACACAGTGGCTTACTCCTGTAATCCCACTTCGGGAGGCCAAGGCAGGAGGATCACTTGAGGCCAAGAGTTCAAGACCAGCTTTGGCAACATAGTGAGACCCTGTCTCTACAAAAACTTAAAAAATTAGCCAGGCATGGTGGCATGAGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGATGGGAAGAGCCCAGGAGGTTGATACTGCAGTGAGCCAAGGTAGCACTACTGCACTCCAGCCTGGGCCACAGAAAGAGAGCCTGTGTCTTAAAATTAAATCAAGACATACAAATGAATCCTGCCTCTAACAGTTATTAGTTGCTTAGTTTGGCAGAGTCACTGGAACCTATCTGTGCCTCACATTTTTATCTGTAAAACAGGGATACAGCAGTACCTGTCTGATGGGTTGGTTGAGAGGATTAAATGAGTTAATACACATGAAGTGCATTAAATAGTCTTAGCACGTAGTTAACAACAACTTCTGGTGGTTTCACTAAGGAGCAGGGGAGAGAAGACAGAAGAGGTTGGAGAGGTCAGGGAGGTGCCAGATCATGGAGGCCCTCGTGTGCTGCCACGAGTTGATTCTAAGAGTAGCGTGGAGCCATTGGAGGGGCCTAACTGGTGGGTTCTAATAAAGGAAGAAGCATGGGTGGGGCCTACCCCAGACTGGGGTTTGTGTGTGTGTGTGTGTGTGTGTGTGCATGGCCATGTGCCTGTGTGCAAATATGTACATGTCTGTAGCCGGTGGCTGAGGCTGGACCCCTGGCCAGAGCCCATGCTGAGCCCCTGCTGTTCTCTGCAGGCTGTGGGTGAGCGTGGAGGATGCTCAGATGCACACCGTCACCATCTGGCTCACAGTGCGCCCTGATATGACAGTGGCGTCTCTCAAGGACATGGTGAGTGAGGAGGCGGAGGGCGACACTGGGGTGAAGGCTCTCCCTTTCACTCCTGCTTCCTCTCTCTCCTCTGGCCCTCCCTTCCCACTCTCCCTCTCTTTGCCCCCACCAGGTTTTTCTGGACTATGGCTTCCCACCAGTCTTGCAGCAGTGGGTGATTGGGCAGCGGCTGGCACGAGACCAGGAGACCCTGCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCNN	benign	310,468
Considering the variant on chromosome 20, location 419860, involving gene RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	benign	GCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCGGTAAGCTGTCCTTGGCCTCAGTATCCTCTTCTGTGCCCCTCCCTTGCCTCACCCTGCCCAGTCGGGCTCACAGCACCCTCTGCTCCCAGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAGGTGGGCGGGAAAGTCCCTGGACAGACACCTGCAGACCGCACGGGGGAGGTGTAGGCCAGGAAGGGAGACACCTGCGCACTGCCGCGCCTCTCCGTTACTGCCTTGCCCCTCCCAACCATGCTGCTGGCAGTGACCCTGCACCTGGCTGTGACCCTGCACCTGGCTGTGACCTGCCCTCTCTCAAAGGTCACCCTGTGGCTGAGACCCGCTCCCTGGCTGTGGCGCACATCCAGGTTCACATGCCCCACTCCCACGTGGGCTGTGGCTCCATCCCCAGCTTTGACACACCACACGAGTATGGCTGGCCATGACCCCAGCACCCTAGCCATGACCCCAGCACCCTAGCCATGACCACACCTCAGCTCGGACCTCACCCCCACCCGTCTGTGACCTAAGCCTGCTCCACCTCGCCGTGACCTCACCCTGGACTCTCCTACTCCTGACCTCTTCCCTCTCGGGCTGGGCCCACCCCTGACTTCCTGAGAGCCTGGCCTGGACCCTCGCTGCGCCCTAGGGGGATGACCCCCGACCCCGGTCCTACGCCTTAGCCCTACCCCGCCCCCATCGTGACACACGCACTAATGACACAGACATTGATCCCCGAGTGCTCCCCATTCTGATCTCACCCCTGGCCCCACCTGCATTCCCCTTGGACCCGGTGCTGCCCCTGGCCACCCCACTCCTGTTCCCGTCTCAGCTCCTCGGCTTCGTCACTTCCCCACCCCTGACGTTGAGTGGCTCCACCAGCCCTGGCCCGGGCCCTGCCCTGCTACCTGACTCACCACTCAGACCCCGGCCCCCTTCCTTACCTTGCTGCCATTGCTGTCTCACCTGGCGCCTTCCGTGGCTACCTGGCCGGCCTCCCCTCCCTTGGCTTCCCCACCTCCACCTGGCCTCACTCCCAGCCCCGCCCCTCCCAACCTGCCTGCTCCTGCCCATCCCCCACCCCCCACCCCCCATCCCCCAGCCCCACCCCCATCCCCCACCCCCGTCCCCCATCCCCCATCCCTACTGGCTCCCAGCTTTGCCTGTGGCTGGTCTGACCCAGCCCTGACCACGCCCCCTGGCCCTTCCCCCTTCGGGGTCTGACCCGCCCCCGAGGCCCTGACCCGCCCCGTGGCCCCGCCCCGTGTGCCCAGCGGAAGCAGCAGCAGCAGGAGGGGAACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGGTGCTGAACACGGAGCCCGCCGAGTGCCCCGTGTGCTACTCGGTGCTGGCGCCCGGCGAGGCCGTGGTGCTGCGTGAGTGTCTGCACACCTTCTGCAGGTGCGGCCCCCAGTCCCACCCCCGGCAATGCAGCTTAATCAAAGCCGCCAATTACGCAGGGCTGGACGTGGGTGGGGCCCTGTGCTCTGATACCTCATTGGACGCCCGCGAAAACCTACGAGGTAGGCTCCGTCTCCCCATGTTGCGGACGAGGAACCTGAGGGAAAGAGAGGCCCAGCGCCTTACCCCAGGCCCACGGCTCATGAGAGAAGCAGCCTAGACGTGAGCGCAGGCGTGGGGGGAGACTCCCTTCCCCTCTACCTTTCGCCGCCCGGGCTCCTGCAGCCACGCTGCTCTCAGCCTCGCTGTGGGCATCTGCCAGTTTCTGAGTCTCCTGTCATGGCCCCCCCACCCCTGAATGTGGGGAACACAGACCCGCTCACCACAGCGGACCCTTGTGGAGCCGCCCCTGGGTGACAGGCTCCGTGCCTGCCTCCTGCAGCTTACATTCCAGCAGAGAGGCTGATGAGAATCGGATAATCGCTGGTTGATGTCTTTGTGAATTGTGTCAAATGCTACATACAGTACATTAAGAGACAACAGGAGTCCTTCCCAGAGAGGGTGGTCTGGAAGCTTCCAAGGAGGTAGCCCCAGAGCAGGGACCGGAAGGCCTGCTGTAGGTGTGGGGTGTGGGCCTGGCCTGTTGGAGGAGACTGAGGAGGTCTCTTGGTGGCTGGAGCAGAGGGATGAAGGGGGTAATCAGAGCAGGATAGAGAGGTGTTGGGTACGTGAGCAGCAGTGAGGAGTTGGGATTTGTTCTGGGTAGGATGGGAGTCACTGGGGAGACATGGCTGCTGTTCTGAGATAGACTCTAGGGGCCAGATGGATGCAGGGAGCCCAGCGAGGAGGCTCCTGGAGTCACCCAGGTGGGGGATG	GCACTCCCATGGGGTGCGGCAGAATGGGGACAGTGCCTACCTCTATCTGCTGTCAGCCCGCAACACCTCCCTCAACCCTCAGGAGCTGCAGCGGGAGCGGCAGCTGCGGATGCTGGAAGGTGAGGCTCTGCCCTGAGCACCGCCGGACCCAGCGGGGGCCCTGGACTCACTTGAGGGCATAGGGCAAGCAGGGGCAGAGCCCCTGGGTTTTTAGTCAGGGACTCACCCAGAGGACCCTATCCAAGTGGGGAAGAGAGGACCTAAGACACATGGGAGGGAGCATTTCAGGGACCCATCATGAGAACAGCTGGCACGGGGAGGGGTGGACTCCGTCCAGGCTCCGGCATTCCCAGCTGTGTGACCTTGGGCAAGGTTGCTCCTATCTGCTGCCCAGTTTGCTAAAATCATAAATTGGGTATGACAGTGATCGTGATAACTAGTGTTTATTCTTAATTTTTAACTTCTGAAATGTTTCAGACCTACAGAAAAGTTGCTAAATTTTACAAAGTAGTACATAAAGAATTCCCATGTACCTTTCATGTGGGTTTTACCACATGTGCTTTCTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGACTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTATATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACTTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAACCCACATTTGCTTTCTTTTATCATTCTCTTTCTATATAAAATTATTTTTTTTCTGAACCATTTTGAGAGTAAGTTGCAGACATGATGTCTCTTTCCCCTAAATAATTCAGTGTGCATTTCCTTGAAAAGAAAGGTCATTTTCTTACATTACTGGGTATAACAATCCAACTCAGGAAACTAACGCTGATACAGTACTGGTATCCAGTCTACAGATCTTACTCAGATTTTACCAGTTGTCCCACTATTGTCATTTATAGCAAAAGACTTGGCATTCTGCTGTCATGTCTCAGTCCCTTTCAAAGAGTCCAGGCCAGTTTCTTTTTTTTGGCGGGGGTTGGGGGCTGATGTTTCCTCCGGAGTGGATCAAGTCACTGTTTTGGCAGGACCGCCTCAGCGGTGCTCTTGGGTCCCTCTTGGTGCATCCTTCAGGAGGCACGGAAGGGCTGGTGTTGTGCTGGGTTTTGAAGCTCAAAGGACATAGAAGCATTTATCGGTGGAATAGGGACCCTGACCCTGGGGGAGCCAGGATGCCCACTTGGCCAGATGGAAGCTGGAGGTACCCCCAGGGAGGAGGGAGAGGATAGGGGGAGGGTCTGCCTGGCTGGCTCAGGGAGACCCACCCCCATGGGTGTGGACCAAGTGGGCCGCGTGGAACCACCACCCTTTAACCCTCCTCCACAGATCTGGGCTTCAAGGACCTCACGCTGCAGCCGCGGGGCCCTCTGGAGCCAGGCCCCCCAAAGCCCGGGGTCCCCCAGGAACCCGGACGGGGGCAGCCAGATGCAGTGCCTGAGCCCCCACCGGTAAGCTGTCCTTGGCCTCAGTATCCTCTTCTGTGCCCCTCCCTTGCCTCACCCTGCCCAGTCGGGCTCACAGCACCCTCTGCTCCCAGGTGGGCTGGCAGTGCCCCGGGTGCACCTTCATCAACAAGCCCACGCGGCCTGGCTGTGAGATGTGCTGCCGGGCGCGCCCCGAGGCCTACCAGGTCCCCGCCTCATACCAGCCCGACGAGGAGGAGCGAGCGCGCCTGGCGGGCGAGGAGGAGGCGCTGCGTCAGTACCAGCAGGTGGGCGGGAAAGTCCCTGGACAGACACCTGCAGACCGCACGGGGGAGGTGTAGGCCAGGAAGGGAGACACCTGCGCACTGCCGCGCCTCTCCGTTACTGCCTTGCCCCTCCCAACCATGCTGCTGGCAGTGACCCTGCACCTGGCTGTGACCTGCCCTCTCTCAAAGGTCACCCTGTGGCTGAGACCCGCTCCCTGGCTGTGGCGCACATCCAGGTTCACATGCCCCACTCCCACGTGGGCTGTGGCTCCATCCCCAGCTTTGACACACCACACGAGTATGGCTGGCCATGACCCCAGCACCCTAGCCATGACCCCAGCACCCTAGCCATGACCACACCTCAGCTCGGACCTCACCCCCACCCGTCTGTGACCTAAGCCTGCTCCACCTCGCCGTGACCTCACCCTGGACTCTCCTACTCCTGACCTCTTCCCTCTCGGGCTGGGCCCACCCCTGACTTCCTGAGAGCCTGGCCTGGACCCTCGCTGCGCCCTAGGGGGATGACCCCCGACCCCGGTCCTACGCCTTAGCCCTACCCCGCCCCCATCGTGACACACGCACTAATGACACAGACATTGATCCCCGAGTGCTCCCCATTCTGATCTCACCCCTGGCCCCACCTGCATTCCCCTTGGACCCGGTGCTGCCCCTGGCCACCCCACTCCTGTTCCCGTCTCAGCTCCTCGGCTTCGTCACTTCCCCACCCCTGACGTTGAGTGGCTCCACCAGCCCTGGCCCGGGCCCTGCCCTGCTACCTGACTCACCACTCAGACCCCGGCCCCCTTCCTTACCTTGCTGCCATTGCTGTCTCACCTGGCGCCTTCCGTGGCTACCTGGCCGGCCTCCCCTCCCTTGGCTTCCCCACCTCCACCTGGCCTCACTCCCAGCCCCGCCCCTCCCAACCTGCCTGCTCCTGCCCATCCCCCACCCCCCACCCCCCATCCCCCAGCCCCACCCCCATCCCCCACCCCCGTCCCCCATCCCCCATCCCTACTGGCTCCCAGCTTTGCCTGTGGCTGGTCTGACCCAGCCCTGACCACGCCCCCTGGCCCTTCCCCCTTCGGGGTCTGACCCGCCCCCGAGGCCCTGACCCGCCCCGTGGCCCCGCCCCGTGTGCCCAGCGGAAGCAGCAGCAGCAGGAGGGGAACTACCTGCAGCACGTCCAGCTGGACCAGAGGAGCCTGGTGCTGAACACGGAGCCCGCCGAGTGCCCCGTGTGCTACTCGGTGCTGGCGCCCGGCGAGGCCGTGGTGCTGCGTGAGTGTCTGCACACCTTCTGCAGGTGCGGCCCCCAGTCCCACCCCCGGCAATGCAGCTTAATCAAAGCCGCCAATTACGCAGGGCTGGACGTGGGTGGGGCCCTGTGCTCTGATACCTCATTGGACGCCCGCGAAAACCTACGAGGTAGGCTCCGTCTCCCCATGTTGCGGACGAGGAACCTGAGGGAAAGAGAGGCCCAGCGCCTTACCCCAGGCCCACGGCTCATGAGAGAAGCAGCCTAGACGTGAGCGCAGGCGTGGGGGGAGACTCCCTTCCCCTCTACCTTTCGCCGCCCGGGCTCCTGCAGCCACGCTGCTCTCAGCCTCGCTGTGGGCATCTGCCAGTTTCTGAGTCTCCTGTCATGGCCCCCCCACCCCTGAATGTGGGGAACACAGACCCGCTCACCACAGCGGACCCTTGTGGAGCCGCCCCTGGGTGACAGGCTCCGTGCCTGCCTCCTGCAGCTTACATTCCAGCAGAGAGGCTGATGAGAATCGGATAATCGCTGGTTGATGTCTTTGTGAATTGTGTCAAATGCTACATACAGTACATTAAGAGACAACAGGAGTCCTTCCCAGAGAGGGTGGTCTGGAAGCTTCCAAGGAGGTAGCCCCAGAGCAGGGACCGGAAGGCCTGCTGTAGGTGTGGGGTGTGGGCCTGGCCTGTTGGAGGAGACTGAGGAGGTCTCTTGGTGGCTGGAGCAGAGGGATGAAGGGGGTAATCAGAGCAGGATAGAGAGGTGTTGGGTACGTGAGCAGCAGTGAGGAGTTGGGATTTGTTCTGGGTAGGATGGGAGTCACTGGGGAGACATGGCTGCTGTTCTGAGATAGACTCTAGGGGCCAGATGGATGCAGGGAGCCCAGCGAGGAGGCTCCTGGAGTCACCCAGGTGGGGGATGNNNNNNNNNNNNNNNNNN	benign	310,478
The mutation impacting CSNK2A1 (casein kinase 2 alpha 1) on chromosome 20 at position 499923: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Okur-Chung_neurodevelopmental_syndrome']	TTACCGTTGTTCCAAGATCTGTCCATTCACTGCCCTCTATTTCTCCAACATTACATTAACTTTAAAGAGATACTTTGGGTCTTCAACTCTTAAAAATGAAGAATTACTTAAACATATATTGCGGAAGCTATAATCCACTGTCAGAAACATACTGATCTAGATACGTTAATATGCACTGACACCCACCTATAATTTAGTTTGCTTTTCATGTATCTTCAGACCTTCTCAAAAGAGGCATTTTGGCAAATATACTGCCTCCTTAGTAGGGAACTAACTCATCTTTGCCTTACATAGTTGGCCCTGCAGATCACCAGTGGGTATGCAGATGGCATGATACCAAACCTGTTGAGTCAATTTAACAAAACTATTCTTGTTCCAATTGGAAAGTAAACTCTGAACAACTGTTATGTATCCTTTCCAGTTTCCAAAGAGTTGCAGAATGTTTTTTACATGGACATATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCCTCACTCTGCTGCCCAGGCTGGAGTGCCGTGCTGCAATCATAACTCACTGCAACCTCAAACTCCTGGGCTCAAGCGATCCTCCTACCTCAGCTTCCCCAGTAGCTAGGACTACAGGCGAAAGCCACCATGCCCAGCCACAGGTACGTCTCTTTAATGGTTAGCAACGTCTTCTGACAAAGTTTTTCTTGAAATTATCATTCTGACTCTAAAGCAGTTCCTCTTCCTTTCTCCCTATCTCTGCAACAGAATTCACTAATTTATTAATATATAACATTCTGGATACTGGACTGGTGGAAAGGCAAATCGAAGATTTTTACTTTTACTCCAAAAGAGTAGCTATATTCTTCTGTAAAATTGGAACTGTGTGAAATAAGTAGGCCACTGGATAGACTGGAATTCTGAGATATCTCTTATAGAGGTTTGTGTTATGGCAGAATTTGACATTATCCTTCCTCGATCCCTGCCTTTTAAGATCTATAGCCCACAGTTTATGAGGAATCCTAAGAAATAAGCAGTCCCTACTTTTATACATACAATATATTTCTTCCTGAACACTATTGTTTAAAGCGAATTGCCATATGGCCAGATCCTAAGTGAACGTGTGTTACTGCCTTCATTAGGTTGGACATCAGCAGAAACTGTCAACTAAGTAGTGAGAAGTCAATGTGTTGGTCATTAAAAAGAACATTAAACAAATGGGCAAAATATCAAGATGCAGAAAGTGGGCACTGCTTATATAGGAGTTCTTCTATCTTAAAATTTGCACTGTAAGGATGAAAAGCTTTTTAAAAACAAATGCGAAGCAAGCTCTTCTAACAGCATCATCCCCAAAGGCTATGTGGTCTAAAAACCCACTAGCCCGAAACAGTTGGTTATATATTATACCTTGAAGTCTGTGTTGTTTACGTGTTCAAAAACCAAGGCGGGGGTTCGTGACTAGGGGAAAAGAACAAAAACAAAAACACACATTAGCAATAGCCCTGACAGCTTTAATGGGGACAATGTTTGCGGATGCTGCGTGGTGAAATTTGGCAGTCCTCGCCTCAGTAGTAAGAAACCCTCTATTGCTACAAGCCCTCCCCGCTCTGATCATCACCGCACTTAGGTCATTTTTGGGATGGATTTCAAACAGAAGACATGGAGCTGAAGTCTCACCAGGCTCTAGGCAGCCCGACAATGCGCCCATCGCCCATCGGCATCGGACCTGAGTTTGCAAAATGGATTAACACATTTCAGTTTCCAGTGCTATCAGTCTCTTAGCCTAGAAGAATAAGAAATAGTCTGTGGGTGGAGGTCTCTTTGAAAGAAAGACCCAAGCTAGTTAAATGGTATATCTGATTAAGCACTTTCAAAGCAGGACTTAATGATGAGGGTTGGGGGAGGGAACAAAAAGAGGCCAGTTGTGCTCCAGGTCAAACACCATCTCAGCTCTGGCGGGCCTTGCTAACACCTACTATACTCACCACAGGGTCTTTTACAATGTCTGCCAGTGTGATGATGTTGGGACCTCCTCTCAAATTCTCCAAAATCTTTATTTCACGCTTAATTTTCTTCTTTTTTACTGGCTGAAAGGGGAAAAGTACATCAGCAAAAAAAAAAAAAAAAAATTTTTTCAGAGTATTTCAACACGTAGTGTAATACATAAATGATAAATGGCTTACTTATGAGCACACCTTGAAGGAAGAAAATGTGTCACATTCGTCTCTGAATCCTTCTCCTAGCACTGTGCCAGGTATTCTGCAGGTACTTACAAATGTTGAATTGAAAGAAAAAAAGATTTCTATTCCAAAGACCAGACACTTCTGCAGAATTAGCATTTCAATCATCAGTCTTGATGTTAATGTTTTAAAACATGTTAAACATGTTAATGTCTTAAAACCTTACAAAGTAGCAATTTAAATCGTTAGTAATACTAAAGTATATCAAACTTTTTATCAATTAGGATGAAACATGGGCCCTTTCCATTTCTTCCTCTAATTAGGGCCAACAACAAGGATGGCCAAAACATCTTTGTGTAGCACAACCCTGAGGGTAAAGGGTGAGTCTTGGAGTCACAATGCCCAATGTGAAACCTACCTTTACTACCTGCTGGCTGTTAATGGCAAACTACATAACCTCTCTAAGCCTTTCATTAAGTGTAAAATGAGTAACAAGAGTACCCATCTCATAAGATTGTTGCAAGAATCAAATGAGGTATTCGAAAGATTTCGGAATATGGCTGAAACATAACATAATAATAACTGTCTAGCCTGATCACCAATGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAGGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCCAATACTCTTATAAATGAACCCCTCCATTCTAAAGAGTATTCTGCAGAGCATATCTTAAACATTCCTTTGTCCTTACCCATTCTTTCCACATCTGTTCTAGTATGGAATCCTTTTCATTTTTTTCTGAGGAGGGCCTTGGTCCCACTGCACCTCCTTTATAAAGCCTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCAGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGATCGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGGCTTATATTATAAAGCCTTCTCCTGAATAGTCTAAAACAGTGCTGGCCCAAAGGAAATATAATACAAACCACATGTGTAATTTTAAATGTGTTAGTAGCCACATCAAGAAAATTTTAAAAAGGACAAAATTAATGTACTTTATTAATCTAAAATCTTAACATATAAATCAATATAAAAATTATTAATCTATTTTACCTTTTTTTGTATTAAACCCTTGAAATCTAATGTATTTTACTCTTACAGCATATCTCAATTCAGCCCAGCCATATTTCAAGTGCTTAACAGCCTCATGTGGCCTGCGTGCCTGCTGTACTGGACTGTGCAGGTCTTTTCCTAGGGTGTTGGTCACCTCAGACTAGATGCACTGCATATAACTCTTAGAAGTTAAGTACATCTCATCTCTTCATTAACAAGATTGGTGGTTACTAAAGTTTGATGACCAACAATCACCTGGATTTTTTTAATATACAGACTCACAGAACCCACCAAGATTCACTAAATCAAAATCTTGAGAGGGAAACGGGGGATTTATTTTTAGATACTTTCCAGGCTGATGATCCAGGTCCAGAAACTACCAAATAATACTATAAATTCTTTTAACTTTGTCTT	TTACCGTTGTTCCAAGATCTGTCCATTCACTGCCCTCTATTTCTCCAACATTACATTAACTTTAAAGAGATACTTTGGGTCTTCAACTCTTAAAAATGAAGAATTACTTAAACATATATTGCGGAAGCTATAATCCACTGTCAGAAACATACTGATCTAGATACGTTAATATGCACTGACACCCACCTATAATTTAGTTTGCTTTTCATGTATCTTCAGACCTTCTCAAAAGAGGCATTTTGGCAAATATACTGCCTCCTTAGTAGGGAACTAACTCATCTTTGCCTTACATAGTTGGCCCTGCAGATCACCAGTGGGTATGCAGATGGCATGATACCAAACCTGTTGAGTCAATTTAACAAAACTATTCTTGTTCCAATTGGAAAGTAAACTCTGAACAACTGTTATGTATCCTTTCCAGTTTCCAAAGAGTTGCAGAATGTTTTTTACATGGACATATCTTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTCCTCACTCTGCTGCCCAGGCTGGAGTGCCGTGCTGCAATCATAACTCACTGCAACCTCAAACTCCTGGGCTCAAGCGATCCTCCTACCTCAGCTTCCCCAGTAGCTAGGACTACAGGCGAAAGCCACCATGCCCAGCCACAGGTACGTCTCTTTAATGGTTAGCAACGTCTTCTGACAAAGTTTTTCTTGAAATTATCATTCTGACTCTAAAGCAGTTCCTCTTCCTTTCTCCCTATCTCTGCAACAGAATTCACTAATTTATTAATATATAACATTCTGGATACTGGACTGGTGGAAAGGCAAATCGAAGATTTTTACTTTTACTCCAAAAGAGTAGCTATATTCTTCTGTAAAATTGGAACTGTGTGAAATAAGTAGGCCACTGGATAGACTGGAATTCTGAGATATCTCTTATAGAGGTTTGTGTTATGGCAGAATTTGACATTATCCTTCCTCGATCCCTGCCTTTTAAGATCTATAGCCCACAGTTTATGAGGAATCCTAAGAAATAAGCAGTCCCTACTTTTATACATACAATATATTTCTTCCTGAACACTATTGTTTAAAGCGAATTGCCATATGGCCAGATCCTAAGTGAACGTGTGTTACTGCCTTCATTAGGTTGGACATCAGCAGAAACTGTCAACTAAGTAGTGAGAAGTCAATGTGTTGGTCATTAAAAAGAACATTAAACAAATGGGCAAAATATCAAGATGCAGAAAGTGGGCACTGCTTATATAGGAGTTCTTCTATCTTAAAATTTGCACTGTAAGGATGAAAAGCTTTTTAAAAACAAATGCGAAGCAAGCTCTTCTAACAGCATCATCCCCAAAGGCTATGTGGTCTAAAAACCCACTAGCCCGAAACAGTTGGTTATATATTATACCTTGAAGTCTGTGTTGTTTACGTGTTCAAAAACCAAGGCGGGGGTTCGTGACTAGGGGAAAAGAACAAAAACAAAAACACACATTAGCAATAGCCCTGACAGCTTTAATGGGGACAATGTTTGCGGATGCTGCGTGGTGAAATTTGGCAGTCCTCGCCTCAGTAGTAAGAAACCCTCTATTGCTACAAGCCCTCCCCGCTCTGATCATCACCGCACTTAGGTCATTTTTGGGATGGATTTCAAACAGAAGACATGGAGCTGAAGTCTCACCAGGCTCTAGGCAGCCCGACAATGCGCCCATCGCCCATCGGCATCGGACCTGAGTTTGCAAAATGGATTAACACATTTCAGTTTCCAGTGCTATCAGTCTCTTAGCCTAGAAGAATAAGAAATAGTCTGTGGGTGGAGGTCTCTTTGAAAGAAAGACCCAAGCTAGTTAAATGGTATATCTGATTAAGCACTTTCAAAGCAGGACTTAATGATGAGGGTTGGGGGAGGGAACAAAAAGAGGCCAGTTGTGCTCCAGGTCAAACACCATCTCAGCTCTGGCGGGCCTTGCTAACACCTACTATACTCACCACAGGGTCTTTTACAATGTCTGCCAGTGTGATGATGTTGGGACCTCCTCTCAAATTCTCCAAAATCTTTATTTCACGCTTAATTTTCTTCTTTTTTTACTGGCTGAAAGGGGAAAAGTACATCAGCAAAAAAAAAAAAAAAAAATTTTTTCAGAGTATTTCAACACGTAGTGTAATACATAAATGATAAATGGCTTACTTATGAGCACACCTTGAAGGAAGAAAATGTGTCACATTCGTCTCTGAATCCTTCTCCTAGCACTGTGCCAGGTATTCTGCAGGTACTTACAAATGTTGAATTGAAAGAAAAAAAGATTTCTATTCCAAAGACCAGACACTTCTGCAGAATTAGCATTTCAATCATCAGTCTTGATGTTAATGTTTTAAAACATGTTAAACATGTTAATGTCTTAAAACCTTACAAAGTAGCAATTTAAATCGTTAGTAATACTAAAGTATATCAAACTTTTTATCAATTAGGATGAAACATGGGCCCTTTCCATTTCTTCCTCTAATTAGGGCCAACAACAAGGATGGCCAAAACATCTTTGTGTAGCACAACCCTGAGGGTAAAGGGTGAGTCTTGGAGTCACAATGCCCAATGTGAAACCTACCTTTACTACCTGCTGGCTGTTAATGGCAAACTACATAACCTCTCTAAGCCTTTCATTAAGTGTAAAATGAGTAACAAGAGTACCCATCTCATAAGATTGTTGCAAGAATCAAATGAGGTATTCGAAAGATTTCGGAATATGGCTGAAACATAACATAATAATAACTGTCTAGCCTGATCACCAATGCTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCCGCCTCCTGGGTTCACGCCATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAGGCCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCCAATACTCTTATAAATGAACCCCTCCATTCTAAAGAGTATTCTGCAGAGCATATCTTAAACATTCCTTTGTCCTTACCCATTCTTTCCACATCTGTTCTAGTATGGAATCCTTTTCATTTTTTTCTGAGGAGGGCCTTGGTCCCACTGCACCTCCTTTATAAAGCCTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGTAGTAGCATGATCTCAGCTCACTGCAACTTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCAGCCACCATGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCATCATGTTGGTCAGGATCGTCTCGAACTCCTGACCTCATGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGGATTATAGGCATGAGCCACTGTGCCTGGGCTTATATTATAAAGCCTTCTCCTGAATAGTCTAAAACAGTGCTGGCCCAAAGGAAATATAATACAAACCACATGTGTAATTTTAAATGTGTTAGTAGCCACATCAAGAAAATTTTAAAAAGGACAAAATTAATGTACTTTATTAATCTAAAATCTTAACATATAAATCAATATAAAAATTATTAATCTATTTTACCTTTTTTTGTATTAAACCCTTGAAATCTAATGTATTTTACTCTTACAGCATATCTCAATTCAGCCCAGCCATATTTCAAGTGCTTAACAGCCTCATGTGGCCTGCGTGCCTGCTGTACTGGACTGTGCAGGTCTTTTCCTAGGGTGTTGGTCACCTCAGACTAGATGCACTGCATATAACTCTTAGAAGTTAAGTACATCTCATCTCTTCATTAACAAGATTGGTGGTTACTAAAGTTTGATGACCAACAATCACCTGGATTTTTTTAATATACAGACTCACAGAACCCACCAAGATTCACTAAATCAAAATCTTGAGAGGGAAACGGGGGATTTATTTTTAGATACTTTCCAGGCTGATGATCCAGGTCCAGAAACTACCAAATAATACTATAAATTCTTTTAACTTTGTCT	pathogenic	310,549
The genetic variant at chromosome 20, position 761009, affecting gene SLC52A3 (solute carrier family 52 member 3): benign or pathogenic? Disease name(s) if pathogenic?	benign	ATAAAAGTGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAGAGAAACTGGGCAGATGAGGGAGAGGAAAGGGATGAAAACCTTTCTCTGTACACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGAGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGC	ATAAAAGTGCTCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTAAGAGAAACTGGGCAGATGAGGGAGAGGAAAGGGATGAAAACCTTTCTCTGTACACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGAGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCN	benign	310,561
Determine if the mutation at chromosome 20, position 761109 in gene SLC52A3 (solute carrier family 52 member 3) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Brown-Vialetto-van_Laere_syndrome_1']	CACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGAGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTC	CACCTTATATTTTCTGATTTTTTGAAACACGTGACTGTATTACCTATTCACAGTAAGTTAACAGGGATGGGAAGCATGGTGGTGGCAAGCAAACGAAACCTCTAAAAAGAAGTCCCAGGGGCCGGGCGCAGTGGCTAACTCTTATGATCTTAGCGCTTTGAGAGGCCAAGGTGGGCAGATTGCCTGAACTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAGACCTCGTCTCTACTGAAAATACAAAAAATATGCCAGGTGTGGTAGTGCGCACCTGTAGTCCCAGCTACTCCGGAGACTGAGAGGCAGGAGAGTCACTTAAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATCACACCACTGCACTCCAGCCTGAGCAACAGGCAGGACTCTGCTTCCAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGACCTGAGATTGCGCCACGGCACTCCAGCCTGGGTGACAGAGCAAGACTCCATCTCAAAACAAAAAAAGCCCCAGAACCAGACATCCTTAAGCACTTGATTCTGTTCATTTCTGAGCTCAGCCTTGAGCTTAGAACCAAGTGAAAACTAATTACACATTTTCGGAGTTCACATTAAACTTCTTCTTTTTAAAATTATTATTTTTGAGACAGAATCTTGCTCTGTCACCCAGGCTGGAGGGCAGTGGCACGATCTCAGCTCACTGCAGCCTCCACCTCTGGGGTTCAAGCAATTCTCAGTCTCCTGAGTAGCTGGGACTACAAGCATGTGCCACCATGACCAGCAATTTTTTGTATTTTTAGTAGAGATGGGTTTTTGCCATGTTGGCCAGGCTGATCTCAAACTCCTGGCCTCAAGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCATGCCTGAACTTCTCCTTTGAAGGAAGATCTGAGTGTAAAAGCAGGGAATGCCTTTATTTAAAAAAATGAAAAACAGAAACTAAAACAAAATAACAATCACCTCTGTTGCCTCCATTTGAGAGAATACTTCCAGGGGCTCTGCATGTCTGGTCCCCAACCTGGTCGGGGAGTTCACTTTCAGAGGCTCAGGGATGGGCCTTCCCCAGCCCCACCAGCAAATCATCTCTCCCGGCTTCCAGGAGGGTACTTACTCTCCAACTAGTGGGCTTTATGGGCCAGGAAGGATGACAGGAAGGGGTGTGTGGGGTACTACGTCCCTCCACACTGAGAATCCGAAAGCCAAGATGCCCAAGATTCTATCGTTATCTGCTTGTCTTGTAGAAGCCCCTCTGTGAGACTGAGGGGCAAAGGAGAGAGGGCAGGGGCGTGTCTCAACCCTTCTGGCCACTTCTAGGTTGTGCAGACTGCCACTCTTGTTACTACGATGGACTGTCAGATCAGCAGGTGGCCCAGGAGGGCTTGCTTGATGCGGGCTGCTTTTTCCTTTTGCCTCCGTGCCATGCCTGTGAGGTAGTTGGTACTTACTGGAATCCCCACTGCATGCATGAAGAAACAGGCACAGAGAAGCCAAATGACTTTCCCAAGGTCACACAGCCTGAAGGGACAGCCGGCTGTCCCAGCTGTTTCCCTTCTAACACCCTTGGGCCTGCCTCCAGCTAGATGCTGCAAATCAGTCCTCTCTTGAGAGTCAAAGCAAAGGAGATCTGAGCTGGTCGTCACAGGTAGTGTGACACAGAGTTGGGGATAGAGCCGCACCTTGCATTTCCAGGTGCCATCTTCCCCACAGTCCCCAGTGGGCACTTGCGTTCATGATTCAATTACTCAGGCTCTGTCTCTCTGTTCCTGCCCCTTGCTCTGTGACCTGGCCTCTCTGGACCCCAGTTCCGTCCGTGAGCGATGGGGGCGGGGTCGGCGGCCTGCCTAGGCTGGACAGTGCAGATTGCAGAAGTCCGCGGACGAGAAGAGCCGCAGCACGTTGACCAGAGGGAACATGAGCAGCGCTCCGCAGCGAGCCCAGCTGCACCGCCGCCCCGCACCACAAGAGGGCGCTGCGGCTGAGGTCGCGCAGGACCACGCCCAGCATCACCTTGACGTAACTGAGGCAGCCGCTGAAAAGCACCCACGAGGCCACCTGCGGGGCCGGGAGGGAAGAGGTGCAGAGTCACGGGGCTTGCGGGGCGAGCGCCGGAGCAAAGAACTCTCACAGGGCTCAGGGGAACCCACGGAATACTCTCTAGGTGCGAGGAGCGCCTTCTGGGAGTGAGCCTGCGGGGCCGACGGGTCCCATGAGTTGGCCGCCCGGGGGCGAAGGAGAATCCAGTGGCTTTTCTGGGTTCACGTGCCCATGATCAGGGCAAGGGCCCTTGAGAGAAGGCCCCTGCTGAGGTACACATGGTGGGAAGAGGCCTACCAGTCACCTCGATTCCCTAAGCCTCCACTCCCAAATGAGGAAGGGGCGCTTCCCCCACCTGGGGCTTCCCGGGAGGGTCCCACAGACCCCGCTCGCTGGAAAGGGCCGCGCCCAAGCTCTCCCAGGCCTTGGCTAGGGGTGAGGGGTACGCAGCGGGAGCAGCCCCACCGGCCGGATACTCACAATGAGGACTTCCCCACCCCAGTGGCCCTGCAAGAGGGGGCAGGGGCTCATCACCGCCATGGCCATGTTGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCNN	pathogenic	310,563
The mutation impacting SLC52A3 (solute carrier family 52 member 3) on chromosome 20 at position 763817: benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Brown-Vialetto-van_Laere_syndrome_1', 'Inborn_genetic_diseases']	TGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCA	TGTAGCCCCCAAAGCAGGTCCCAAGCACGGAGAGGACCCCCAGGAACAGCAGAGACCTAGAGGAAAGTAGGGGAGGTGAGTGGAGGTGAGAAGCCTGACCTCTGACCCCCCCGCCCCACTGGGCGGCATGTGGATGGCCAGTGTCTCCATAGTTAGTTTAGACCCATGTGGAAAATTCCAGGTTGCCTGGCTCAAGTGGGTCAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCAN	pathogenic	310,592
Clinical significance of chromosome 20, position 764018, gene SLC52A3 (solute carrier family 52 member 3): benign or pathogenic? Name the disease(s) if pathogenic.	benign	CAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAAT	CAGGGAGGCTCCTGAGCAGGCAGGGCTGGCCTGAGTCATCCCCAGCATTAACGGCAGGGCCTGGCACCCCGGCAAGAAAAACATAATGGACTCTGGCACCGGATGGTCCTGGTTCAAATCCCAGTTCTACTGTTTAAGCTGAGACTCGCCTCTGAGCCTCCAAATCGGAGTTTTGCAAGGCTGCATGACCTCCAGGAGCAGAGCATGCAGGCCTGGCGCCGCTGTGGGCCCACCTGGTGTTTACCTGCTGGCATTTCCTCCTGCAACACACCCTCAGCCTCAGCCAGGAAGCTGAGTTGAAGTGAAGATGGCTGGATCGGGCATTGGCACAGTAGGGTTTGCTGTGCCTCCTCAGGAGACCCCTCCCCTTCTGGCCTCAGCTACCTGCCTCTGCAATGTGGAGTGTGCTGATCTCCAGGGGTCCTGGCAGCTGGCTTGTTGCTGCTAGGAGCATCTCTCTACAGGTGGCCTTCCATGCAAACCTACATCTGGGACCACTGTCCTTCCTCACAGGTCCTTGTCCCTGGGGTCCCAATCTCTAGAACCCCAAGACTGGTCCACGCCCTGGGTAAGAACAGACAGAGGTCTGCCTATACCCTTAAAGACTCTTTCTGCTCCAAGATTCTTGGATTCCATGACTCAGATTCTGTAATTCTAACATTTGGGGTTTCTTGGATTTGCAGGTCTGAGCCTTTGGTCCTGCTTCCCTCAAATCCTCCATCCTCTTTCCAGTTTCTAGGTCCCAAGGTAGAAAATCCAGCTTCCTGGCAAGCTTTCTGTCAAGCTCTTCTGTCCTCACTGTCCTTCTTCTGGGCTGGGAGAGTGGGTGTAAGCAGGCCAGTGAGGACAGGCAGGCCAGCGTGGATACGAGGCTGTAGGACCCACCTCAAATGTCAAGATCCCAAGGTGGTAGTTCTCCTACAGGGGTCTGAAGCCCCTGCCTCAGAACCGTCTGGTTTCCTTACTAAAAATTGAAATCCCAGGTCCCAGTCTAGGCTGGTTCAATCTGCATTTTATCAACTTGCCCAGCCATTCTTCTAGAACTGTGGCTCTAAGGGAACCAGCAGGAGGTTAGAGGCAGGAAGGCAGGGCCGAAATCCTGGGAATTAGACCAGGTCAAGCTCTTTCTCCAAGCCTCAGGGTTTCCCCTTATAAACGGGAACCTCAGTGGCTATCTGCTCCTCCTCATGGACTGATGACAATGATGGTCAACGCTTAGGCTGGACCTGCCACGTGCCAGGCACCGCTCCAAGAGCTTTATAGAATCAGCTCATATCATGCTTCCAGCAGTCCTAGGAGGTGGAATGTTACACTCCCATTTTCCGATAAATATCCCTGAGGCACAGAGAACTGAAGTGACTTGTCTTACACACAGCTGACAGGTGGCAGAGCTGGGATTTGGACCAGGGTGCTCCCCAAACATGTTCTTAACCACTACATGTACAGCCCAGTAGGTGCGTTTGGAATTCTGGGTTCTGAAATGAAGTGTTCCCCCACTAGGATTCCCTAGGACCAGATGAGGGCACACCTGTTAGGCAGGAACATGGAGACCAACGAGGCAAGAGGGTTGGCCACAATGCTGAGGGTGGCAGCCAGGTGGTAGGCAACTGGCCCATAGGACAGGCAGGAGTAGGTCTGCACAGAGGGCAGCATGCCGTTGGTGAGCGCGTTGACGAAGGCCACCAGGGTATAGATGAAGGCCAGGTGCGCCGGGCAGCAGGGGGCTGCTTTCTCCTCTAGATACCCCTGGCCCTGGCTGCTGTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGGTCAATCAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGT	benign	310,600
The genetic variant at chromosome 20, position 765779, affecting gene SLC52A3 (solute carrier family 52 member 3): benign or pathogenic? Disease name(s) if pathogenic?	benign	GTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTATCTGCCCTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAATAAGATTTCAATCTGGCTTTTTTTCCTCCTGAAATTATATCACTCTCTACGTGGCCTTTGGAGACCACTTCCTCTAGCCCTCCAGAG	GTCCACCGTGCCTGCAGGGCCCAAGTCATTCTCTTCCCGCGGCCGGATGGAGTGGAGGGTGACCTGGTCATTGAGGAGGTCTTCCACGGAAGCCTCCCAGCACCTGGGTTGACGCTGGAGGACAAAGAACGCCACGAGGCAGCAGGCCATCATGATGGATAGGAGGAGGAAGAAGACCAGGGGTGAGAAGTGGGCGGGAAGGTAGCGGCTCTCCAGGTGGGACAAGGGTGCTTCCATTCCGGGGAGGGCGGACACCAAAGCTCTGGGAACTCCCTGCAAAGGACAAGACAGATCCCTGGTCAGGGGAGGGGATCAGGCTGCAGAACAACAATCATGACAGTGATAACAGAATACAGATCACCTGTTATTATTAATGGATAATGAATAAATAAACATAACTAACAAGGTGGCAATAATGACTGCTCATACTGACTGCCCACTGAGCACGGGCACTGTGCATGGATAAGCCCCTATGCCTCCTAACAGGGCTGCACAGTGGGCACCATCATCCCCCATTTTAGAGGGAACTGAGGTATCAGAATGCTTCGTCCCTTACCTGAGGGTCACAGGGAGAATGTGGCAAAGCCAGACTCCACCTGGTGCTTTCTGACTTGGAAGCTACACCTTTTATCACCCCACAGCAGTGGCAACCACAAACATGTTCAGAGGAGGAGCTAGCTGGAGACTGAGCAGTGGAGCCGCCCACCTAAGAGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGGGAGAATCCCCCACCTAAGGGGAGAGCCCCCACCTAAGGAAGAACACTGCTCCACCCATCGTCTAGGAAATAAGGGCCTTCAGGACATGCCATCCCAAAATATGACTGTAGGAGGCCAGAATATGCCACCCCAAAATTGACCTATTGGCATATTTTTTATTTCTAGCTGGTTATTTTGAAAAATTGCAGGCTAAGGAGTAGCTCTGAAAAGTTGCCATTTTGTAAGATAAATTTACATCTAAAGGAAATTTTTATTAGTAAAGCTATCTTATCTGTACCAAGAAAAGGTATCTGTACCACGAAGGGGTATCTGAACCAGGAAGAGAAAGGTGATGGCCTTTATCACCCGAGGAACTTTTATCTGCATAACAGTGCAATGTTTATTCACCATAAGTTTCCTCCCTTCACTCTCCCATAATTTGTCTCCACCATCCTGCAGTAGCCTCAAGCCCCTATTCCCTTTTGTAGCTCAGGATGCTATAGAAGCTGAAATCATCTGGCCCTTTTTTGAGTCTCATATTTTTTGGGGACTCCCATGCGTATGTATGTAAGTAATTAAAATGAGTTTCCTGCTGTTGATCTGCCTTATGTCAGTTTAACTCATAGGCCGACCAAAGAACCTAGAAGGATGGAGGTGAGCAGTTTTTCCCTCCCCTACATTTGTGATAAAGCCAAGTGCTGAGATGGCTCCGGGTGATGCTGGGTACCTGTGCGATGTCAGTCTCCCTCGTGGGTACAGGGCTTGGTACGCTGTCTGATATCTCAGTGACATTGACGCAGGTAGTGAGACCGGAGCCCTGGGCAAGAGCCACCAGGGCGGGCAAGAGGCCGCTGAGTCCTTCACCCACAAAGAAGGTGGTGAGGTAGTAGGTGGGCAGCCGGCTCATGAACGGCAGGAAGGTCACTGAAGAGGTGCAGTCCACCAGGGCCAGGAAGAAGGTGAGGACCAAGAAGGCGATGCTGTGGTGGCCGTCCAGCACCCAGGAGGTCATATTCCAGAGGAAGGCAAAGATGATGCAGGTGACGGTTCCCACGCCCAGCAGGGTGAAGATGATGGGCACTTCGGAAAGGCAGCTGGGCCGGAAGTGATGGAGCAGGGTGACCAGGAGGGGCCCGATGTTGGCCAGCTGGATGACCACCGTGAGGTAGGAGGGCAGGTACCAGCCCTCGGGCAGCTCCATCACCAGCAGGGGCAGCTCTACCCAGAGCCCATTGATGGTCACCCAGGAGCCCATTCCGAAGACGCAGACCAGCAGGTGCATCAGGAAGGCCATGGCGGTGGGCCAGAGGCTTTCTCAGATCAGCCTGCAGCGGGGCTGGCAGAGAAGGACACCAGGTGAGTAATTCCAGCTTCACCACCTAGCAAGATGCTGGGACCTGGGGCCCAGAGTTTTCTCTTATTACTCCCCTTCCTGTGAACAAGCTGGCTTTTTTTTTTTTCCTTTGAGACATAGTTTCACTCTTTTAGTCCAGGCTGGAGTGCAATGGGATGATCTCGGCTCAGTGACCCTCTGCCTCCTGGGCTCAAGTGATTCTCCTGCCTCAGTTTCCCAAATAGCTGGGATTACAGGTGCATGCCACCATGCCAGCTAATTTTGTATTTTTAGTGGAAACAGGGTTTCCCCACGTTGGTCAGGCTGGTCTCGAACTCCTGGCCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGTGTGAGCCACCACGCCTGGCCCAAGCTGTCTTTTTATTAGCAGAAAACAAGAGAAGCCTTTCCTAACCGTGATTCATGAAAGAAAAGTTCAATCCGACACACAAAAGCAAACAAAGCAGCTTCTGCAAAAGATACCAACAGCAAGGTCAAAAGTTAAATGAAAACACGGGGAAAACATTTGCCACATAAATCACAGACAAAGGGCTCATCTTCCTTGTCAGGCCTCTGAGCCCAAGCCTGCGCGTGTACATCCAGATGGCCTGAAGTAACTGAAGAATCACAAAAGAAGTGAAAATGGCCGGTTCCTGCCTTAACTGATGATATTACCTTGTGAAATTCCTTCTCCTGGCTCAGAAGCTCCCCTACTGAGCACCTTGTGACCCCCACCCCTGCCCGCCAGGGAACAACCCCCTTTGACTGTAATTTTCCACTACCTACCCAAATCCTATAAAACTGCCCCACCCCTATCTCCCTTCGCTGACTCTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCTTGTTGCTCACACAAAGCCTGTTTGATGGTCTCTTCACATGGACGCGCGTGACATTCCTAATATATAAAGAGTTTTTAAAAATCAAGAACAAAGAGACCCCATATAGAAGAGGGCCAAGGATATGAACAATTCAGAGAAAAAGGTACAAATAAGCTTTAAACACATGAAAATATTATCACCTTCATTCACAATAGGAAAACTACTCCAGGTGCCATTTCTCACCATGAGATTGTCCCAAAGCCTGACAAAATGACTCATGTTCAAGGTTATTATAGATTGCGATCTTGTTGGTAATAGCAAGTTATGGGAAATTTTCTCCTGGGTGGCTACCAACAGAGAGGGGGCTAATTAAAGGGACCTGCTGGAATACCACATACCTGTTTAAAGGAATAAGAAATAAGGAAAGCAGATCTTGGTGACTGATAAGGAAAGGTCTCCAGGCTATAATAATAATCTTGAAACAAAATCAAGGCAGGTAAATGGAACCAGGAAAAAGTGTACTGCCTTTTGGTCATAGAAGAGGAGGAAAAACATGTTTTCTTTGCTTGTACTTGCACAAAGCAACCCTTGAAGGACACACAGGGACTGCAGGGATGTTGGTGATGCCTCTGTATATCTTTTTTTTTTTTCTTGTGACAGAGTCTTACTCTGTCACCAGGCTGGAGTGAAGTGGCACAATCTCAGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCACCACTACGCCCAGCTAATTTTTTGTATTTTTATTAGAGATGGGGTTTCTCCGTGTTAGCCAGGATGGTCTCAATCTCCTGATCTTGTGATCCACCCTCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCTCCTGGCCCTGCCTCTGTATATCTTTTAATAAGAGTTTTGATTTGTGAACCATGTAAACATATTACCTGATGCAAATATATGGTTACCTGAAATAAGATTTCAATCTGGCTTTTTTTCCTCCTGAAATTATATCACTCTCTACGTGGCCTTTGGAGACCACTTCCTCTAGCCCTCCAGAGNNNNNNNNN	benign	310,623
Variant at chromosome position 2431011, chromosome 20, gene TGM6 (transglutaminase 6): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	benign	ATAGGCACAACACCACGCCCTGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCAACATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCGGCCTATAATTATTATTTATTACTGTTATTGTAATAAAGGTTCTTCCAATAATGACCTACTGAACTAAGGGAGCCCATAAAACAAAATCATACTTTAACACATGAATCACCCTACTGGCATTCAGGAGAATCTACGATATGCAAAGCCCTGGGGTAGCAGAGCGCATGAGCCAAGTTGAGCCCTTTAAGGACCTTTTCCATGAGTTAAAAACTCAGATGCCTTCAGAGTCAGAAAGAAAACAGAAATAAAGGAAGCAGTGGGAGTAGAACAATAGGGAATGAGAGGGCCTGGGAGCAAACCAGAAAGAGCACATTGAACCTAAAAGAAAGAATATATAGTAGTCAGAAAAAAAAAAAAAACAAATATGGTCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGAGAGGATCATGAGGTCAAAAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTCGCGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAGACTGAGGTTTATGGTGATCCATGCTTACAAGAAAAGAACACCTAGGAAGGATGTTTCTGACTGGTGAGAGGGAGACAGAGATGGCCAGGACCACAGGAGCTCAGAGAGCATGAGAGCACTGGGAGGAGGTGTCAGTGAAGACTTCCCTCAGTTGGTGGGGCTGACCAGGACTGGGCCTTCATGGAGGGGGGCATTTGGAAAAGTTGTAGGGAATTGGCCTCACAGGATTGGAAGATTGAGGCATGCCTTTGGTCTTCCTCTTCTCTGCTCCTAGCACATAGTAGGTGCTCAATAAACAGAGAAGGATGGGATGAATGGATGATGGGCTGAGAGATTTTCATCTTGAATAAGTAGGGAAAGCTTGGAAACATCTCTGGGGGCTCTTGGAGAAATTATCTGGTATTGTGGTAGCTCCCTGACCTAAATTTGACTCCCACCTCATCTTAATTTCTTGGTTTACTTCCTATATGAGTTTGAACAGGAAAATACCCACTCTGGGCCTTAGGTTTCTTCATCTGAGAACCGAGGAAAATAAAGCCTGTCTCAGAATGGTTGCAAGGACCAGAGAGAAAGGAGCTATTAGTTGTGCATTCCCTTCCTTCTTCCCAGTGCCATTGAAGAAAGACATCAAGCCCCAACTCCCACTTCTGCTTTCCCTTCCAGAGAAGAGAATCCCAATTACAATATCTTACTCTAAGTATAAAGAAGACCTGACAGAGGACAAGAAGATCCTGTTGGCTGCCATGTGCCTTGTCACCAAAGGAGAGAAGCTTCTGGTGGAGAAGGACATTACTCTAGAGGACTTCATCACCATCAAGGTGACCTCAGCCTGCATCTACCATGCTGTTCCTAGTGGCACCCACTCCCCAGAGCTGGGGGAGGGCGTCAGAAGCTGGGGGGGTTTGTGCCTTTAACTCCAGCTTTAGCTCTCCAGGGTGGGAGGAGTGGGTTGGACATAAGGGGATGGGTGCAATAGTGGCACTCAGCAATGGGGTATATGGAGGTGGGGGTGGACATGACTAATGATCCATCCTCTAACTCAGCCAGGACCATCGGTTTCCTGGAGGGAGGAGGGGTAGGCGCGATGGCTCATGGGTGTTGTCCCCTTCAGGTTCTGGGCCCAGCCATGGTGGGAGTGGCAGTTACAGTGGAAGTGACAGTAGTCAACCCCCTCATAGAGAGAGTGAAGGACTGTGCGCTGATGGTGGAGGGCAGCGGCCTTCTCCAGGAACAGCTCAGCATCGAGTAAGTGCCAGCCTGGGGGGCTGGCAGGGAATGGGGCTCTCTTCCTTGTGGATGAGCCAGAGAGAAGTTGCCAGGGATGGGGGTGTGAGAGAGATTCTGGACACCCCAGGAACCAGCCCACAGACTATACATATCAGCCTTCATTCACTTATTTATTCCTTCATTCATCCAATCATTCATTTACTCAAATCATATAACTCATTCACTCAGTCATTCACTCATATCATTCATTCATACTTTCATTTATTTATCCATTTATTCACTCACTTTCATTCATTTGCTCTCTTTCACTCATTCATTCATGCATTCTTCAATTTGCTTACTCTTTATTCACTCATTTGTTCATTTTTTCATTCACTTATTCCTACATTTATGCTTCACTCATTCATTCACACATGTTCCCATTTGTTCATGGATTCGTTTATTTACTTATTCATTGTCAATCATTCATTCACTCCTTCATTCTTCCATTCATCCACTTGCAACTCATGTGGTCCTTGATTATACTGACCTGTACTCTGGCCCATGTGTAATTGTTAGGAACACTAAGATGGACAGAAACAGTTTTGCCTGGAGAAGGGCTCTCAGATACAGATGGCCCTTCACATGAGGACAGTGTGATTTGTGAAAAAGATCTTGTCCAAGGTCTGGGGGAGCAAAAGCAGCCCTTAAGTGAGGGTGGGGCCAGGAAGAAGTCCCAGTGGAGCTGGTGTTTGAGCTGAGCCTTAAATGATGAATTGAGATTTTCAGGTATCAAGAAGTAAGGACGGTTTGCCAGGCAAAGGTCTTGGTGTCAACACCTGATGGCTGGTGTTGTCAGGGAAGGTCTCCTGGAAAAAGAGAACTTGATTTGGGCCTTGGGTGGATTGGAATAAGAAAGGCATCCTAGGTGGAACAGAGCAGATGAAAGCCCAGAGGGGGGAAGTTCAGGGCACAGACAGAAAACTAGCCTGGCTAGATGGGAAGAGTGTGGGTGGTAGAAGAGAAAATTAAATTGGAAATATGTTTTTTTGGTTGTTGTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTTGCCCCAGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCTCCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACTGCACCCGGCTAATTTTTGTATTTTAGTAGAGATGAGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCAGCCTCCCAGTGTGCTGGGATTACAGGAGTGAGCCACCGCACCTGGCCTGCAAACATGTTGATAAGGCTTGAATGTCAAGCCACAAGGTGAACTTGATCCTGAGGAGCCTGGGGAGCCGTGGATTGGCAGGCCAGACTCAGAATGGCAAGAGGACTGACAGTCTGCCTTTCTCCCCTCCCCTTCCTCCAGCGTGCCTACCCTGGAGCCTCAGGAGAGGGCCTCAGTCCAGTTTGACATCACCCCCTCCAAAAGTGGCCCAAGGCAGCTGCAGGTGGACCTTGTAAGCCCTCACTTCCCGGACATCAAGGGCTTTGTGATCGTCCATGTGGCCACTGCCAAGTGATGGATCATGAGGGACTGAGAGGGGTGGATTTGGCCCCTGTCCTCCTCCTGCCCATTCTTTGTCTCTTCCACATGGGAGCCAGGAGGCCTCAGTTAATCCTGCCTCAACCTCTGCCCTACTTTGTAAACTTAGGCAAGTTCCTTCTCCTCCTGGGCCTCAGTTTACTCTTCTGTAAAATGAAGTGTTGCACTCAGTAATCCTTAAACTTTTGGACAACCATAGATGATGTAAGAACCGAGGGAGCCTCTCCAACCTTCATCTCTCATCCCCATGGCTGGGAGGTTGACAGACCCGAGCATCAGAGAAACCCTGGCCCACTCAGCTCTGCCATCTTCCACCCTGCCACCTCGCTGTCACCCTGGCTGACCCTTGGACTCTCCTTGCTTTTCAAATGCCCTGGCCACATCAAGAGCCA	ATAGGCACAACACCACGCCCTGCTAATTTTGTAATTTTTTTTAGTAGAGACAGGGTTTCAACATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTCACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACGGCACCCGGCCTATAATTATTATTTATTACTGTTATTGTAATAAAGGTTCTTCCAATAATGACCTACTGAACTAAGGGAGCCCATAAAACAAAATCATACTTTAACACATGAATCACCCTACTGGCATTCAGGAGAATCTACGATATGCAAAGCCCTGGGGTAGCAGAGCGCATGAGCCAAGTTGAGCCCTTTAAGGACCTTTTCCATGAGTTAAAAACTCAGATGCCTTCAGAGTCAGAAAGAAAACAGAAATAAAGGAAGCAGTGGGAGTAGAACAATAGGGAATGAGAGGGCCTGGGAGCAAACCAGAAAGAGCACATTGAACCTAAAAGAAAGAATATATAGTAGTCAGAAAAAAAAAAAAAACAAATATGGTCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGAGAGGATCATGAGGTCAAAAGATCGAGACCATCCTGGCGAACATGGTGAAACCCCATCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTCGCGACAGAGCGAGACTCCGTCTCCAAAAAAAAAAAAAGACTGAGGTTTATGGTGATCCATGCTTACAAGAAAAGAACACCTAGGAAGGATGTTTCTGACTGGTGAGAGGGAGACAGAGATGGCCAGGACCACAGGAGCTCAGAGAGCATGAGAGCACTGGGAGGAGGTGTCAGTGAAGACTTCCCTCAGTTGGTGGGGCTGACCAGGACTGGGCCTTCATGGAGGGGGGCATTTGGAAAAGTTGTAGGGAATTGGCCTCACAGGATTGGAAGATTGAGGCATGCCTTTGGTCTTCCTCTTCTCTGCTCCTAGCACATAGTAGGTGCTCAATAAACAGAGAAGGATGGGATGAATGGATGATGGGCTGAGAGATTTTCATCTTGAATAAGTAGGGAAAGCTTGGAAACATCTCTGGGGGCTCTTGGAGAAATTATCTGGTATTGTGGTAGCTCCCTGACCTAAATTTGACTCCCACCTCATCTTAATTTCTTGGTTTACTTCCTATATGAGTTTGAACAGGAAAATACCCACTCTGGGCCTTAGGTTTCTTCATCTGAGAACCGAGGAAAATAAAGCCTGTCTCAGAATGGTTGCAAGGACCAGAGAGAAAGGAGCTATTAGTTGTGCATTCCCTTCCTTCTTCCCAGTGCCATTGAAGAAAGACATCAAGCCCCAACTCCCACTTCTGCTTTCCCTTCCAGAGAAGAGAATCCCAATTACAATATCTTACTCTAAGTATAAAGAAGACCTGACAGAGGACAAGAAGATCCTGTTGGCTGCCATGTGCCTTGTCACCAAAGGAGAGAAGCTTCTGGTGGAGAAGGACATTACTCTAGAGGACTTCATCACCATCAAGGTGACCTCAGCCTGCATCTACCATGCTGTTCCTAGTGGCACCCACTCCCCAGAGCTGGGGGAGGGCGTCAGAAGCTGGGGGGGTTTGTGCCTTTAACTCCAGCTTTAGCTCTCCAGGGTGGGAGGAGTGGGTTGGACATAAGGGGATGGGTGCAATAGTGGCACTCAGCAATGGGGTATATGGAGGTGGGGGTGGACATGACTAATGATCCATCCTCTAACTCAGCCAGGACCATCGGTTTCCTGGAGGGAGGAGGGGTAGGCGCGATGGCTCATGGGTGTTGTCCCCTTCAGGTTCTGGGCCCAGCCATGGTGGGAGTGGCAGTTACAGTGGAAGTGACAGTAGTCAACCCCCTCATAGAGAGAGTGAAGGACTGTGCGCTGATGGTGGAGGGCAGCGGCCTTCTCCAGGAACAACAGCTCAGCATCGAGTAAGTGCCAGCCTGGGGGGCTGGCAGGGAATGGGGCTCTCTTCCTTGTGGATGAGCCAGAGAGAAGTTGCCAGGGATGGGGGTGTGAGAGAGATTCTGGACACCCCAGGAACCAGCCCACAGACTATACATATCAGCCTTCATTCACTTATTTATTCCTTCATTCATCCAATCATTCATTTACTCAAATCATATAACTCATTCACTCAGTCATTCACTCATATCATTCATTCATACTTTCATTTATTTATCCATTTATTCACTCACTTTCATTCATTTGCTCTCTTTCACTCATTCATTCATGCATTCTTCAATTTGCTTACTCTTTATTCACTCATTTGTTCATTTTTTCATTCACTTATTCCTACATTTATGCTTCACTCATTCATTCACACATGTTCCCATTTGTTCATGGATTCGTTTATTTACTTATTCATTGTCAATCATTCATTCACTCCTTCATTCTTCCATTCATCCACTTGCAACTCATGTGGTCCTTGATTATACTGACCTGTACTCTGGCCCATGTGTAATTGTTAGGAACACTAAGATGGACAGAAACAGTTTTGCCTGGAGAAGGGCTCTCAGATACAGATGGCCCTTCACATGAGGACAGTGTGATTTGTGAAAAAGATCTTGTCCAAGGTCTGGGGGAGCAAAAGCAGCCCTTAAGTGAGGGTGGGGCCAGGAAGAAGTCCCAGTGGAGCTGGTGTTTGAGCTGAGCCTTAAATGATGAATTGAGATTTTCAGGTATCAAGAAGTAAGGACGGTTTGCCAGGCAAAGGTCTTGGTGTCAACACCTGATGGCTGGTGTTGTCAGGGAAGGTCTCCTGGAAAAAGAGAACTTGATTTGGGCCTTGGGTGGATTGGAATAAGAAAGGCATCCTAGGTGGAACAGAGCAGATGAAAGCCCAGAGGGGGGAAGTTCAGGGCACAGACAGAAAACTAGCCTGGCTAGATGGGAAGAGTGTGGGTGGTAGAAGAGAAAATTAAATTGGAAATATGTTTTTTTGGTTGTTGTTTTTGTTTGTTTGTTTTTGAGACAGAGTCTCACTCTGTTGCCCCAGCTGGAGTGCAGTGGTGCAGTCTTGGCTCACTGCAACCTCTCCCTCCCAGGTTCAAGCGATTCTCCTGTCTCAGCTTCCTGAGTAGCTGGGATTACAGGTGTGCACCACTGCACCCGGCTAATTTTTGTATTTTAGTAGAGATGAGGTTTCACCACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGATGATCCACCTGCCTCAGCCTCCCAGTGTGCTGGGATTACAGGAGTGAGCCACCGCACCTGGCCTGCAAACATGTTGATAAGGCTTGAATGTCAAGCCACAAGGTGAACTTGATCCTGAGGAGCCTGGGGAGCCGTGGATTGGCAGGCCAGACTCAGAATGGCAAGAGGACTGACAGTCTGCCTTTCTCCCCTCCCCTTCCTCCAGCGTGCCTACCCTGGAGCCTCAGGAGAGGGCCTCAGTCCAGTTTGACATCACCCCCTCCAAAAGTGGCCCAAGGCAGCTGCAGGTGGACCTTGTAAGCCCTCACTTCCCGGACATCAAGGGCTTTGTGATCGTCCATGTGGCCACTGCCAAGTGATGGATCATGAGGGACTGAGAGGGGTGGATTTGGCCCCTGTCCTCCTCCTGCCCATTCTTTGTCTCTTCCACATGGGAGCCAGGAGGCCTCAGTTAATCCTGCCTCAACCTCTGCCCTACTTTGTAAACTTAGGCAAGTTCCTTCTCCTCCTGGGCCTCAGTTTACTCTTCTGTAAAATGAAGTGTTGCACTCAGTAATCCTTAAACTTTTGGACAACCATAGATGATGTAAGAACCGAGGGAGCCTCTCCAACCTTCATCTCTCATCCCCATGGCTGGGAGGTTGACAGACCCGAGCATCAGAGAAACCCTGGCCCACTCAGCTCTGCCATCTTCCACCCTGCCACCTCGCTGTCACCCTGGCTGACCCTTGGACTCTCCTTGCTTTTCAAATGCCCTGGCCACATCAAGAG	benign	310,737
A genetic variant at chromosome 20, position 2660567, affecting gene IDH3B (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Retinitis_pigmentosa_46']	GAACCTGTGGGGGAGAATCATCATCATCCATGTGGCCTGGGCTCCATCCTAACAATCCCCATCACCACCCAACAGTCTGTCCCCTAAGGAAGCCGGCCCAAGGACAACCTAGGCTCTACCCAGCAAGGTGACCATGGTCCACTGCTTAGAGGCACAAGGTCTCTTCCCTGGTACACTGCACTGAAGGGTATGGGGAGTGTGGTCCTTGCAAGGTTGGAAGAAATAAAGGGCTCTAGCTCCCTTTAGTCTGCAGGTGACCGATGACAGACTTGATGAAGTCGGTTGTGGTGCTGTAGCCGCCCATGTCTCGAGTCCGCACCTACAGCCACCACCGGCAACAGCCGTGGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGTGAAGCTGATGCTTCAGCCTGCCTGTATCCCTTGCTGTTCCACCCCCAAGGAGAGCTGCAAGTTCTGCATTCAGATGGCCCATGAAAAGGGCAGTGGATGGAGCAGGAAAGAGGGAACAGCAGATGGGATCTAAGAGGCAAAAGAGATCAAGAGGATGAAACAGCCAAGAGAAGGGAGATGAAGAACAGCCCTGAGAGGGATGCAGGGATGTCAGGGAGCAGATGTTCTGGGGACCTGGGGGGAAAGGAGACCCCCATTCAGGTTCCCCAGAGGGTAGTGCCGAGGTGCTGACACCAGAACTACTCTAAATCCTGAAGCCAGCACTACTCTTCTCAACTCACCTTGCCAACTTTGATCACCTTCTTCACCGCATCTGCGATCATGCTGGAGTGATACTCAAGACTGTGGATATGGACAGGAAGAAACTGTGACTCCCCCAAGACACCTCCCGCTAATTTCCCCACCTGCTCCTCCTCACGACACCCAACCTCTGCCGACAGCCTCCCATGACCTACTTAAGATGCCGCAGCATGTTGGAAGCCGACAGCAGCATGGCCGTGGGATTGGCTATATTCCTGCCCACTGCCTGGGCAAATGGGTGCCGGGCACCCTGTGGAGAGAGGGGCAGGCTAGACACTGGGAGGAGGCAGGAGGGGTATGCAGAGGCTTAGGTTGGAAAAGGACATTATGGGAGGGGGAGCTCAGGCCAGGGTCACTGAAAAGAGGCATGGTGGGCAGCGTGGGGGAAGAACAGGCCAAGATCACTTAGGAAGTGGAGATATTGGGATGGGAGAGGAATGGCGGACTTGAGGTCAGAGGAAGGGCCGAGGGAGAAAGCAGCCTCACCGTCTCAAAGACTGCGTATTCTGCACTATAGCTCTCACCAGGGACCACACCAGCTCCCCCAACCAGGCCAGCAGCCAGATTGTCAATAATGTTCCCATAGAGATTGGGCATCACAAGCACATCAAACTGGTAAGGATTCTGCACCAGCTAGAGGGTGAGATGCAGGCATGAAGTAAATTCCACTCCCCACCCTCCTCCTCCGCCCCATGAGTAGAGATGTGGGGAGGCCTCACCTGCATGCAGCAGTTGTCTATGATCATTGTCTCAAATTTGATTTTGGGGTACAGTTCAGCAACTTCCTCACAGCACTGCAGGAACAACCCATCCCCAAGTTTCCTGTCCATGGGCCAAAGGGGACAGAATCAGCCAAGAAAGTACAGGGGCTACCTTCCCAGGAACCCATCCTACACAAAGCCATGCCCCTCACATGATGTTGGCCTTGTGGACAGCAGTGACCTTGCCCCGCCCCTTCTTGGTGGCATAGTCAAAGGCGAACTTTGCAATCCGCTGAGACTTGGCTCGTGTGACAATCTTCAAACACTCAATCACACCCCTTGCACTCTGGGTAAGAAGAAAGCAGCAGCTAGGTGACACTGGGAAGGGAAACAAGGAGCTCCACCTCTCTCCCATCTTCATCCTTGCCCTCCCCCAGTTTCTGGGGCCTCACCTCATGTTCCAGAGAGCTGTACTCCCCTTCTGTCTGCTCTCGAATGATCACCAGGTCTAGATTGTTGTGCCGAGTCATATACCCAGGAAGTGACTTCACATGGACTACGTTGGCAAATAAGTCCAACTTACGCCTGAGGGTGGGCAGGGCCATCAGCTCTGCTCCTGGTGCCCTGGCACCTCTCAACCATTCACCCCACCCAGACCACCTACCTCAGCCGCATATCATAGGAGGCTAGCTCCCCCTTATACTCCATCGGGGTATGAATCTTTCCTGTGAAAACAAAGTGGGAAAAGGAGTGTCAGCCACAGGCCAAGCCCAAGGGAACTCAGACCAGTGTCTAACCCCCTTAGGAACATCATGTAACCCAGACTCCCATCTCCCATTCCCACATCAGTAAACTTTTAAATTGTCTCTGGGGGCAAGGGACAAAAGAGAATAATGTAGTTAAAGCCAGAAACATTTCATCTATTGCATTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGAGAGACACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGGCAGTGTCTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCCCGGCCTTAATGCTTTATTTTTAGTCAACATATTTAATTTATGTTGAAACTTCAAAACGGAGAACAGATTTTTTCTATTTATCAAAAAAGAGCCTGGGTTTAACAACAAGTTGAAAAACAATGCTAGCAGATCTGTGATCTTTTTATCTGTGCCTTCTCCTTATTTGACATTTTTTAACCCAACACCTACTGATGAATATCAATTATATGTCAGGCAATAAGGATAACAACTAAAACCATACAACTCCTGCCCTTGAGAAGCAAACGGTACACTGGGAAAGACAGAAAATATGAAAGACATGATAAGTACCATGGGAAACTTGCATAGCAACACAAAGAGGAAATCCTCTCCAGTAATATCAGGATACAGCACAGAAGAGCTGGCACTTCAGCCATGCCTTGAGCCCCAGAACCTATGTATGTGACCTTATTTGGGAAAAGAGGCTTTGCAGATGTAATTAAGTTAAGGATCTTGAGAAAAAATCGTCCCATCCAGGGCTAAATATTTGAGGAGAAAAATGATACCGAGACAGAGAGGGAAGAAAACCACAGATATTGGAGTGATGCATCTACAAGTCAAAAAACAGCAAGAGCCACCAGAAGAGGCAAGAAAGGTTTCTCCCCTAAACCTTCAGAGGGAGCAGGGCCCTGCCAACACCTTAATTTCAGACTGATGGCCTCCAGCACTGTGAGAGAATACATTTCTGTTAATGATAAGCCACCAGGTTCATGGTAGTGTGTTACGGCAGCTATGGGAAACTAATACAGTGAATGAGTGAGAAGGACTCTAACAGGTAGCACCAAAGAAAGAACGTTCTGGGTGGAGGGAACAATATAAGTCAGGTAGTACATATTTGGAATCTAACACACAATCTAGTGTGATTGAAGCACAGAACAAGAGTTGTGGAACCAAGGCAGAAAATTAAGGGCCAACTTATAAAGTACTGACTTTCCTATGGTAAGGCTGGGCCTGGAAAATCAGGCTGTTCTTTCCAAGAAGAGATATGGAAGATGAACTATAGGGGCAGAACTAGAAGCCAAAAAAATCAAATGAGGAGATTAAAGCGCGGAAGACAAAAGAAAAGGGGCAGCTAGGCACGGTGGCTCACGCCTATAATCGCAGCAGTTTGGGATGCAGAGGTGGGTGGATCACTTGAGGTCAAGAGT	GAACCTGTGGGGGAGAATCATCATCATCCATGTGGCCTGGGCTCCATCCTAACAATCCCCATCACCACCCAACAGTCTGTCCCCTAAGGAAGCCGGCCCAAGGACAACCTAGGCTCTACCCAGCAAGGTGACCATGGTCCACTGCTTAGAGGCACAAGGTCTCTTCCCTGGTACACTGCACTGAAGGGTATGGGGAGTGTGGTCCTTGCAAGGTTGGAAGAAATAAAGGGCTCTAGCTCCCTTTAGTCTGCAGGTGACCGATGACAGACTTGATGAAGTCGGTTGTGGTGCTGTAGCCGCCCATGTCTCGAGTCCGCACCTACAGCCACCACCGGCAACAGCCGTGGGGAGGGAGAAAAGAGAGCCCATGAAGGGAGGTAGGGCAATGTGATTGAGGAAATGGAAGCCAAGAATGCGTGACAGCCAGAAAAAAGGCAATGCACAGGAATGGAAGGAGGAGCCAGGATGGGAAGCACATGGACCTGCCACTCCTCTTAAGCCACTATTAGCTGTGCTGCAGCCAGGGCAGGACAGGAGGCTGAGCAGGCAAAGATGATGGGAAACGCAGATCAGAGGCAGGATGTGGCTACCTTCCTTGGAAGAAATAGAGACAAGACCAGGTGGAAGGAAAGAATCACAGCGAAAAGGAGATGGGGCGTGAAGGTGAAGCTGATGCTTCAGCCTGCCTGTATCCCTTGCTGTTCCACCCCCAAGGAGAGCTGCAAGTTCTGCATTCAGATGGCCCATGAAAAGGGCAGTGGATGGAGCAGGAAAGAGGGAACAGCAGATGGGATCTAAGAGGCAAAAGAGATCAAGAGGATGAAACAGCCAAGAGAAGGGAGATGAAGAACAGCCCTGAGAGGGATGCAGGGATGTCAGGGAGCAGATGTTCTGGGGACCTGGGGGGAAAGGAGACCCCCATTCAGGTTCCCCAGAGGGTAGTGCCGAGGTGCTGACACCAGAACTACTCTAAATCCTGAAGCCAGCACTACTCTTCTCAACTCACCTTGCCAACTTTGATCACCTTCTTCACCGCATCTGCGATCATGCTGGAGTGATACTCAAGACTGTGGATATGGACAGGAAGAAACTGTGACTCCCCCAAGACACCTCCCGCTAATTTCCCCACCTGCTCCTCCTCACGACACCCAACCTCTGCCGACAGCCTCCCATGACCTACTTAAGATGCCGCAGCATGTTGGAAGCCGACAGCAGCATGGCCGTGGGATTGGCTATATTCCTGCCCACTGCCTGGGCAAATGGGTGCCGGGCACCCTGTGGAGAGAGGGGCAGGCTAGACACTGGGAGGAGGCAGGAGGGGTATGCAGAGGCTTAGGTTGGAAAAGGACATTATGGGAGGGGGAGCTCAGGCCAGGGTCACTGAAAAGAGGCATGGTGGGCAGCGTGGGGGAAGAACAGGCCAAGATCACTTAGGAAGTGGAGATATTGGGATGGGAGAGGAATGGCGGACTTGAGGTCAGAGGAAGGGCCGAGGGAGAAAGCAGCCTCACCGTCTCAAAGACTGCGTATTCTGCACTATAGCTCTCACCAGGGACCACACCAGCTCCCCCAACCAGGCCAGCAGCCAGATTGTCAATAATGTTCCCATAGAGATTGGGCATCACAAGCACATCAAACTGGTAAGGATTCTGCACCAGCTAGAGGGTGAGATGCAGGCATGAAGTAAATTCCACTCCCCACCCTCCTCCTCCGCCCCATGAGTAGAGATGTGGGGAGGCCTCACCTGCATGCAGCAGTTGTCTATGATCATTGTCTCAAATTTGATTTTGGGGTACAGTTCAGCAACTTCCTCACAGCACTGCAGGAACAACCCATCCCCAAGTTTCCTGTCCATGGGCCAAAGGGGACAGAATCAGCCAAGAAAGTACAGGGGCTACCTTCCCAGGAACCCATCCTACACAAAGCCATGCCCCTCACATGATGTTGGCCTTGTGGACAGCAGTGACCTTGCCCCGCCCCTTCTTGGTGGCATAGTCAAAGGCGAACTTTGCAATCCGCTGAGACTTGGCTCGTGTGACAATCTTCAAACAATCACACCCCTTGCACTCTGGGTAAGAAGAAAGCAGCAGCTAGGTGACACTGGGAAGGGAAACAAGGAGCTCCACCTCTCTCCCATCTTCATCCTTGCCCTCCCCCAGTTTCTGGGGCCTCACCTCATGTTCCAGAGAGCTGTACTCCCCTTCTGTCTGCTCTCGAATGATCACCAGGTCTAGATTGTTGTGCCGAGTCATATACCCAGGAAGTGACTTCACATGGACTACGTTGGCAAATAAGTCCAACTTACGCCTGAGGGTGGGCAGGGCCATCAGCTCTGCTCCTGGTGCCCTGGCACCTCTCAACCATTCACCCCACCCAGACCACCTACCTCAGCCGCATATCATAGGAGGCTAGCTCCCCCTTATACTCCATCGGGGTATGAATCTTTCCTGTGAAAACAAAGTGGGAAAAGGAGTGTCAGCCACAGGCCAAGCCCAAGGGAACTCAGACCAGTGTCTAACCCCCTTAGGAACATCATGTAACCCAGACTCCCATCTCCCATTCCCACATCAGTAAACTTTTAAATTGTCTCTGGGGGCAAGGGACAAAAGAGAATAATGTAGTTAAAGCCAGAAACATTTCATCTATTGCATTTTCTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGTGTGAGAGACACAGGGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGACCTGGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGGCAGTGTCTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCCCCGGCCTTAATGCTTTATTTTTAGTCAACATATTTAATTTATGTTGAAACTTCAAAACGGAGAACAGATTTTTTCTATTTATCAAAAAAGAGCCTGGGTTTAACAACAAGTTGAAAAACAATGCTAGCAGATCTGTGATCTTTTTATCTGTGCCTTCTCCTTATTTGACATTTTTTAACCCAACACCTACTGATGAATATCAATTATATGTCAGGCAATAAGGATAACAACTAAAACCATACAACTCCTGCCCTTGAGAAGCAAACGGTACACTGGGAAAGACAGAAAATATGAAAGACATGATAAGTACCATGGGAAACTTGCATAGCAACACAAAGAGGAAATCCTCTCCAGTAATATCAGGATACAGCACAGAAGAGCTGGCACTTCAGCCATGCCTTGAGCCCCAGAACCTATGTATGTGACCTTATTTGGGAAAAGAGGCTTTGCAGATGTAATTAAGTTAAGGATCTTGAGAAAAAATCGTCCCATCCAGGGCTAAATATTTGAGGAGAAAAATGATACCGAGACAGAGAGGGAAGAAAACCACAGATATTGGAGTGATGCATCTACAAGTCAAAAAACAGCAAGAGCCACCAGAAGAGGCAAGAAAGGTTTCTCCCCTAAACCTTCAGAGGGAGCAGGGCCCTGCCAACACCTTAATTTCAGACTGATGGCCTCCAGCACTGTGAGAGAATACATTTCTGTTAATGATAAGCCACCAGGTTCATGGTAGTGTGTTACGGCAGCTATGGGAAACTAATACAGTGAATGAGTGAGAAGGACTCTAACAGGTAGCACCAAAGAAAGAACGTTCTGGGTGGAGGGAACAATATAAGTCAGGTAGTACATATTTGGAATCTAACACACAATCTAGTGTGATTGAAGCACAGAACAAGAGTTGTGGAACCAAGGCAGAAAATTAAGGGCCAACTTATAAAGTACTGACTTTCCTATGGTAAGGCTGGGCCTGGAAAATCAGGCTGTTCTTTCCAAGAAGAGATATGGAAGATGAACTATAGGGGCAGAACTAGAAGCCAAAAAAATCAAATGAGGAGATTAAAGCGCGGAAGACAAAAGAAAAGGGGCAGCTAGGCACGGTGGCTCACGCCTATAATCGCAGCAGTTTGGGATGCAGAGGTGGGTGGATCACTTGAGGTCAAGAGTNNNN	pathogenic	310,791
Determine if the mutation at chromosome 20, position 3218578 in gene ITPA (inosine triphosphatase) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Developmental_and_epileptic_encephalopathy,_35', 'Hypodontia', 'Inosine_triphosphatase_deficiency']	TACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATA	TACAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTAC	pathogenic	310,862
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 3218622, gene ITPA: what disease(s) if pathogenic?	pathogenic; ['Inborn_genetic_diseases', 'Inosine_triphosphatase_deficiency']	CTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCC	CTCCCTAGTAGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCN	pathogenic	310,864
Clinical classification of chromosome 20, position 3218631, gene ITPA: benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Developmental_and_epileptic_encephalopathy,_35', 'Inosine_triphosphatase_deficiency']	AGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCTTCCGAGTA	AGCTGGGATTACAGGCACCTGCCACCATGACCAGCTAATTTTTTGTATTTTTTGTAGAGGGGTTTCACTATATTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGCGATCCACCCATCGCAGCCTCCCAAAGTGCTGGGTTTACAGGCGTGATCCACTGAGCCCGGCTTAATTTTTGTATTTTTAGTAGACACGGAGTTTCGCCATGTTGGCCAGGCTAGTTTCAAACACCTGACCTCAGGTGGTCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACCACTCCCAGCCTATTTTATTTTTTTGAGACAGAACCTCACTCCATCGCCCAGGCTAGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGTGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCTAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCACGTTGGCCATGCTGATCTCGAATTCCTAACCTCAGGTGATCCACCCACCTCGGCCTTCCAAAATGCTGAGATTACAGGCATGAGTTACCGCACCCATCCTTATGTGCTTTTAAAAACACTTTACATTATAGAGCATTTCAAACCTGCATAGTAGAATATCATAATAGGATAATGGGCATAAATATATACAGTTATTATTTGTCAATTAAAAAAAGCATAGTAGAATAATGAACCTCAGTTGCCATCAACCAGCTTCCAGGGTTATCAGCACGAGGCCTATTTTGTGACATCTGTAACCCCCCTTATTTTTCCTCAGTCCAGTATTTTAAGGCAAATCACAGACATCATATCATCAGTAAGTTCTTCAGCTTGTATTTATTTTTATTTTTATTTGTTTTAATTTTTTTTGGAGACAAGGGTCTCCCTGTGTTGCCCAGGCTGGAGTGCAGTGGCTCAATCTCGGCTCACTGCCCACCATCAGGGCTCAAGCCATCCTCCCACCTTAGCCTCCTGAGGAGCTGGGACTACAGGTGTAAGCCACCATGCCTAGCTAATTTTTGTGTTTTTTGTAGAGGTGAGGTCTTGCTATGTTGCTGGGGCTGATATCAAACTCCTGAGCTCAAGCAACCCACCCGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGTATGAGCCACCGAGTGCAGCCACTGTATTTCTAAAAGGTGAAAAATTTAAAAACTGTTAAACAAGTAAACTATAATCATTTTAAAATACTACATAATCATTTTTTGGATTTCCTTGGTTGTAGAAAAAGTGCCTATTACAGTTGGTTAGTTTTTGTGGGTTTTTTTTTGTTTTTGTTTTTTCTTTCCTGAGATGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCCCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTTGTTCACACCATTCTCCTGCCTCAGCCTCCCGAGCAGCTGGAGCTACAGGCATCAGCCACCACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATAATCTGCCCGACCCGGCCTCCCAAAGTGCTGGGATTACTGGCATGAGCCACCACGCCCGGCCTACAGTTGGTTAGTTTTGAATCAGGAAATCAAACAAGGTCCACACTGCATTGGCTAGTTTTCTGACTTTAAATAAAGCCTTGTATCGTCAGCCTGTGCCAGAGGGAAGCGAGAATGCCCAGAGACTTCCATTTCAAGCCTAGTCCCACTGCCTTGGGCTCTGCCGCCCCCGCTACCCCAATTGAGACCTAATTTCCCCTTTTAGGGAATTCCTCCCTCCCCACCCTTAGTGGGCGTCTTGGGAGTGGGGGTGGGAGTTGGCCATTAGGGATGCACTGAGCCCTCACTGCCCACCCGCAGGTCTCCACCAGCTCCTGGCCGGGTTCGAGGACAAGTCAGCCTATGCGCTCTGCACGTTTGCACTCAGCACCGGGGACCCAAGCCAGCCCGTGCGCCTGTTCAGGGGCCGGACCTCGTGCGTACCCACCTTGATGCAGTTCCCGCCGCGCGCCGCCAGGGGGTGCCGCGACCCGAGCCGACCGCCCCGAGTCTGCGGGAGGGTGGTGGGAGGGGCGCCTTGGGGCCAGAGATATCTGTGCCTTGCTGAGAGGCTCCCCTGCGCAGCATAGGTAGAAGTGCTGTGGATCCTAGGAGGGTGGTGGAAAGGGTTCCCTGGGGCCAGAGTAGTTGCCTACGCCTTGCTGAGGGGTGCCCCTGGGCAGGACAATGGAAGTGTTGTCAATTCTGAAACCTGTTTGACCCCTGAGGCTGTTGTTTCAGGGAAACAGTTGGCTAACAGCTCCTGAGGCCTGATAGACCCAGAAGTGCAAACTGAAGGTGACAATTCCCAAAGCTATTTTTTTCTGTTTATTTTATTTATTTATTTATTTTTTGTTAGTGAGAAACCACACTTGGATCAAAGCTACATCTATAGCCCAGACTTCTCTAACCTCAGATTTCCTTATTCAACTGCCAAGGTGCTTGACTATCTCTCAGCCTTTCCAGCTTTTCATGTTTATGTATAATAGAATCTTAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAAAGTCTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGTGTCGTCTCGGCTCACTGCAACCTCCGCCTCCAGGGTTCAAGCATAGAATGTTAATTCTTGGCCAGGTTTGGTGATTTACACCTGTAATCCTAGCACTTTGCGAGGCCCCAGCGGGAGGCTTTCTTGAGCCCAGGTGTTCAAGATCAGCCTGGACACCATAACAAGACCCCATCTTTGCAAAAAATTTTAAAATGAGGCCGGGCGTGATGGCTCACATCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCAAGAACAGCCTGGATAACACAGCAAAACCCCGTCTCAACTAAAAATACAAAAAATATCTGGGCATGGTGGCAGGCACCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATCTCGCCACTGCACTCCAGCCTGGGCAACAAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAGAGGCTGAGCACAGAGGCTCACACATGTAATCCCAGCACTTTGTGAAGCAAAGGCAGGAGGATTGCTTGAGGCCAGGAGTTTGAGACCAGCCTGGGTAACATAGCCAGACCCTGTCTCAAAAATAAATAAATAGCCGGACATGGTGGTGCACACCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCACCTGAGCCTCGGAGTTTGACGGGACAGTGAGCTATGATCGCACTCCTGCACTCCAGCCATGGAGTGACGGAGTGAGACCCAGTCTCAAAAAAAAAAAAAAAAAAACAAACCTTAATTATTTGCCCAAACTTATTCCTTCCGTGAGATGTATTCAACACCCCCTACTGCCTATCACTGCTCACGACAGCCTCCACCTCCCAGGCTCAGGTGATCTCCCACCCTGGAGAGTAACTGGGACTACAGGCGTGCACCACCACACCCGGCTAATTTTTGTATTTTTGGTAGAGACAGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCCGACCTTAAGTGATCCGCTGGCCTCATTCTCCCAAAGTGCAACCTCCATCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTGCCGAGTAGCTGGGATTATAGGCGTGAGCAAAAAACATTTGTTGCGTGGTTGAGGTTCAGTAACTGGCCTTAGTCACGCAGCTCCTCACGGCAGAAGCAGAATTTGCCTTTGGGTCTAAATTACTTGGCATCTATGTGACTAATCCCAATCATGTACCACCTCCGTTGTATTTTTTAAAGAGTAAAAAAAAATGTTTTTGAGACAGGGTCTTGCTTTGTCACCCAGGCTGGAGTGTAGTGGCATGACTACCGTTCATAGCAGCCTTGATCTCTCAGGCTCAAGTCATCCTCCCACCTCAGCCTTCCGAGTAN	pathogenic	310,865
Mutation found at chromosome 20 position 3228592, gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']	GGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGAC	GGGGTCTGAGCACCTCTCGCTACTCCTGTTACGGTTGGGCCTCCTTCTTCCCCTGTTCACGGCCTCTGCCTCTTCTGTTGGGGCTGCTGTCCTTTGCTGGTTTGCAGGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACNN	pathogenic	310,889
Clinically, how would you classify the variant at chromosome 20, position 3228698, gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']	GGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGC	GGAATTCTTTGCATATTTCAGATATATTTTCAGTTTTAGATGCAGCCAATCTCTTCTGTCGGCCAACTTAGTCCATGGGGCATGTGTCAAGCCAGTCCAGGAGGTGATGTGAGCCCCAGGTGTTCCTGCTGACCACTGATGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCNNNNNNNNNNNNNNNNNNNNN	pathogenic	310,893
Is the genetic change at chromosome 20, position 3228837, within gene SLC4A11 (solute carrier family 4 member 11) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']	TGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAG	TGCTGCGCACCCGGCACTCCCCTGAGCCTCAGAGCCATATTCCCTGTTGTCGGCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCG	pathogenic	310,896
Located at chromosome 20 position 3228889, the variant affecting gene SLC4A11 (solute carrier family 4 member 11)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']	GCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGAT	GCTGCCATTGGGAGACCCTGACCCACCAACAAATGAGCAAGCCAGAAACACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATN	pathogenic	310,899
Is the genetic variant on chromosome 20, position 3228937, gene SLC4A11 (solute carrier family 4 member 11), benign or pathogenic? If pathogenic, what disease(s) is indicated?	pathogenic; ['SLC4A11-related_disorder']	CACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAAACAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGG	CACTGCACCTTCTCCCTCCGTCAAACCATTCCCACCCCGTGTCCTGCCGTCGGCAGTCCTCCCACCTCCCTCCATCGCCACCAGTGCTGCCCCTGCCCTGTAAAATCCAGGATCCGCACAACAGATGGGATGGTTCACAAGTGCTCCACACGAAGCCTCGGCCTCCCGGCAGGCAGCTTTCATCTGAGAGTCACAGGGCCCTTTGCTGTCACCCTGATGGTCCCTCCCGCCCCACTGCTCTTCACCAGCCACAGCGCCTCAGTGGCCCCAAGCCCTCGCTCCTCTGGACCCTTGCACATGCTGTTCCCAGAACGCTTTCCCTGCAGGTCCCTGGAGAAATGGCCATGCGAAGGCCTCCTGGATCTTCCATGTTTCACTGTTGGGCCAGCACCCACTGTGCGACGTTGGAGGTGACAGACCACAGGTGGCACTCCACAAACTCTGTCCCTTGCATTCCACTTCCCCAGGGAGGGCTTCCCCTCCCCAGAGTGGGGGTGGAGTGGCAGTAGCAGGGACACAGGTGGCACATAGGAGCCTAGAAACAGGAGCTTTATTCTCTAATGTGCGTCCAGCAAGTTCCTTACACAATCAAGGAAATGGTTTCTCTTTCAGGCATCGACTCTTTTATCAAAAGAAAATCCATCCTGCTCAGTCCCACCCACCCTGGGCAGAAGCTGCCCTGAGCAACGCTCTTGGCCTAAAGCTAAAGGATAATGGGAGAGGGGTGGGCACATACCACTGCACCCCTACAATGCCCAGATGCCCCAGGCCTGAGTCAGCCATGAGAAGGCGCAGCACAGAGCAGTCACCCACACACCTACACCTCCCCTCACAGCTCCAGAGCCAGCCTGGGAGGACGTGGAGGGCTGGCGAATGGGGCGTGGGCAGGGTCTGCCAGTCAAGGCCTGTGCTCAGCGTCCATGACATCCAAGTACTTGGCTTCAATGATTCGGGGCAGCAGGATATAGCTGTGGGGAGGGAGGGACAGGAGGATGAGCCTGGGTCAGAGAGAAGGCAGTGGACACCCATCCCAGCCCACCCCAGCCCACCCACAGGGCCAGGCTAGGCCTCTCCTCCCCGCCCGCCTACCCCCAGCCCACCCACTCTCCACTCCTAGACTGGAGCCCCTCCTGCCCACCACCCACCCCAGCCCGCCCACTCTCCACCTCTAGGCTGGGCTCCTCCTGCCCGCCAGCCTCCCCAGCCCGCCCACTCTCCACCCCTAGGCAGGACCCCTCCTCCTGGGCACCCACCCCAACCCGCCCATTCTCCGCCCCTAGGTGGGACCCCTCCTCCCAGCCGCTGCCCCAGCCCGCCCATTCTCCACACCTAGACTGGGCCCCTCCTGCCCACTGCCCACCCGCCTGTACCGGATGGGGATCATGGCGATCATGATGAGGGGAAAGATCATCTTCATGTAGGGCAGGGAGCTCATGCCGAAGGCACACAGCAGCAGCAGCTGAAGCACCTGCAGGCCCGTGAAGTAGTGGATCTTCCTCTGGGGCACCCTCCGGATGTAGTGTGTCGGGGGGTACGCAGTCTGTGGGCGGCAGGGACCGGGTGTGGGCAGGCATGGGGCTGTGTCCCCACCCACGCCACTCCCTCGCAGGGCCAAGCGCTCACCTGCTCCTTGAGCAGCAGGGCCACGCGCTGGACGAGCTGGTTGCCATCGAGGGAGGTGAGCGCGATGTAGAGGAAGAGGCCATAGAGCACGGGCTTGGGGATCCACTGAAGCGGGACCGGCAGCAGCAACAGGGACAGGCCCACCAGGACGCTGGCGCCCAGCGAGGTCAGCCGCGTCTCCTTCACGTTCACAATCCTGCGGTGGCCCGAGCCGCGAGTGTCACCTCTGCGCCCCTGTCCACAGGGCCTCACTCCTCCCTATGTCCCATGTGGCCAGAGGCTCCCCACTCCTCAGGGTCCACGGCTCTTGCCAGCCTCACACTCACGTGTCATAGATGTGTCCGTTCTCCACACGCTCCTCCACTAAGGCCAGGGCTCGCACGTGCAGCGGGGAGTGGGGGTAGGCGGCATGGATCCAAGGCAGCCCAGAGACAGCCCTGTGTTGATGATGGCGAGGAGCAGGAGGTCCCAGTGGTAGGCAGTGCCCTTCACCAGCCTGCAGCAGACGGGCACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGNNNN	pathogenic	310,901
A mutation at chromosome position 3231075 on chromosome 20 in gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	benign	ACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATC	ACTCGTGGACAGAGCCCCACAGCAGAGGCCCGGGCCCCGCCCACCCCACCCTCACCCACCCTCCACACCTGTTCTCCGGTGCATTCACCAAGGCGGCCACCAAGTTCTGCTCGATGAAGAAGAGCATGGACAGCAGGAAGCCGAGGCCCATGGCACCGCTGACGGCCCTCAGGGACAGCGACTGGATCTGCGCCATCGCAAAGGGGCTCTCGCTGGGGTTGTAGCGGAACTTGCTCACTGCAGTAGGGGACAGGCTACTGCTATGCCTGCAGCGCCTGGGGAGCTACCCCACGTCACCCACCGCCCGGCCCCAACTCACTCTCGATTTCCCGGAAGCCATGGGAGCTGATGAGGGAGAAGGCGAGCACCGCGATGGGCAGGGCGCAGTCGGACAGGATCTCTCGCACGCAGGGGTGCAGGTAGGGGCTGGGGACAGCAGGTGCATGAGCACAGCCTTTGACCCATGCGGCCCCTCCCCTCCCCATGCAGCCCCTCACCTCTTCTTGAATTGGTAGAGGGTGTAGCCCAGCCAGAGCGTGCCCAGCATGATGAGGAGGCTGAGCACGGCGGTCGCCTGGCCTGAGTGTGTGGCCGAGGGCAGCTCCGTGGGGCTGGCGAGGAAGCTGGCGTTGAGGGCAGTGTGGAGGCTGGCGTTGAGGCTGGCGCCGAGGCCTGACAGGCTGACAAGGGATGAAGTCCTTTTTGTGTGATAGTCGTCCAAGTAATGCCCATAGTAGTACTTCCAGAAGACTGTGGACACACACCCACAGGCCTCAGCCCTCTCCAGCGTGTGGCAGGGGGAGGCCCTGGAGGGAGGGGATCTCAGGGAGAAAGGGCTCCAGGGGGAAGGTGAGGGGACCCTGCCGACGTGCCCATGCACCCACACTCCTGCCCACTGTCCCTGTCCCATCTCTGACACCCCATCACAGTCGGCCCAGTGCCTCTGCCCCCACGGCTGGTCCCACCTGGGGCGGCCCCGTCACCCTCCAGCGTGGAGGGCTCTGCCCTCTGCCAGCCCAAGGCTCCCAGAGCACCGCACCCTTGATCACGGGCACACACTCAGCTTGAGCCAGTCCTATGTGCCCCCAGCCAGGGGCAGTGCAGAACCTCCCATCTCGGCTGAGCGCCCTGTTCAGCAGGTGGCCCCCAGCCGCACTCACTTTTAACCGTGCCCTTGACGGCATCCAGCACAAACGTGATGGAAATGAAGAGGGCGATGATCTCCTCCGTCGACCTGCCAGGAGGCCATGAGCCTCATCAGAGTGGGTGTGGTCAGGGGGCAGGTGGGGGAGGCCTCCCTGAGCCCCTGCACAGTCCCCTGCCTCCCCCTGCCAGGAAGAAGGCCAGGGCCCCAGGCCTTGCCTGAGCCCACCCCAGCCCCTTGGGGCAGCAATATGGTGGGGGCACCCCCACCACCCTGGGGTTACAGGGGGCTGAACCAGATCCCAAGCCTTGAGGGTCCCAGCAGCTCACGGAAGGGCCAGTCACCTCTTGAAGAGACTCATGACCAGGCTGAGGTTGAAAAAGGCATAAAGCGCAAGGAAGAAACTATTCCACAGGCCCGTCCATGCGTAGAAGGAGTTGAAGTCCAGGTCATAGTCATCACAGATGACACGAATCACTGCAGGCAGGGGGCAGGGCGGGTCAGGGCCCGGCAGGAACCAGGGGTCTCAGGCACCATCTCCCGCCTCAGCCCCCACTGCACCCTGGATGTAGAGCGCCAGGGGCGCGGTGGTCAGCAGAATCACCAATGGCTGCCCAGAGAAGAGCGCGTAGAGCAGGCCCCCGATGCTCTGCCCGGCTATGGTCTTCTGCACGTCTGTGGGGGTGCGGAGGTCAGGTGGGCGCCGCAGCCCAGGGCCCAGCCCAGCATACCCCCACCCACCGCCCACCGCCAGCCCCTCACCGATGGCCCCGTCTGTGTTCTCGTCATTGAGAGACCCGAAAGCGATGGTGGGCAGGAGGCAGGCGAAGTAGAGGAACAGGGTGGTGGTGATGTATTTGCCCACAGCCTTGTTTTTCCCAATAATGCCTAGGAATGGGGGATGGGAGAGGGTTTGCTGGGGATGCAGGACAGGCACACGTGTGGGCCCAAGGCCTGGAAAGCAGAGGCCACGTACCATCAGTGAAGTCCAAGGGGTACAAGGGGAACCTGCGTGCGATGTCCTCCCGGATGCCCTTCCCAAAAGGGACAAAGTCCTTGCACTTTGGGGGCTGGAGGAGAGGACAGAGCGCCTGTTAGCCCTGTCCGGCCCATGCCCCCGCCGACCCTGCCGGCCCCCGCCGGCCTCTACCCTGTACCTCTGGGTGTCTGTGGGCAGGGAGGGAGACTGTGCTGCGTTCCTTCGTTCTCGGCGCCACTGGACCGTGGCTCACCATGGTGAGCAGCTGTCTCTGATGCACCAAGGCCTCCTTGAATTCCTCCTCTGTGCGGGTCTCCAGGAGCTTCTGGCGGAAGGCGATATCCGAGAACATGGTGGCAAACGTGCGCGCCACCTCCATCGCAGTCTTAGTGCTTTTCTAGGGGTGGAGGATGGGAGTCACCCCTAGAAACAGAGGAGGCCCTGCCCGGGCCGAGCAGGTGAAGGTGCTCTCCCCATGAACTGGCAGCAGGTTTTTTGTCTGTTTGTTTTTTGTGTTTTTTTGAGACAGGGTCTCACTGTCACCCAGGCTGAGTGCAGTGGCACACTCACGGCTTATCGTAGCCTCGACCTCCCGGGCTCAAGTGATTCTCCCACATCAGTCCCCTGAGTAGCTGGGACCACAGGCACGCACCACCATGCCAGGCAATTTTTAATTTTTAACTTTTTGTAGAGACGAGGTCTCACTATGTTGACCAGGCTGGTCTCAAACTCCTGGCCTCAAGCAATCCATCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCNN	benign	310,921
Does the genetic variant at chromosome 20, position 3233950, impacting gene SLC4A11 (solute carrier family 4 member 11), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic; ['Corneal_dystrophy-perceptive_deafness_syndrome']	TCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCC	TCTGTCTAGGCCTCCCAAAGTGCTGGGATTACAGGCACGAGCCACTGTGCCCAGATGCTGGTAGCAGGTTTTATTCCACAAAGTTCAGGCATTAGTGTACTCTGCCATGATTTCAACCAGGTCAGCAGATCACCGCAACTACCATCGATCTATATTTTTGTTATAAACTCATGATTTCTTATAAACTCAAGATATTACTTTTGTCCTAAGCAACAAAAGTCTGTGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCCCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCN	pathogenic	310,932
The mutation in gene SLC4A11 (solute carrier family 4 member 11) at chromosome 20, position 3234173—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']	TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAA	TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTG	pathogenic	310,933
Clinically, how would you classify the variant at chromosome 20, position 3234173, gene SLC4A11 (solute carrier family 4 member 11): benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy,_Fuchs_endothelial,_4', 'Corneal_dystrophy-perceptive_deafness_syndrome']	TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAA	TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCGGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAANNNNNNNN	pathogenic	310,934
Does the variant on chromosome 20 at location 3234173 affecting gene SLC4A11 (solute carrier family 4 member 11) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Congenital_hereditary_endothelial_dystrophy_of_cornea', 'Corneal_dystrophy-perceptive_deafness_syndrome']	TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAA	TGTGATCACAGATAATGAAACCACAGTGGAGAAAAATGTTTCCCCAGCTACGTTTCCCCAGTGGTATTTGCACTGTCTGCTGGTTTGACTTTCAGAGAGGGTCCAAGCCCGTCAGGCACTCTCTCTCTCGCCCGGCCAAGGTGAAGCCCGTCCGTGAACCATGAACTCACGAACTCAGTGTCCAGCCCTCATCACAGCAACCTGCTCACCTAGGGGCAGTGTCTGCCCGTCTGTTGCTCAAAGCTCTAGTCCCGGGGCACTGTGCATGTTTGCTGTAGAAGAGGCCCGTGCCTGGCAGGGCATGGTGGCTCACGCCCATAATACCAACTTTTTTGGGAGGCTAAGGCAGGCAGATCACTTGAGGTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATAATTAGCTGGCTGTAGTTTTTGGTGGTGGCGGGTGCCTGTAGTCACAGCTACTTGGGAGGCTGAGGCGGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCTGAGATCACACCTCAACATTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAGATAAATAAATAAAACAAACAAATAAACAAATACAAAACCCCAAAAGAACTAGTCCATGCTCCTGAGGAGGAGCCCAGTGTCGGGCTGGGGGATCTGCCTCAAGGCACCAGGCTTTAACTCAGCTCTGGGCTATTGCTCCTTCTGTGTGGGCACCCTGCTGGGGGCCACTCCTTCCAACCCAGGGGCTGCCCTTCCTCTCACACCAGCACAGTTGCATTTGTGGAGGTTCCCGCCATGTCTGAGATCCCTGAGAACCCCATTTGCACACAGAAGGCCAGGGGCAGGAGCACAAGAAGCTAAGGGAAGCTGAAGCTGAAGGCGCTGCCAAGGCCTTGGGAGGGGTCCTGGCAATCATCTGTTGAGACTTGTTAAATCCTTTTCCTTAAAAGACTCCCGAAATTGTATCAGTTCCGGCTCCCACAAAAAGCATGGTGTCCCGGCCAGGGGGTGTGTGGCCCAGGAAGGAGCAGGGACCCTCAGCTAGCAAATCGCAAAGTCAACCAAGTCAAAGAAGGGCTGGCGGGCGGGCAGGCCAGAGAAGGCCGCGTGTTTGAATAGGGATAGTGGTCAAAAGCGTTTCCTTTCAGTCAAGGAAATACGAACTTTTCGGCAATCCCCGGGGACATGAGGACTTGCCGGGCCTAGCAACATGTTTCTGACACACCCACAGGGCCGAGGCGAAGGGGAGGGTGAGGACCAGGCCTTCAGAGGCCAGGACATGTGGGAGGGGACCCCAAGCAGAGGGCGGGTAACCCGGGGCCCTCCTTCTTCCCCAGGACACGGCACTACCCACTCACCATCTTGGGTGGGGCCAGCACCAGGATGACGAACCGAACCTCACAGGAATTCTCCCCCCAGTTCTGTGGGCGAACCAGGCGGCTGATGCACACGTGCCGCTTCTGTAGGGCCTTCATGGTACAGCTGGCAGGGGCGGGGAGGACACAGTGCACAGTTGCACCCCAGGGAGCTGGGGCTCCCCGACCCAGAACCCCCTCGACCTTGACCCCTGGCGACCTCTGCTAGGGAGGGAAAAGAAGAGCAAATGGGACGTTCCTTGGCAGTGCTCCAGCCCTCTTCTCCCAAGTTGGTTGGGCCGCCAGAGCCCCAGGACTCACAGGTGGGCTGGCCTCTGCAGGGCACAGGGGACATGGGACACCCAGTTCCACTGCGACAAGAAGGGGGGCCAAGTGGCCTGGCAACTCACATGATGCAGAGCCACGACTGCTGGTACCGCACCCCTGTCACTGTGGCGGTGACCCCTTGGATGGTATCTGACAGCAGGTGGACTGAGGAAAGAGTGAGGGGGAGGGTGGTGGGTCAACAGCCCCTCCCAACGCCCCCGCCCGGGCCGGGAGACCGGCCTCACCTTTACCCCGCATGGGTGCCCCGGCATCGGTGAAGAGCATGGCCATGAGCAGGTCCAGGTTGCAGTTGGGCTCATTGTTGTCAGGGTCCCTGGCGAAGCATGGTCCGCAGCACGTTATCCAGGGAGGTGGCCGTCTCGTTCAGGACGATGCTGGCCTGCGCCAGGAAGCCATCTAGGTCGCGGTGCGCACGGATCTCTTCCTTGAAGTTCTTTAACTTCAGGTACTGAGGGGACCCCAGGGACAGAACCACACGGGCCCATGTATGAGATGCTGTCACTGCCTGGTCCCTCCCTCCCAGCCAGCCGCAGCAGTCCAGCCCCCAGCCCCCAGCCCCCAGCCCTGGGCTGGTGCGAGCTCCCTGTTGAGCTGCTCCTGGAGGCATGGGAAGAGGGGAGCAGCGGGAGGATTCTCAGGGAAGCCATCACCTCAGCCCCCAGGTAGAGGCCCCAGGACCACCTGCAGGACAGGCCATTCACCTTTCGGGAGGTGTGCAGGAGCACACAGCCACCGGAAGTCGCTTCATTCTCTGCCGGAGAAAAGCGGGGAGGGCTCAGGGTGCCACCCTCTCCTCAGGTCTTTCTTAGTAAGGCGAGTCACACCTGCCCAGTCCCGTGCCTTCCCCCAGTCTGCCCCTGCTGCAGCCCCCATACCAGTGTTGGTGGCCTGCATCTCAAGGTTGACATTGACAAAAAAACGGATACTCTCGCCAGACACGATGGAGGAGTTGGCAGTGTCGAAGGCCTCATCCCCCAGGATCTCCTCTCGGGCTTCGAAGGTGTCATCTGTGTCACACTTGTAGTAGCCTAGAGACCCCCAAGAGCAAGAGGGCCTGGCTGTTAAAGTGCCACACACAGGAAGGAGGGGCTCCAAGCCCAGGGAGCAGGGACCCCTGGACTGTCCCACTCTCGGGCCGTGGTGGGAGAGGCCATCCCATAGGCGAGGAAGGCAGCTTCTAGTCCTGCCCCAGCCCCACACAGGACATGGCAGCTGCCACAAAGTGAGTCTCCAGCATTCCCTAGCCGCTGAGACCAGGACCCTGCGCAGCTTTGACCCTTCAGCGTGAGAAAAACATGTCCACTCCAGACACATTGGGGCAGGCACGGAGTGCAATAATGCAGATGAGACTGCCTGGCCCCTGCCCTCCCAAAGTAGGGAACACAGGGAAGGCAGAGAAGCTGCAGTATCCACGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCACACACACACACACACACACACACACACACACACACACACACACGCTGCCTTGTGGGCACAGGGTCTTAGAGCTCCGCCTCCCCAGGAGGGCAGGTGGGGAGAAGCATCGAGGCTGAGAGACCCAGGACAGGTATCAGACAAGGTCTAGGGAGCAGGAAAACCAGGGAAACAGAGCCAGGGGCTGACAGGGGAGAGGACCCCAAGGCCTCATGTCAGCCCTGCCCCCATCGTGCTCCTCTTCATGTTCTGGGGGCCCTGGGTAAGGGCACATGGAGAGTGAGGGTGTGTAATGGCACCTGTGGGATGTGGGACCCCAGAGGTGAGAGCCTGCTCCCCTTGGTCCTCAATTCCTGCAGCTGGCCAGCAGCACACCCCTCTTCCTACAGGAAGATTTCCTGGTAACATGCAAATATTCCTCTGCCCTGAGCCCTGCAGTGGCTCCCTGCAGCCTACAGATCACAGCCTGAGCCAGCCCTGCTCCCCCTGCCCTGACCACTGGCTCCTCAGGCCATCCGGTCAGCACCCTAGGCATGCAAGGTCCTGTCCTCCAAGCTGAGGGCTTCCCTCCCTGGAGGGCCTTTTTCAAGACTCACTTGGAACCTCCTCCTCCAGGAAGTCCTCCTAGATCCCTGCCTCACCCCTGGCCACTGGCAGCCCTTCCTGTCTTGTGGGTCCCCTAAGGTTCCTCACTTGTAGGTACTCCCAGGAAAGGGGCCCTTATAGCCCAGACCCCACTGATGCCTGACAGACACCTGTGCAGAAACAAGGATGGGTCAGCAGCACGCCTGCACCTGCCAGGGAGTGACTCACCCTGACTCACTTCTACTCCCGCCGCCAGTTTCCTTGGCACATCCCAGGCCCTGTTCCCCCAGTGTCCTGAGTTTAGCCTGGGCCCCTTCTGGGTAGGAANNNNNNNN	pathogenic	310,935
Does the variant on chromosome 20 at location 3668985 affecting gene ADAM33 (ADAM metallopeptidase domain 33) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	benign	GGTTTCACCACATTGGCCAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTAGATTCTCTATTTTATGATGGTTTAACATCTCGGGGTGGGGGCTTGTTGGCTGGAGAGAAACTGCTTGATTCCTGGAGATCAGAAACAACTCATGCCTTTCATATGCAAACCGACCAGTCTTGAGTCCATACACCAACCACCCCCTTCAAGGAACTCTCACATACGAAACCAGTATTTCCCCTGCCCTAAACCAGCTCAGGGCCAGGCACCTACCCAGACAATTAGAGCCCAACCCCACGCCCCAAACCCCACCAGAATGATTCAAAATGCCAATCCTACCCTCTTCCCCTGGCCTGCCTTGCCTCCCCAGTGGAAACGGCACTGTGGGCTGTGGCCTGTGCCTTCCACTCGCTCCTGATTCTGTCCCTGGACCAAACCTAGTGCCTCCCCACTGTGGCCCTGCATGGTGGGAAACTGTGAGTAATAACTTATTTCAACAGCATTGGCCTCTGTGTCATCAGTCACCTTCATAAATTAAAATTTTGCAACTACAACTGAGGCAGGAGGGGGCTTTAGAGAGCACTCTCACCTGGCCCCTTGGGCTTGTGGAGTGGAGCCCGAGGTGAAGTTGCCTCCCTGCACTCAGTTTTGGGATGGTTTTGTTATGCGGCAACAGCTGGCTGATATAGGCCACTCAGCAGCTCTTGCATGAAGCAATGGGAGAATGTGAACGCCCAAGGGAAGCAGGAGTGACAGAGCAAAGAGGGTGTTCAAACTAGGCAACACCGTCCTGTGCCCAGACACATGCCTGGGGCTCTGGCTGCCACCTAGGCTCGGCCTGCCAGCCACCACCCCGTCAGCCACCACCCCATCAGCCACCACCCCACCAACCACCACCCCGCCAACCACCACCCCGTGTGGTCCTCAGGGCACCCCATGGGTTGAATTTACATACAGAAAAGACTAACCAAGGTCCAAGTGTAATATGTCTTTTTAAAATTTATTTTAGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCACCATAGCTCACTGCAGTGTTGAACTCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGCAGCTAGGCCTACAGGTACACACCACCACGCCCAGCTAATTTTAAAATTTTTCTGTAGATGCGGTGTCTTGCTGTGTTGCCCAGGCTGGTGTGGACCTGCTGGCCTCTGGTGATCCTCCTACCCCGGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTATAGCCAACATGTCTTTCTTTTGACTTCTACTTTGGTATCTTTTCTTAAATGGTTCCCTCTGTCCCCCCGACACACACAGAATGGGGGAGAGGCTGTCAGATTCTGAGCTCCAGAACCTCAGGTGTAGCACTGGGATTGGGGGTGGGGGCTCAGGAACCACCTAGGGGAGAAGACAGGGTGGGAAGAAACAGGAAGGAAGGTCCCCAAAATTATGTTTGTTTGCAGAGGCCAGCCAGGCTCCAGGGGAGTGTGGACTCAGTCGAACCATAGGGCCCCAGGACCACTAGCTTCTGGCCAGCAGTCATGCCCTCCACAGAGCTGGGTCCGTGGAAATTGCATGTAGGAGACACACCAGACTCCCAGGACAGAGCCCTTTTGGGATGGCCAGCACTACCCAGCCTCCACTGGTGAGGGAGGTCAGGGGCTGTGTGACCTTTGCTTCTGGGACTGATGGTTTATTGAGCTGGAGAGTGTGCCCAGCAGTGTTCTCCAGCCCTCAGGAACTTCTAATGTGGCTCTGGGTTCCTGGAGTGGGTGGGTCGAAGCTCCACTCGGGGAAGAAACTTCCAAGCTGCCTGCAGGTGCTGGAGGTCCGGTGATTCACTGGCTCTGCCCCTGCAGTTCAAGTTCCTGGAGTGGCTGTCAGTGGCCACCTGTCTTTAAATCTGTTCATTTTAGGAGCTACCTCTCACCAGAGGCAGGATCTTGGCATCTGGACTTGATCTGCTGAGAATGAGGAGGATATGTTGTCCCCTAAGGACTGGGGCCCCAGGCTGCAAGCTGTGTGGCAGAGAGCCCATCCTCACTCAGTGAGGACCAGTGATCCAGGAAAAGCCACAGCTTCTCCCTCCCCAGCCCAGGGGCTTCCAGCATCCTGGTCTGCATGATAACCAAGAGGTCATAAACTCATTTCCATAATAACCTGAGCCCAGAAACCTGATTAGGGGGCAGCAAACTGAGGGGTGGGAGAGGTGGGAGGGTGGGCGATGAGAGGGGGAGGCTTTGAATCCAGGTCCCTGCCTACCTTGGGGGTCAGGCGAGACTGCTGGCAGAGGCTTCTCAGGGTGGCTGCTGGGCTCATGAGAGTTCTCAGGGTCTGGGAGAAATGGTGGAGGGTAAATGTTGTGAATATGGTCAGCAGGAGCCCCTGGGGCTGGGGAGGGGCATAGGGGACTCAAGGTGACTGGGTGCTGCCCATCTGGAAGGAGGCAGGAGGCATGAGCCCTTCCCTTCTCCCTTCCCTCTCCACCTCCCCCTGGTGCCTCACTCACCCAGGGGCCAGGGCTGTCCAGTGGCTGTGGGGCCCAACTCCATGGGGTGAACGCCGCCCAGGGGGTGGTCCCTGTGTGGGCCATCTTTGGGGCTGAGCAACGTGATAAGAGTCCAGGAGGTTGGCACAGTGATCCTGAGTGGGTTATTGCCTCCCCGCAGCATGGTGTCCAGCCCAGGGAGTTCTGCGTTTACTGAGTTTCTTGGGGCACCCATCTGCTCCAAGTCACCCTCTCAGCTCCCTTCCTGCTCCCTCTTCAGGGGAGCCTTGGGATCCAGGCTCCAAGTGAGCCTCATGCCCTCGGCTGGCACCTCCTCTCTCTAGTCCTAACATTTCCTCCAGGCTCTGACAGCAGCCTGGCACTCTCCAGATGCTGGCATCGCTCAGCTTCCAAAGAACCTTGGATGTCCGCCCCTTCGGCAGCTATGTCTGCTCTCCTTGCCCCTGGGTGCCCTGCTGCCCTTGATGATTCCAAGCCATCTTTGACTGTCCCCATCCCATCCCCCAAGGCCTTGTCATTTCCTGTGATGTTCCTTCAAAACATTCTCCCCTGCCCTGAGACTCCCGCCTGGGGATGAGAAGCAGCCGCCACCCTCTGCAGCGCCCCCTCCGTGCTGACACGCCAGGCTCTGGCCACCTTGCTCCTCTGCCCACAGACCCTCAATCACAACTCGCTTTGTCAGGGTCCTCTTAGCTGCCACCCGGGGCCCAGGTGGTGCCCTGCCCCTGTCTGTTATGCCCTCTGCCCCCATCTCTGGCCCAAATCATGCCATCTCCCTTGGCTTGCCCGGAGCACTCCCAAGACCAGGCTATGTCAGACATGGCCACAGAGTGCCTGCCCTGCCTAGGGCCCTGGTGCAGGGTGAGTCCTAGGACAGCCATGCTTAGTATTATGTGACTCCCCACTCCGCCACCACCCAGGTCACAGAGAACTGGGTTAAGGCAGGGCCCTGGCACAGGGGCAGCCAGCACCGCAGCTGACCAGTGGTATGGAGTGAAAAGATGTGCTGGGCCCAGCATTTGGGAACTTCAAGGGGGTGACAGAGGTGATTTGTGCAGAGGAAGTGGCAAAGGGCCGAAAACTGGTGAGACAGAGGCTGGACAGGCCTCCGGGGGCAGCATGGTACAGGGACTGCAATCTGAGCCAGGGAAAAACAGGGCGAAGTCAAGGGTGAGGCAGCCAGCTGGTGGGAGAAGCAGGAGAGTGGACAAGAGGAGCTGTACTGGGAGGTAGAGGGCCATGCCTTGCGGTGCTGGTGGTGGGGCAGGGATCCACCCCCTCGCTTGACTGGGAGGCCACTGGAACCTCCTGTTCAAAGCTACTTCTTTCCATGGCCTCTGGGGCTGCTCTCTGCACCTGGGGGCAAGGCTGAGGGCCTGCCCCAGCTCCCACAGCCCCAGCAGAGCTCTGAGGAGGGGAACCGCAGGAGTAGGCTCAGGAAGCAGGCGCTCGGAGCCTACCCACTGCACGCAGGGTCCCTTCTGCAG	GGTTTCACCACATTGGCCAGGCTGGTCTCGAACTTCTGACCTCAAATGATCCTCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCTTAGATTCTCTATTTTATGATGGTTTAACATCTCGGGGTGGGGGCTTGTTGGCTGGAGAGAAACTGCTTGATTCCTGGAGATCAGAAACAACTCATGCCTTTCATATGCAAACCGACCAGTCTTGAGTCCATACACCAACCACCCCCTTCAAGGAACTCTCACATACGAAACCAGTATTTCCCCTGCCCTAAACCAGCTCAGGGCCAGGCACCTACCCAGACAATTAGAGCCCAACCCCACGCCCCAAACCCCACCAGAATGATTCAAAATGCCAATCCTACCCTCTTCCCCTGGCCTGCCTTGCCTCCCCAGTGGAAACGGCACTGTGGGCTGTGGCCTGTGCCTTCCACTCGCTCCTGATTCTGTCCCTGGACCAAACCTAGTGCCTCCCCACTGTGGCCCTGCATGGTGGGAAACTGTGAGTAATAACTTATTTCAACAGCATTGGCCTCTGTGTCATCAGTCACCTTCATAAATTAAAATTTTGCAACTACAACTGAGGCAGGAGGGGGCTTTAGAGAGCACTCTCACCTGGCCCCTTGGGCTTGTGGAGTGGAGCCCGAGGTGAAGTTGCCTCCCTGCACTCAGTTTTGGGATGGTTTTGTTATGCGGCAACAGCTGGCTGATATAGGCCACTCAGCAGCTCTTGCATGAAGCAATGGGAGAATGTGAACGCCCAAGGGAAGCAGGAGTGACAGAGCAAAGAGGGTGTTCAAACTAGGCAACACCGTCCTGTGCCCAGACACATGCCTGGGGCTCTGGCTGCCACCTAGGCTCGGCCTGCCAGCCACCACCCCGTCAGCCACCACCCCATCAGCCACCACCCCACCAACCACCACCCCGCCAACCACCACCCCGTGTGGTCCTCAGGGCACCCCATGGGTTGAATTTACATACAGAAAAGACTAACCAAGGTCCAAGTGTAATATGTCTTTTTAAAATTTATTTTAGAGACAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCCACCATAGCTCACTGCAGTGTTGAACTCAGGCTCAAGTGATCCTCCTGCTTCAGCCTCCTGAGCAGCTAGGCCTACAGGTACACACCACCACGCCCAGCTAATTTTAAAATTTTTCTGTAGATGCGGTGTCTTGCTGTGTTGCCCAGGCTGGTGTGGACCTGCTGGCCTCTGGTGATCCTCCTACCCCGGCTTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCACGCCTATAGCCAACATGTCTTTCTTTTGACTTCTACTTTGGTATCTTTTCTTAAATGGTTCCCTCTGTCCCCCCGACACACACAGAATGGGGGAGAGGCTGTCAGATTCTGAGCTCCAGAACCTCAGGTGTAGCACTGGGATTGGGGGTGGGGGCTCAGGAACCACCTAGGGGAGAAGACAGGGTGGGAAGAAACAGGAAGGAAGGTCCCCAAAATTATGTTTGTTTGCAGAGGCCAGCCAGGCTCCAGGGGAGTGTGGACTCAGTCGAACCATAGGGCCCCAGGACCACTAGCTTCTGGCCAGCAGTCATGCCCTCCACAGAGCTGGGTCCGTGGAAATTGCATGTAGGAGACACACCAGACTCCCAGGACAGAGCCCTTTTGGGATGGCCAGCACTACCCAGCCTCCACTGGTGAGGGAGGTCAGGGGCTGTGTGACCTTTGCTTCTGGGACTGATGGTTTATTGAGCTGGAGAGTGTGCCCAGCAGTGTTCTCCAGCCCTCAGGAACTTCTAATGTGGCTCTGGGTTCCTGGAGTGGGTGGGTCGAAGCTCCACTCGGGGAAGAAACTTCCAAGCTGCCTGCAGGTGCTGGAGGTCCGGTGATTCACTGGCTCTGCCCCTGCAGTTCAAGTTCCTGGAGTGGCTGTCAGTGGCCACCTGTCTTTAAATCTGTTCATTTTAGGAGCTACCTCTCACCAGAGGCAGGATCTTGGCATGATCTGCTGAGAATGAGGAGGATATGTTGTCCCCTAAGGACTGGGGCCCCAGGCTGCAAGCTGTGTGGCAGAGAGCCCATCCTCACTCAGTGAGGACCAGTGATCCAGGAAAAGCCACAGCTTCTCCCTCCCCAGCCCAGGGGCTTCCAGCATCCTGGTCTGCATGATAACCAAGAGGTCATAAACTCATTTCCATAATAACCTGAGCCCAGAAACCTGATTAGGGGGCAGCAAACTGAGGGGTGGGAGAGGTGGGAGGGTGGGCGATGAGAGGGGGAGGCTTTGAATCCAGGTCCCTGCCTACCTTGGGGGTCAGGCGAGACTGCTGGCAGAGGCTTCTCAGGGTGGCTGCTGGGCTCATGAGAGTTCTCAGGGTCTGGGAGAAATGGTGGAGGGTAAATGTTGTGAATATGGTCAGCAGGAGCCCCTGGGGCTGGGGAGGGGCATAGGGGACTCAAGGTGACTGGGTGCTGCCCATCTGGAAGGAGGCAGGAGGCATGAGCCCTTCCCTTCTCCCTTCCCTCTCCACCTCCCCCTGGTGCCTCACTCACCCAGGGGCCAGGGCTGTCCAGTGGCTGTGGGGCCCAACTCCATGGGGTGAACGCCGCCCAGGGGGTGGTCCCTGTGTGGGCCATCTTTGGGGCTGAGCAACGTGATAAGAGTCCAGGAGGTTGGCACAGTGATCCTGAGTGGGTTATTGCCTCCCCGCAGCATGGTGTCCAGCCCAGGGAGTTCTGCGTTTACTGAGTTTCTTGGGGCACCCATCTGCTCCAAGTCACCCTCTCAGCTCCCTTCCTGCTCCCTCTTCAGGGGAGCCTTGGGATCCAGGCTCCAAGTGAGCCTCATGCCCTCGGCTGGCACCTCCTCTCTCTAGTCCTAACATTTCCTCCAGGCTCTGACAGCAGCCTGGCACTCTCCAGATGCTGGCATCGCTCAGCTTCCAAAGAACCTTGGATGTCCGCCCCTTCGGCAGCTATGTCTGCTCTCCTTGCCCCTGGGTGCCCTGCTGCCCTTGATGATTCCAAGCCATCTTTGACTGTCCCCATCCCATCCCCCAAGGCCTTGTCATTTCCTGTGATGTTCCTTCAAAACATTCTCCCCTGCCCTGAGACTCCCGCCTGGGGATGAGAAGCAGCCGCCACCCTCTGCAGCGCCCCCTCCGTGCTGACACGCCAGGCTCTGGCCACCTTGCTCCTCTGCCCACAGACCCTCAATCACAACTCGCTTTGTCAGGGTCCTCTTAGCTGCCACCCGGGGCCCAGGTGGTGCCCTGCCCCTGTCTGTTATGCCCTCTGCCCCCATCTCTGGCCCAAATCATGCCATCTCCCTTGGCTTGCCCGGAGCACTCCCAAGACCAGGCTATGTCAGACATGGCCACAGAGTGCCTGCCCTGCCTAGGGCCCTGGTGCAGGGTGAGTCCTAGGACAGCCATGCTTAGTATTATGTGACTCCCCACTCCGCCACCACCCAGGTCACAGAGAACTGGGTTAAGGCAGGGCCCTGGCACAGGGGCAGCCAGCACCGCAGCTGACCAGTGGTATGGAGTGAAAAGATGTGCTGGGCCCAGCATTTGGGAACTTCAAGGGGGTGACAGAGGTGATTTGTGCAGAGGAAGTGGCAAAGGGCCGAAAACTGGTGAGACAGAGGCTGGACAGGCCTCCGGGGGCAGCATGGTACAGGGACTGCAATCTGAGCCAGGGAAAAACAGGGCGAAGTCAAGGGTGAGGCAGCCAGCTGGTGGGAGAAGCAGGAGAGTGGACAAGAGGAGCTGTACTGGGAGGTAGAGGGCCATGCCTTGCGGTGCTGGTGGTGGGGCAGGGATCCACCCCCTCGCTTGACTGGGAGGCCACTGGAACCTCCTGTTCAAAGCTACTTCTTTCCATGGCCTCTGGGGCTGCTCTCTGCACCTGGGGGCAAGGCTGAGGGCCTGCCCCAGCTCCCACAGCCCCAGCAGAGCTCTGAGGAGGGGAACCGCAGGAGTAGGCTCAGGAAGCAGGCGCTCGGAGCCTACCCACTGCACGCAGGGTCCCTTCTGCAGNNNNNNNN	benign	310,965
The chromosome 20, position 3889432 genetic variant in gene PANK2: benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Pigmentary_pallidal_degeneration']	CTGCAACCTCCGCCTACCGGATTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTG	CTGCAACCTCCGCCTACCGGATTCAAGTGACTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCACCACCACGCCCAACTAATTTTTGTGTTTGTTTTTTTTAGTAGAGACGGGGTTTCCCTGTGTTGGCCAGGCTGGTCTCGGACTCCTGACCTTGTGATTCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGT	pathogenic	310,992
Clinically, how would you classify the variant at chromosome 20, position 3889603, gene PANK2: benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Hypoprebetalipoproteinemia,_acanthocytosis,_retinitis_pigmentosa,_and_pallidal_degeneration', 'Pigmentary_pallidal_degeneration']	TCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTT	TCGCACGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTTGAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTNNNNNNNN	pathogenic	310,999
Chromosome 20, position 3889645, gene PANK2: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Pigmentary_pallidal_degeneration', 'Retinal_dystrophy']	GAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAAT	GAGCCACTGCGCCCGGCCGCTTTCTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACAGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAA	pathogenic	311,002
Does the variant on chromosome 20 at location 3889668 affecting gene PANK2 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Hypoprebetalipoproteinemia,_acanthocytosis,_retinitis_pigmentosa,_and_pallidal_degeneration', 'Pigmentary_pallidal_degeneration']	CTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCA	CTTTTGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCANN	pathogenic	311,003
Variant chromosome 20, position 3889672, gene PANK2: benign or pathogenic? Disease(s)?	pathogenic; ['Pigmentary_pallidal_degeneration']	TGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGCGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCAGTGG	TGGTTATCATAAGGCGGGCAGTAGCTGAACTTCTCAGGAGTCCAAGCTCTGTCATTCTTTAGGCTTTGTGCTTCTGGATAAGTTACCTCATCATCCAAATGTTACTGCAAGGACTAAGTGAGATGTAGAGGCAGTGGGCAAATTGTGTAAAAATACTACTGTTTCAAGTGTTTTGATGTTGGAGTTCATCTTGCCAGCCAAGGGATGATGATACTTTGATTCTTCAGGATGATCAGAGCTCAGACTTGGACGGAAGCTCCCTCAGGTCAAGGAGGACCACATTTTTTGGGGGGTGGAGAGAGGAGGCAGAAAGAGAGGCAATGTCAGGCACTGAGATTTAGAAGAGTAGCTATAGCTGTTTTTGGTTCTTGTAGATCCGTCTGTGTTGGCTTCCTACAGGAGCTAGAATTTTCAGAGCTAGTCCTACAGTGAGGGGAGCTAACGTGGAGTGGGCGTGAGAATTCTATTCAGCAAGCACAAGCGAAGCTCAACCTTTTTGTTCAGCCTGCTACAACCAATCATTATGGGAGAGGGGAATAAGGATCACTGCCCAAGGGGCATTAGGATCACTGCCCAGTGGGCATTACAGTCTCCCCAGGGAGGCACTCTTTTTTATTTTTTATTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCACAATGTTGGGTCACTGCAGCCTCCGCCACCCGGGTTCAAGCAATTTTCCTGCCTCAGCTTCCCAAGTAGCTGGGATTATAGGCATGGGCCACCACGCCCCGCTAATACGGAGGCACTTTTAATTAGCCCACAGTCCAGTGAAATTTGACGGAGTGAGGAAGTGACCTCAGAGTACAGAACGGGATGGGATCCTTCCGGGCTTGGGCAGCCTTTGGTAGTGGGGATGCTTGGAAGGGTCAGGGTCTCAGTCCTGGAGGTGACCAATTTTTCTCTCCAAAAGAGAAAGGAAGATGATTAAAAAAAAAATCCATGCTCCAAAGCGGCAGCCAAATCCTTCTATGGCCCCCAATGCATCACCCAGAAAGGGGCTCCAGACTCTCCTGCAAAAGGCCAACTCTACTTCCCGGCTCCCACTTCCCCTCCTTCGCCACAGGAGGGTGGCGAAGGATTTATAACCCACCTCTTTCTTTCAGTTGCCATGGAGACAAGCCCCAGTCCTTTCATTCCTTCTGGTACCTCTCTCTCCAACGCAGGCGGAAAGGAGGCGGCTTAGCCCAAACATGCTGGGGGAGGGGCTGGCGGCCTCGACGGCAGCTGCGGAACTAGGCCGAGGGACAAAGGCTAAGGTCAGCCGCGGTTCAAGCCCTTTCGTCTGCCGACGACCAGCGGCCAGACGCTGCGGGAGCACTGCTGGGCTGGAGGAGGGCTCGAGCTGCGAGGACGGCACGGAGCAGCGGGGTGGGACTCGGGGTCGCCCCAGGAGAGTTCCGCGGCCCGGGGGGGCAGAGGCATGCACAAGTGGGGGGCGGAAGGAGGGGGTGGATGAGGAGGCTCGGGCCCTTCCACCCACGCGTCCATTGGGCGGCGCCGCCATCACTCTCTTCTGGGCTACACCGCCTTCTCTTCCTCCGCGGAACCCGGATCCCCTCCTCCACCACCCTCTCCCCGCCCCGTCACGATAGCCTCTCATTGGACGGAGGCACGGTCAATCCTCCTCGAGTTAGGGAGCCGACTGGACGCGAGGCCTTTGGGCCGTCCCCAGCCTCGTCGGATTGGCTTCCTGCGCGTTGGCGCAACGGAAGAGGCGGCCGGCCGAGGGCGCGCCTCTGCTCTGGCTGGACTGCCGCGGAGGAGGCGAGAAGGAATCCGACGCTGGGGGGCTTGCTCGGGCGGCAGCGACTGCTGCTGCGGATGGGAGGGGGCCGGCTCGGCGCGCCCATGGAGCGCCACGGCAGGGCTTCCGCCACCTCCGTCTCGTCGGCTGGGGAGCAGGCGGCCGGGGACCCCGAAGGGCGGCGGCAGGAGCCACTGCGGCGCCGGGCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGAGGGCACGAGGCGGGATCGACTGGGCTCTTACAGGGCCCCACCTCGGTCTCCCGCCAGCGCGTCGAAAGCCTGAGGAAAAAGCGGCCGCGTAAGTGTTCCGTGGGGCGCCCTCCCGGCCCGCCCTGCCCCCCCTTCCGGCCCACCCTGTCCCCTTCCGGCCCCGCCGCCGTTTTTCCCGCGCGCGGACACTGTCCCCGCACGGTGGTCCCTCGTTGGTGCGTGGCCTGACATCCGGCTGGAGGCCTCGGGTGCTCCGAAAGCGGTACCTTCGGGGGCCCCCCCGCACCCATTGGTATGCACTTCCCGCTTGTTGGAGTGGAGGGCTTTTCCCCAGGACCTGTCCTCCCTTTTCTTAGCTCCTTGGGCATTCTCTTCCTGAGGGTCACATGATTTTATCCTCGAGAAGGCTTCTTTTGACTCATTTCCACCTCCTTTCCTCCCAAATCCTTTGAATCCCCAATGTTTGTTTTCCGTGGGTTTCCAAAGAGCTGCTCTCTAATACTTTAAGTCCCTTTTATTCGTCAATTTCGGGCTTACTGGAAAATGGTGAACTGCCCCTTGAGTTGCACCAGGCCTGAAACTGTATTCCGTGCACCTCTAAGGTGGCTGCCCTTCTTCTCGTGAGAATCCAGGTCATCTCTCACCCACATATCCCCTCCGTTTTCCTTCTGTCTATTTGCAGGTACTCACGATTCAGAACTGTGGCATTCTGGGCATTAAGGCTCTTTGTTTTGAGGGGAAACAACATCTTTCTGAATTTTGCCTTGGGAGTTGCATACGCTCCTCCCAGAGAATCCGTTTCCCCATTTTATTAGGTTTCTTTTTCTGTGTTGTGTATTTTCTCCCCTTTACAAGTCTTCAATTCAGGACCGCTGCCTGGCAGCCATTGCTGCTGTTGAAAGTATCAATTGTCCTGATACTGTAATATGAGCTTTACAGTGTGATGCCATTTTACATATGGTTGGACTTTTTGGTGGGTGTTGCCAGATTCCTATTTCAGGAAATTGACTTGTTTAAATGCAGATTGTGAGAGGGAGGGAAAATGGCAAGATGTGAGATTTTTATTGAATAGTCTTCTACCTTAGCCCAGTCACCCAACTGCTTTTTTGAATCTTCTCTGATATGGATGATTAAATGTAGTTCTATTTTGCTGTGAAAAGTTTGGGAGTTTTCAGTTCTTTTGTCTTTTTCCATCTTCTTGCAACAGATTTGGAAAACAGATTCTTAACCTGTGCCATTTTCAGAGTCAGTCACCTAGTTTTGTTTTATTTGAGAAGCACCTGAGTTTGAAGCAATGCAAAATATGAGATCCTTCATGGTTTTGTATTACATCGTTGGAAATGGATGTAAATTCCAAAGATTCAGCAAATAAGAGTATAGCCATTAGCCACAAGGGTTTTTTTGGTTTGTTTTTTGTTTTTTACTTTGAGACAGCGTCTTGTTCTGTTGCCCAGGCTGAAGTGCAGTGGCATGATCATGGCTCATTGTGGCCTTAACCTCCTGGGCTCAAGCCATCCTCCTGCTTCAACCTCCTGCATTGCTGGGACTAAAGGCACGTGCCACTATGCCAGGCTAATTTTTCAATTTTTATTTTTTTAAATAGAGATGGGATCTCTTATGTTGCCCAGGCTGGTCTTGAATTCCTCCTGGTCTCAAGCGATCTTCCCACTTCGGCCTCCCAAAGTGCTGGGATATAGACGGGAGCCATTGTGCCCGACCTGGCAGTCGTCTACTAAGAGCTTTGGTAACTCATTAGCCTCGTGGCTCTGAGGTAGGTGGTAGTATTCCATTTTACAGATGAGAAAACTGGGACACGTTTGCCCGGTCAAATGGCTAGTGCGTTGTGAAATAGAAATGTAAACTCAGAATTGCTAGCTTCATAGCTTTTGCGGTGGACCACTGTGTTTTTCTGAATTATTTACGTTCTGTTAGTTATTTCTTCATTGCTCTAAGACCAAGCATAAGTTTGATCTTTTGTGTTCAAGACTGACTTACTTGAGGCGAAAATTTTTAGATACTGTGGAAGTACTTCCAAATATTGAGCATGAGAATGACCTGGTAAAAGTGCAGATTCAGTGGN	pathogenic	311,005
Variant on chromosome 20, at position 3908117, affecting PANK2 (pantothenate kinase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Pigmentary_pallidal_degeneration']	ACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCA	ACAGATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCANN	pathogenic	311,019
Evaluate this variant at chromosome 20, position 3908120, gene PANK2 (pantothenate kinase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Pigmentary_pallidal_degeneration']	GATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAG	GATGCTTTTTGACTTACGATGTTTATGCTACATTCCATAAACCCATCAGAAGTTCAAAATACTGTAAATCAGGCTGGGCGCAGTGGTTCACACTTGTAATCCCAGCACTTTGGGAGGCTGACCTGGGTGGACTGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGCAACATGGGGAAACCCTGTTTCTACAAAAAATACAAAAATTAGGTGGGTGTGGTGGCATGCACCTTTAGTCCCAGCTGCTCAGGAGGCTGAGATAGGAGGATTACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATTGTGGCGTTGCATTCTAGCCTGGGTGACAGTGAGACCTTACCTCAAAAAAGAGAAAAAGAAAATACTGTAAGTCAAAATGCATTTAATATACCCAGCCTATTGAACATCATAGCTTAGCCAAACCTACCTTAAATGTGCTTAGAACCCTTATATTAGCCTACAGTTGGGCAAAATCTTCTAGCATAAAGCTAGATGATTTAATAATGAATAATATAAAAGATAATTATTTTACAATAAAATGTCGAATATCTTGTAATTTATTGAATACTGTACTAAAAATAAAAAAAACAATAAATACTTGAAGTAGAGTTTCTACTGAATGCTTATTGCACCATTGTAAATTTGAAAAATCATTACTTTGAGCCCTCATTAAATTGGGACCTTCCATATGTCTGTGCAGTCCACTTTGATCCAATCTCTTCAGGCCTTTTTTTTCTTTGAGACGGAGTGTCACTCTGTCGCCAGGCTAGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCTTCTGCCTCATGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAAGCGCACGCCACCACAGCCAGCTGATTTCTGTATTTTTAGTAGAGATAGTTTCACCATGTTGGCCAGGATGATCTTGGTCTCTTGACCTTGTGATTCACCTGCCTTAGCCTCCCCAAGTGTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCCTGCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGCCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAGTCTCCACCTCCCAGGTTGAAGCAGTTCTGGTTTAGATTTCCTGAGTAGCTGGTACTACAGGTGCACGTCACCATGCCTGGCTAATTTTTGTTTTAGTAGAGATGGGGTTTTACCATATTGGTCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGTTGAAATTACAGGTGTGAGCCACTGCGCTTGGCCTAAAGGACATTTTGGGAACCGGTGTTAATGTCTATTGAAACCTTTTATTTTTGGAATATCAGATTTTGAAAGATAAATTGACCATTGGAGGTTATATGTTACATAGGTTTGGGAATTTCCTGTTTCTAGTTTGCTGCTAAACCAGAACTCTGAAGTCTCAATGTTTTTTTTTAAGCCGATAGGAAAGAGAGATTTTCATTCTGAATCTTTGTTTTTCACAGTTGAGGCTTACGAGTAGTCATCTTGTTATTTTTAAAACACTTCATAGTGCGGTTTGCGCTTGTCTGACAGAATGGTTGGGTTGGCTCAATACTTTGATATTTTTCTTTTTCGTCTTTGCCGTAGTATTTTTTTTTTAAGTTATGCATCTAAATCAAGACAGAATCACATTTCTTTGCCCCAAAACCCTTTTGCCTAGAATTATGTTCTTTGGAAACCCTAGCGTTTGAAATAAGTTGCTACTGTGGTAAGGGTAAATTTAATTTTCAGAAAAAAGCTGTTCTGACTTATTTTTCTTCCCCATTTAGTTTTTCCATGGTTTGGACTGGATATCGGTGGAACTCTGGTCAAGCTGGTATATTTTGAACCCAAAGACATCACTGCTGAAGAAGAAGAGGAAGAAGTGGAAAGTCTTAAAAGCATTCGGAAGTACCTGACCTCCAATGTGGCTTATGGGTCTACAGGCATTCGGGACGTGCACCTCGAGCTGAAGGACCTGACTCTGTGGACGCAAAGGCAATCTGCACTTTATACGCTTTCCCACTCATGACATGCCTGCTTTTATTCAAATGGGCAGAGATAAAAACTTCTCGAGTCTCCACACTGTCTTTTGTGCCACTGGAGGTGGAGCGTACAAATTTGAGCAGGATTTTCTCACAGTATGCATTTTTTAGCTTATATACAATTTATGGTAATTTGATTGTTAAAAATAATGCCAGTAGCAAGTGGTGAAATAATTTCCATCTCTAATGGAACTTGAATTTTCTTGAGTCAAATGAAGATTAAAGGTACGCTAGTGATAGGAGTTGGCCATCTAGAGGTGGTTGTCTAGTTCAGATGTATGGACGACAATCAGAACCACTAAAAGGGTAGCATTTTATTGCTCCTTTAGTATGAAAAATTAGGGCATCTGCTATACGTTGAGGAAGAAACTACCTAAAAGGAACATCATTAGATCATGAACAATGAGATTGAAATATAATTAAAATCATTTCATGTCATAAAATTGTTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGNN	pathogenic	311,020
Considering the genetic mutation at chromosome 20, position 3910677, impacting PANK2 (pantothenate kinase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Pigmentary_pallidal_degeneration']	TTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGG	TTTTCAGTCTTGTCTACCACATAATTTCTCTTGTCTCCCTCAGTTGTTTGCTGGCATGTTCACTAACTGAAAAAAATAAGGAACTCTGGTCAAAAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGNNNN	pathogenic	311,032
Is the genetic change at chromosome 20, position 3910770, within gene PANK2 (pantothenate kinase 2) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Pigmentary_pallidal_degeneration']	AAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGG	AAGTGGTGTTTTCAGGCTCAGGGCTGGTCTGAGATGGGTGACTGCAGAGCCCTCCTCTCCCAGAATGCTTTCTGATGTGTTCTGTGCTGCACACTTAACTGGAGTCTCGCCACCATGTCTGGCCCCTGGGGAATGCTGCCAGGCGCTCTATCTTGCTTTCATTGAGTGAACACTGGAGAACATTGTGAGCAAGACCTTGAGGCTAGGTCCTTTCAGGGTGGATGGTGGGGGTAGGCCGGAGAACTGACAAATGAATAAGCCAAGATCCTGACCGTCAGGGTGCAATACAGATTGAAAATGTCTTCAGTGACTGACTGTTTTTCTGTTGCTAAATGAGAGAATATTAGTCTGAAAGAGATTCTGCCTTTTTGTTTTGTTTTGTTTTCTTGAGATGGAGTTTTGTTCTTGTTCCCAGGCTGGAATGCAATGGCTCAACACAACCTCCACCTCTCGGGTTCAAGCGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGATCTCAGGTGATCTGCCTGCTTCAGCCTCCCAAAGTGCTGGGATTACAGGGGTGAGTCACCTTGCCCGGCCCAGATTCTGCCTGTTATTCTGCATGTCTTTTAGTAGAGATGGGGTTTCACCATGTTGTCCAGGCTGGTCTGGAACACCTGACCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGAATTACAGGTGTGAGCCACCGTTCCTGGCCTCAACTTTTTGACTAACATGCCTTGGAGTTCTTCCCACTTCAGAACATAAAGATCCTCTTCATTTTTGTTTTGTTTTGAGACGGAGTCTCGCCCTGTCACCTAGGTTGGAGTGCAGTGGTGCCATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGTTTACAGGCGTGCACCACCATACCCAGCTAATTTTTTTTTTTATCTTTAGTAGAGACTGGGTTTCACCATGTTGGCCAGGCTGATCTTGAACTCCTGACCTTGTGATCCACCTGTCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCGGCCGATCCTCTTCATTTTTAGTTGCTATACAGTGCTCCATAATACGAATAATAATTTAGTCATTCCTTTATTATTTAAATGGAATTAATTGATTATGAAACAGTTCAAATTTTGACTGCTAAAATTCCCCTCCCTCCCAAGAGGCTGTAGCTAGTTTAGATAGTGAAAAAAATCTTACCTTCTAACTGGATACTTTCAGCCTTTTGGCTTCAGTTTGTTAAATAATGTGTGGCCTCTTTTGATACTGCTCCAAAGCCTTGAGATGGTCCTCTGTCACAGTCCTTGTGGCTCCCACCCTGTGTCACAAGGTGGTTTCTGATAGTGCTGTGGCCTGAGCTTGGTATCAGCCCCATTGTCCCTGTAAGCAGAGATCTGAATTTCTGTTTGAAGGTTGATAAATGCTGTGGTTTTTTTTTTTTGTTTTTTTTGTTTTTTTTTTGGTCACACTTATTCAGCTGCTGCAGTAGTTTCTATGTAGAGTGTATTTGGGTCTGTAGTAGCAGGAGTCTGTCTCAGCACTGTGTCCCTAGGTTTGCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGNN	pathogenic	311,033
For chromosome 20, position 3912471, gene PANK2 (pantothenate kinase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic; ['Pigmentary_pallidal_degeneration']	GCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAG	GCTCCTAAATCTGTTCTGTAAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTCTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCT	pathogenic	311,037
A genetic variant at chromosome 20, position 3912490, affecting gene PANK2 (pantothenate kinase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Pigmentary_pallidal_degeneration']	AAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTG	AAAGCATGCACAAATAATACACATCTGTGAGTGCACTTTCATGGTTGTTTCACGTAGTGGGGATGCCTTATTGAATGGAATTTTTGTTTCTGTTGGCTTATTAAAAAGTCTGAGTACATTCTTATTTCATTACAGATAGGTGATCTTCAGCTTTGCAAACTGGATGAACTAGATTGCTTGATCAAAGGAATTTTATACATTGACTCAGTCGGATTCAATGGACGGTCACAGTGCTATTACTTTGAAAACCCTGCTGATTCTGAAAAGTGTCAGAAGTTACCATTTGATTTGAAAAATCCGTATCCTCTGCTTCTGGTGAACATTGGCTCAGGGGTTAGCATCTTAGCAGTATATTCCAAAGATAATTACAAACGGGTCACAGGTACTAGGTAAGTTGTATATAAAACTCACTGTTTATTCTTAGTATCCTAACGGGCTGAGTTTTCAGGTATTACATGTAACTACACCTTCAAGAACCTGTTAGGTGAAAGTGTTTCTGGATTATGCAAACAAATGTTTCTCTTTGAAAATTCTGATTTTATGACCTAGTTTTCTTTAATCTCTACTGTTCAAGATTTATTATCCTAGGTGTTTCTTAAAAGATCACATCAGCAGACTCATTGTAGCCTTTGCCCTCAGATAGTTTATGGTGTGCATACACAAAGTAGCTAAAGTTATTAGGCAGCATCTGTAAGGAGAAGGCACGGGAAAGGACCTAGCTCTGAAACCTGTGTAAATTTCATGCTTCCACACACATGTGTGTGTAGAATAATGATGTATTCTATGTATGTGATTTAGAAGTTGATATGTACTGATCAGTAGAAAAATTATTGAGGGAAGGTAGTATGAAAAGAGAGGATTAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGGGGCGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGCGCAGTGGCAGGCGCCTGTGAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATTGCTTGAATTCAGAGGGTGGAGGTTGCAGTAAGCCGAGATTATGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAGAAAAGAGAGTATTAGGGCCAGGCACGGCAGCTTATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCAGAGGTCGGGAGTTCGAGACCAGCCTGGCCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCGTGGTGGCACATGCCTGTAATCCCATATACTTGGGAGGCTGAGGCAGAAAAATCACTTGAACCAGGAGGCAAAGGTTGCGGTGAGCCGAGATCGTGCCATTGTACTCTAGCCTGGGCAAAAAGAGCTAAACTCCATCTCAAAAAAAAAAAATGAGGATTAGATGGAAGAAGAGAATGTTTCGGCTTAAGGGTCAGAGGTCACTTCAGGAAAAACAGGCATCTAGGGATTGGGATAAACAATTTTTTTAAAAAAACAGTTGTGATTTAAATAGAGGAGTAATTTTTTTGTGACAAAACACGTTGCAGGAGGAGTATGTTTGGGGGTGTACTGATAAGCCAGGGTGACAAGGTGCTTGGATGAGAATGACTCAGGGAATGTACTTGGAGAAGGGAAAGGGAGGAGGTGTTAGCATGGCCCCAGGCGTGTCAGGCTAATTTGCACCTGAGGCTCTTCATACTTGGCAGACAGCCAGACTGCACTGGGGACATGGGCCCTGTGTTTTGTACTTTGCATGTTGGCTCACATGCATATGTACCTTAAAGGTGTATATCAGGCACCTTATCTTTTCACAGACTTGTTTCCTACCAGTGGCATTTGCATGATTGGGTTGGATATGTGAATATGGTTTTGGGGTTCATAAATGTTAACTTCTTGTTCTTATTTTTAAAAATGTTATAATACTGTGTTAATTGTTTTTAATCATAGTCTTGGAGGAGGAACTTTTTTTGGTCTCTGCTGTCTTACTGGCTGTACCACTTTTGAAGAAGCTCTTGAAATGGCATCTCGTGGAGATAGCACCAAAGTGGATAAACTAGTACGAGATATTTATGGAGGGGACTATGAGAGGTTTGGACTGCCAGGCTGGGCTGTGGCTTCAAGGTAAGGGGGCATGTGTGTTCTAAGAAATACAGGCGGGCCGGGCGCGGTGGCTCATGCCTTTAATCCCAAAACTTTGAGAGGCCGAGATGGGCAGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGTAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGTGGTGCGCGCCTGTAGACCCAGGTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCTGGAGGTGGAGGGTGCGGTGAGCTCCAGCCTAGGTAACGGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGACATAAAATAATAATATTGGGCATATTTTTTAAAAAAGCTCTATTGAGATATAATTTACGTACTATAAAGTCAGCTGTTTGAAGCGTACAATTTAGTGGTTTCTAGTATATTTACAGGATTGTGCAACCATCACTGTAATCCCAATTTTAGGACATTTTTATCATCCTAGAAAGAAACCTTGTGTTCATTAGCTACGACTCTCCATTCCCCCCACAGCCCCTGCCAAACAGTAATTTATTTTCAATGTAGGTTTGCCTCTTCTGAACATTTCATATAAGTGGTATCATACAGTATATGATCTTTTGTGATTACTTCTTCATATAGCATATGTTTTCAAACATTCACATTACAGTGTGAATCAGTACTTTATTCCTTTTTATTGCCAAATAATATTTCTTTTTTCTGAGACGGCGTTTTACTCTTTTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACCACAACCCCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCGCCACCAAGCCTGGCTAATTTTGTATTTTTTAGTAGGGAAAGGATTTCTCCATGTTGGCCGGGCAGGTCTCGAACTCAGGTGATCTGCCGCCTCAGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACCGCGCCCGGCTGCCACATAATATTTCATTACGTGGATAATACTACATTTTATCCATTTATTGGTTGATGAACATTTGGGTTGTTTCCATTTTTTGGTTATAATGTTGAACATTTATATGTAAGTCTTTGTATGTATGCACACACACACACACATATATATATATATATTTTTTTTTTTTTTTTGAGACGGAGTCTTGGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCTAGCTCCTGGGTTCATGCCATTCTTCTGCTTCAGCCTTCCAAGTAGCTGGGACTACAGGTGCCTGCCACCACGCCCGGCTATTTTTTTTGTATTTTTAGCAGAGATGGGGTTTCACTATGTTGGCCAGGATGGTCTCGATCTGCTGACCTCATGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCTGCACATATATTTCTAATTCTATTGGGTATATACCTGAGAGTAGAATTGCTGAGTCATATGGTCACTTAATGTTTAATCTTTTGAGGAACTGCTACACTGTTTTCCAAAGTGGCAGTCCCATTTTACAATCTTAGCAGTTTATGAGCGTTTATATTTCTTGTCAACATTTGTTATTATCTGTCTTCTTGGTTTTAGTTGTCTTAATAGGAGTGAAGTGATATCTTGTAGCGTTTTTATTTTTTAAGAGGCAGGGTCTCGCCCTGTTGCCCACATGAGAGTGCAGTGTTGCGATCATAACTGGCTGCAGCCTGTGTCTCCTGGGCTCAGGTGTTTCTCCTGCCTCAGTCTCCTGAGTCACTAGGACTACAGCTGTGCACTGCCTTGCCTAATTTTTTTTTTGTAGAGATAGGGTCTTGCTATGTTGCCTAGGCTGTCCTGGCCTCAAGTGNNN	pathogenic	311,038
Evaluate the clinical significance of the mutation at chromosome 20, position 3916912 in gene PANK2 (pantothenate kinase 2): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	benign	CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTG	CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTCCCCCTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTT	benign	311,043
Is the variant located on chromosome 20 at position 3916912, gene PANK2 (pantothenate kinase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.	benign	CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTG	CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTT	benign	311,044
Determine if the mutation at chromosome 20, position 3916955 in gene PANK2 (pantothenate kinase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Pigmentary_pallidal_degeneration']	GCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCGAGAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGG	GCCCGAACATCTTTTCATGTGTTTACTGGCCATCTGTCTGTAGTCTTTGGATAAATGTCTGCTGAAGTCTATTGCTAAGTTTTTAGTTGGATTGTCTTTTTATTATTGAGTTCTGGATACAAGTCCCTTATTAGATACATAATTCGCAAATGTTTTGTCCCATTTTGTTAGTTGTCTTTTCACTTCCTTGATGGTGTCCTTTGCAGCATGGAAATTTTAAATTTTGATGAAGTTAATCTTATCTATCTTCTGTCACTTGTGCTTTTGGTGTTATGTGTAAGAAATCTAAGATCATGAAGAATTGCCTAATTTAAGATCATGAAGAATTGTTTATTTTCTTTTAAGAGTTTTATAGTTTTAGCTCATATATATATATGTGTGTGTGTGTATTTTTTTCTTTTTTTCTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCACCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGTGCGTGCCGCCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATATTGTCCAGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCGCCAGTTTTAGCTCTTATATTTAGCTCTTATATTTGATCCATTTTGAGTAAGTTTTTGTGTATGGTGTGAGGTAGAGCTCCAAGTTCATTTCTTTTTGCGTGTGGATATCCAGTTGTCCTAGTACCATTTGTTGAAAAGATGATTCTTTCCCTGTTAAATTCTCTTGGCCCCTTTGTCAAAAATTAGTTGACCATAGATGTTTGGGTTTACTCCTGGACTCTTAAGTTATGTTCCATTGATATATATGTCTGTTTTTATACCAGTACCATACTGCCTTGATACTGTAGCGTTGTATTAAGTTCTGAAGTAAGAAAGTGTGAGTCATCCAACTTGTTCTTTTTTCGAGATTATTTTGGCTATTCTGGGTACCTTGAGAATATGAATTGTAGGGTTAACTTGGCAAGGTCTGTAAATAAGACAACTGGGATTTTAATAGAGATTACATTGAATCTTTTGGCCATCCTAATACAAAGTCTTCTGATCCAAAAAGATGGAATGTCTTCCCATTGATTTAGATCTTTGCTTTCTTTCAGCAGTGTTTTGTAGATTTTATTGTACAGGTGTTAATACTTTTGTTAGATATATCCGTAAGTGTTTTATTCTCTAATGCTATTATAAATGAAATCATTGTCTCCATTTTGAGATCGTTTAGAAGTACAATTGTTTTTCGTATATTGGGGCACATGGCTTTTACTAATAGAAAAATCATATGTATACATGCTTGTTTACTAAGTTTTAGGCACTTGGTCAATGCTGTTGATTTTCTGTTTGTAACATTTGCTCGTTGGTCATCACTTCCTTTTCTGATTGGAAAATTATTGTAGCAGTTCTGCTGAGCATGTACTTTGAAGTACTTTATCTTCTAGGGAAACCTGAAATTCTTAAGCAGCTCACTCTGGGACTCAGCTGTCTGTGCTTTACTCTGCTCTGATAGAGCAGTTTACCAGATGTGCATGTGGCCATCTGAGTGGAACAGCTGTGCAGTTGAGATGAATTGCTGTTAGAGGTGTTGTCCTGGAACTGTCTGGTTGCAGGAGCAATGGTGCCTTCCAGTGCATCTGATGAGATTCTAACTGAATATGTGAATATCTGGTATCCAAGCTAGATTTCAGTAGAAACCGCAGGGAAAGCTGTCTGCTCATTTAGAATGTTGGAGGGCTCTGTTTGAAGTTTGCATTTCTCTTTGAACAGATGCTCCATTGCAAAATAAAAGGTTTGAAGATTTCAACAATGTTGCCCTAAAAGCTAATTTTATTTCAATAAAGTAACATTCAAGTTCTGTTGGGCTTTGTTGCTGTTGGTTTAGCAATGGGATTTTTTTTCCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGCAGGCTGTCAGTAAAGAGGACCTGGCCAGAGCGACTTTGATCACCATCACCAACAACATTGGCTCAATAGCAAGAATGTGTGCCCTTAATGAAGTAAGGGGACATGGATTTCTTTAATTGCTCTAAGGAAAATACTGAACTTAAGTGGGCCCCATCACGTCTGTTTTCTCAGAACAGTGCCTAAATGTAGTCATTTGGGGTGGGGTTTGTTTTAGCACGAAGTTAAAACTCTTCAAATACAGATTAATCTTCTTTTTTTTTTTTTTAAACTGAAGATAAACATTGCTACTTGTCTAGAGGTAAAATGACATCTTTTGAGGAGAAAGTAGAGGAAGAGTGGAAGGTAGCCAGTGTTCCAGATATTGGGGACTGTTGGGGGTGATGATGGATAACGATGCTGAATGTAGACTCCACACTCACTGCTGAGCTCTAGAGGCCCTAGGGAGGAATCCAGAGGAAGTCACGGAAGCTGGGAGAAGACTGAGCAGGCCGAGGGGTGCCCTCCTTGGCTCCCCCACCTCAGCAGAGCTGCGTCTTTGTGCTTTCAGCTTCTTTACAGTGCTGCCTTGTAGCATTCAGGTCAAGCAGCATTGTACAGGGCTATGAAAGAACCAAGAATGGGCTGCCCTTGGGAAAAGAGGATCTAGGATCCAGTTGGTGCAGCTTATGGCTTGTCCCTGTGTGTATAGTTGTTAAATTATTCTTTTATTTTTATTTTTAAGAAGTTATTCTTTAGATAATAATAGGCATGTAGCTTAAAAGGAAACCTCAAAAGACACAAAGGATTTGTCTCATTTTAAATTAAAAAAATACTGTATCAGCATCAAGTAATTAAACATTTGTTGGAATATCATAACTTCTTTTTTCTTTATTGTATGTTCCCTTTCCTGTGCTTACGTATTTTCAGAAATTTTAGTTGGTGTGCATACCACAATTTGTATTTTATACTTAAATATACATTTCATGGTTGTATATTTATTTGATCAAGTTCTTTTATATCAAATAACAGAGCTTGGCATTTGGTTGCTTGCTCATAACTCGGCAGTAAGCATTTTTAAGCATGAAGTTATTCTTTGGTTGAATTTTATTCTTGATATGGGGCTTAGGAGTGAGATTTCTGGTCTACAGAAATGATCATGCTCATGAATTTTGACATTTATCGTCATGATGCTTTGCACAAGGGCTGCACCAATTTAGATCATCTTTAGCGGTGAATGAGTGGATTAATTTTACTACAACTACTGATGGTGGTGGTGGAATTTCAGTTGCTTTTTTTTGCGAGGTTAATAGGTCTAAAATTTTACTTTTGTTTGATGACTAGTGGTTTGAATTTTTCGCTGCCTGTTATATTGCTTGTATACTTTGCCTGTTTGTGTCACTGTCCTTTTGGATTGGAGTCATACTGTTTTTTTTTGTTTATTTTAACTTATCTGTATAAAACATTGTATTCAAAACTAGTTATTGTTGGTCAGATTTAATACAAATGTTTTTCCTAATCTGTTTTCTTCTCCTGTGACATTATCTAGCATGCTTTGCAGTGGGTCCAGAGTTGTCTGGGGATCAAGTTTAAGTAGCCCTGGACCAACTGGACTAAATTTGATCAGCAGTCAAATTGTTGCTAAGAGCTATGCACATGGTGCTGTATTTGGGGTAGCTTTTATGAGAAAATAGAAATTAAGATGAAAACTAATTGCCTTTTTTTGGTGTGCTCAGAACATTAACCAGGTGGTATTTGTTGGAAATTTCTTGAGAATTAATACGATCGCCATGCGGCTTTTGGCATATGCTTTGGATTATTGGTCCAAGGGGCAGTTGAAAGCACTTTTTTCGGAACACGAGGTAAGCTGACTTGTTCGTTGTGGTATATTATGTACACAGAGGGCTTGTGGGTCACACTGTCATGGAACTTGAGGTAGAGGGTGGAGGTGAAATGGGCTGCAGTGTTTCTTTTGTTTTTTGTTTTTTTGAGACGGAGTCTCGCTCTGTCACCTAGGTTGGAGTGCGTGGCACAGTCTTGGGGCTCACTGCAGCCTCCGCCTCCTGGGNNN	pathogenic	311,046
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 20, position 4699379, gene PRNP (prion protein (Kanno blood group)). What disease(s) is it linked to if pathogenic?	benign	ACCAAACTCCCGCCCTAAAGGAGCCTGCACTCCCGTGGAGAACATGAATAATAAGCACAGAGGAAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGT	ACCAAACTCCCGCCCTAAAGGAGCCTGCACTCCCGTGGAGAACATGAATAATAAGCACAGAGGAAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTNNNNNNNNNNNNNNNNNNNNNNNN	benign	311,061
Chromosome 20, position 4699442, gene PRNP (prion protein (Kanno blood group)): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	benign	AAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATAT	AAATAACATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATNNNNNNNNNNNNNNNNNNNNNNNN	benign	311,064
Chromosome 20, position 4699448, gene PRNP (prion protein (Kanno blood group)): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	benign	CATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTA	CATAATATCTCAAGTAGCTGTAACTGCTCCAGAGAATAATGAAGCCAGGAAAGGGGGTGGGCTAGGGGGTGCTGTTTTAGGTAGAGTGATGGGAACAGCCCCACTGAGCAAACTTTAGCCACATGAGTAGCTGGAAGAAAAGCCTTCTAGGACCAGGGAACAGCAAGTGCAACAGCCCTGAGACAGGATGGGCTTGTCAGTTTGAGGAGCAGTGGGAGGCCTGAACCAGGTTACATGGGGCCCAGCCAGTATGGCCACGACTTTGTGTTTTATCCAGAGTACAAAGGAGCCTCACTGAGGGACAAGGGAAGTGGCATGATGTGACCCGCATATTAAGAGGAGAGCGCTCAATGGCAGCCAGGGGAGGAGCAGGGAGGCTGGTTGGGAGGCTGTTGAAGAAATCAGGTGAGAAGTGATGGAAGCACCGAATAAGATGGTCATGTTGGAAAAATTGAGAAGCTGAGGTGCTTAGCATTGATTTTCAAGGTAGAGCTACTGAGATTTGCTGATAGATCCAATGTATGCTGGGAGAGAAAATTCAGTCACTCTAGAGCATTGGCTGGATTTGTCACCCATTGCAGCGAATGGAGAAGGTGCTGACATAAAAGCCCTTTAGACTGAAAGCTACTGACTGAGGGGATGGTGCCCTAGTTTGATTTCCTGGGGTGTATGAGTAGCAGGGAGGCCAAGAGCTGGGCCTCACGAGATTGTGGGGACTACATCAGGGAAGCAGGCCTGCAAAGAACCTGCACCACAGACCCCCACCTAAAAGAGCCTCCAAAAACCCTAACTGGCATGACCTGAGTACTTTAACTCTGCTTGTAACTTTCAAATATATTTTGATTTGCTTATGACCACCAAGGCAAAACTTCCCATTTCAATAATGTTAGTAGAAACATAAACAGGATGTTAATTTATTTATTTGGTAATTCTTTTTATGAATATTATCCAGTTTAATCATTAGCTCTGAAGGAGATGAAAAATAATTTTCTAATTTTTAGAAAAATTTGCAGCTAATTGGGTGATAAAGGTAAGGGGTTTCTGAGTTCACAAAAATGTTCTAAAATTGGCAACAGTTTCGGTTGCACGTTTCATTAAATGTACTAAAAACCATTGAACTGTACATGGTATATGGTGAATTATATGGTATGTGAATTATATCTCAACAAGCTGGGTATTGTTTTTTTAAAAAATAAAAATAAAAAAGGAGAAAGAGAGAGAGAAAAACAATTGCAGATCATCCCAGCACTGAGGACAAGACTAACTTCAGTGTTCCAGTATATGCCATTATAGGTTTTACGGCACACAGTGATGATTTGGAGCCTATGATTTGACCTAGGGTACAGCAGGTACTGTTTAGCAATCATTTTACTATTGTCATAGGTCTCTGCTCTTGGAGCTAAGTGCCCAGGGTAAATGAGATCTTTAATTTGAAAAGAGATTTTTGATTTGATGAATGTACATTCTCCAAAGGGTCATAAATTGTCATTCTGGATGTTTGATCTGTTTGTTGTTTTGGTACAAAAATTAGAAGAAAATAATTCACTCATAAAATGTTAAATAATGAACTAAAAGTCATTCATCAAGTCCATAACTTAGGGTCACATTTGTCCTTGGAGCAGGAGAAAGAGTTGTGTTCACCCTTTTCTTACTTTTGCTTTTGTCCTAAGTGCTTCAGAGAAGTACAGGGTGGCAACAGTGTTTCTACTGAGCAGCTGATACCATTGCTATGCACTCATTCATTATGCAGGAAACATTTAGTAATTTCAACATAAATATGGGACTCTGACGTTCTCCTCTTCATTTTGCAGAGCAGTCATTATGGCGAACCTTGGCTGCTGGATGCTGGTTCTCTTTGTGGCCACATGGAGTGACCTGGGCCTCTGCAAGAAGCGCCCGAAGCCTGGAGGATGGAACACTGGGGGCAGCCGATACCCGGGGCAGGGCAGCCCTGGAGGCAACCGCTACCCACCTCAGGGCGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGTCAAGGAGGTGGCACCCACAGTCAGTGGAACAAGCCGAGTAAGCCAAAAACCAACATGAAGCACATGGCTGGTGCTGCAGCAGCTGGGGCAGTGGTGGGGGGCCTTGGCGGCTACATGCTGGGAAGTGCCATGAGCAGGCCCATCATACATTTCGGCAGTGACTATGAGGACCGTTACTATCGTGAAAACATGCACCGTTACCCCAACCAAGTGTACTACAGGCCCATGGATGAGTACAGCAACCAGAACAACTTTGTGCACGACTGCGTCAATATCACAATCAAGCAGCACACGGTCACCACAACCACCAAGGGGGAGAACTTCACCGAGACCGACGTTAAGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAGTACGAGAGGGAATCTCAGGCCTATTACCAGAGAGGATCGAGCATGGTCCTCTTCTCCTCTCCACCTGTGATCCTCCTGATCTCTTTCCTCATCTTCCTGATAGTGGGATGAGGAAGGTCTTCCTGTTTTCACCATCTTTCTAATCTTTTTCCAGCTTGAGGGAGGCGGTATCCACCTGCAGCCCTTTTAGTGGTGGTGTCTCACTCTTTCTTCTCTCTTTGTCCCGGATAGGCTAATCAATACCCTTGGCACTGATGGGCACTGGAAAACATAGAGTAGACCTGAGATGCTGGTCAAGCCCCCTTTGATTGAGTTCATCATGAGCCGTTGCTAATGCCAGGCCAGTAAAAGTATAACAGCAAATAACCATTGGTTAATCTGGACTTATTTTTGGACTTAGTGCAACAGGTTGAGGCTAAAACAAATCTCAGAACAGTCTGAAATACCTTTGCCTGGATACCTCTGGCTCCTTCAGCAGCTAGAGCTCAGTATACTAATGCCCTATCTTAGTAGAGATTTCATAGCTATTTAGAGATATTTTCCATTTTAAGAAAACCCGACAACATTTCTGCCAGGTTTGTTAGGAGGCCACATGATACTTATTCAAAAAAATCCTAGAGATTCTTAGCTCTTGGGATGCAGGCTCAGCCCGCTGGAGCATGAGCTCTGTGTGTACCGAGAACTGGGGTGATGTTTTACTTTTCACAGTATGGGCTACACAGCAGCTGTTCAACAAGAGTAAATATTGTCACAACACTGAACCTCTGGCTAGAGGACATATTCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGGAATGGTGCCCTTGGAGGCAACCTCCCATTTTAGATGTTTAAAGGACCCTATATGTGGCATTCCTTTCTTTAAACTATAGGTAATTAAGGCAGCTGAAAAGTAAATTGCCTTCTAGACACTGAAGGCAAATCTCCTTTGTCCATTTACCTGGAAACCAGAATGATTTTGACATACAGGAGAGCTGCAGTTGTGAAAGCACCATCATCATAGAGGATGATGTAATTAAAAAATGGTCAGTGTGCAAAGAAAAGAACTGCTTGCATTTCTTTATTTCTGTCTCATAATTGTCAAAAACCAGAATTAGGTCAAGTTCATAGTTTCTGTAATTGGCTTTTGAATCAAAGAATAGGGAGACAATCTAAAAAATATCTTAGGTTGGAGATGACAGAAATATGATTGATTTGAAGTGGAAAAAGAAATTCTGTTAATGTTAATTAAAGTAAAATTATTCCCTGAATTGTTTGATATTGTCACCTAGCAGATATGTATTACTTTTCTGCAATGTTATTATTGGCTTGCACTTTGTGAGTATTCTATGTAAAAATATATATGTATATAAAATATATATTGCATAGGACAGACTTAGGAGTTTTGTTTAGAGCAGTTAACATCTGAAGTGTCTAATGCATTAACTTTTGTAAGGTACTGAATACTTAATATGTGGGAAACCCTTTTGCGTGGTCCTTAGGCTTACAATGTGCACTGAATCGTTTCATGTAAGAATCCAAAGTGGACACCATTAACAGGTCTTTGAAATATGCATGTACTTTATATTTTCTANNNNNNNNNNNNNNNNNNNNNNNN	benign	311,067
Variant at chromosome 20, position 5314311, gene PROKR2 (prokineticin receptor 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Hypogonadotropic_hypogonadism_2_with_or_without_anosmia', 'Hypogonadotropic_hypogonadism_3_with_or_without_anosmia', 'Inborn_genetic_diseases', 'PROKR2-related_disorder', 'likely other unspecified diseases']	CGCCCAACTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCACCCGGGCTGACTTTGTGTCTTTCCATCAAATGATACTTTGCACCATTTTCCCTGGAGAATTGTGTGCAGTTGGTTGATAGGTACACATTTCATAAGGGATGGTTTCAGGGCTGGTGAGCCTGAGTTGTAGCAAAATCGTTTTTCCTGCAGAAATTATGTTATACAAAGGAAGGAGGATGCTTCCTACACCCGTCTGTGTATTTTATTACTAAAATGAAAAATATTAAACTGGCTGAATAAAGAGAAAAAATCTAAGCAGCACTGAGAACAGGGGAAAAATTTAAGAGTTGAAAAGATGAAAGGAAAAAAGATGACTAAGCAGATCATCCTAATGAGCACAGCTTACAATGGTGGACAGCAACCAAGAGAAGGTGACCACTGCCCCCTCGAACAGAGCCAGTGATGGCCCGATGCTGGCCTGCAACTGTTCACATAAACAAAATGTGTGTAAGATTTGTCATAAACTGCTATTATACATTTTACTTTATAAATTTAAAATAGAGCAAGGGCTGGTGACGAGGAATAAGTTCTAGTGTTCTACAGGTCTATAGGGTGAATATAATTACCACAATTTATTATATAATTTCCAAATAGCCAGAAGAGTGGATTTTGAATGTTTCCAACACAAAGAAATGATAAACATTTGAGGTGATGGATATGCTAATTACCTTGGTTGATCATTACACATTGTATACATACATGCATAGAAATATCACTCTGTATGCCATTAAGTATTTACAATTATTATGTGTCAATTAAAAATAATAAAAGCAAAAAATAAAATAATAAATACATAAAGGAAAGGAAAAAATAAAATAGAGCAAGGACTTCTGGAAATATCTCATGCAAATGTATGCAAATGAGCACACCAACATATGCAGAAAAGCAAAAGCAAGCGTGTCCTTTCCTCTTTTGCACAAACAAACCCTGTTATCTTATTTTAAAATGAGCTCTGCAACAAAGTCTATCAGAAACAACAGCACATACGTTATGTTTTTTTATGACATTAAAGAACAGGTGAAACTGAACTGTAATGATAGAAATCAGATTGGTGGTTGCCTGGTGGGGGAGGATTGACTGGTGAGGAGCACAGAAGGTTCTCTAGCTGATGGAAATGTTTCACATCTCCACCTGGAGGGTGGCTACAGGAAAAGCCTAGTACATGTTTTCCTGACTGGAAGCTGCCCTAGTTAACTCTCATGTGGCTTCTAGGTAGTAGCTGCCTGCCCTTTCTGCTTTCCCTTTGTGTTGGTGCCACATACTGTCATGTGGCATGCCTGTATCTGAAGCACATGTGGTATCTGGGGGCATGGCCCAGAGATGGGCCACTCAGCAGCCCCAGTCTTGCTCACATCTGGGGGAACAGAACTCAACTGGAGAAACAAGACCTCCTCTTGCCCTCCAAAGATTGGTGAGCATTCCTATCTGGAGCAATGTCAGCCTGTCAGAGCCTAAATGAGGAAAGAGACAGCCTGGCCCAGCCCCACCACTCACCCCACCCACCATCCTCACCTGTCAATGGCAATGGCCAGCAAGGCATTGGTGGAGACGTAGAGGGAGACGGTGCGCAGGTAGTTGACGGAGGCACAGAGCACGTGGCCATGCTCCCAGGAGAGCTGCCGTACCACGTAGTAGTCCATCTCGAAGGGGCAGCAGATGATGGCCACCAGGAAGTCGGAGATGGCCAGGTTGGCAATGAGCAGATTGGTGAGGTTGCGCAACTTCTTATAGCGGGTGAGGGCAGCGATAAAGACAAAGTTACCGATGCCGCAGACCAGCATGATGCCTGCCAGTGCAATGCCAATGACGATCTTGGCTGCGAAGAAGGTCCGGGTCTTGGTCATGTCCTCATCCTCATCCATAGGGAGGTCATAATCACCATAACTGAAGTTAAAGGAGAGGGAGGAGGCATGGTCTTGGGGTGGATTAAAGTTGGGTGTGAAACTGGTGTTTCCATTCTGGGCTGCCATGGTGATGTCTGCAAGAAAAGTGGTGTGAGGGAGGTGCGAGGGGTGAGGGTCCAGACCTTCTGCTCTTTCAGGGTCAGTGAGCCTAGCACCCTGCCCACATCCTTGGGGAGAGTTGACTCACCGTCCTGGATCCTGGAAGGAGGCACAACCAGTGGGCAACATGCAGGAGAACATCTGGTCACATTCCCTGAGTTCCCCAAGTATAGGCCAACCAGACCCACTGCCTAACCAGATGGAACTACCCGGGATGCGGGGAGAGGAGACCTGAGATCTGTAAGTTGGGAAACCCTCCGTGGCTGCCCAGCTGTCAGGAAGGACAGCATAGGATGGATCAGACTGTCCAGAACTCTCAAGAAGAATGTGCACCTTTGCCCTTTGCCCAGGGGCCAGGGCCTCTTTGTCTGCCCAGTCACATCCTCCAGCCCCCAACACATCAGCTCCCACAGGGGCTTCTGGAACATTTCCAAGGATGCTCCCATGAGCTGGCCAGGCTCCTACAGCTGTCACAACGTTGTGGCACCTGTTGGCCAGGGACAATGAAGCAGGAGGGCCAGGATGCTGCGGGGTCTTCTCTCCAAAGCAGGACACCACTCCTTCTGTACTGACCAAGCCATAGACTTGGAAATCACCAAGTTCACTTTCACATGGACAGACTGAGTCACCCTGGGCCAGTGATTTATGCTCTCTGAGTCCTAATCTTCCTGTAAACCAAATTCCTGCTGCCCAGTCCAGTGCCTGGTGCATAGTGGGGGCTAGACAGACATCTGTTGAGTGCATGACCAGGGCGCTGTAGGTGGAGGAGGTGGTGGTGGGGTGGGGGAGGGGAATTCCCCTGCTGCTCCCCGTTCTGTGGGAACCAGCTCCAGAAAGAAATCCTCTGCCGCCCTTCCCACCCTACTCCAACTTTGGATCTGCTCTCTGACCTCCTTCACTTGGCCCTAGTTCTCCACCCAGAGTCAACCCTGCCTGAAAGGCACCATGTCCTGTCACCAAGGTCTCAAAATAGGGAAAATAGTCTCTGAAGCCCTCAGCCCGCAGGAGATAGGGCACCCCAGGGTACAAGGCTTCACCGAGGGGCTGGAAAAAGAGCCCAGATCCCAACACCTATAGAAAGGGGCCCTGGCTGTCCAGCTGTGAGTGGCCTTCCCCTCGCCTCTCAGCACACCTGGAAACGACTCCACATGTGGGCGCCGCGGGATGCTGGGTAGCAAGGAGATGACCCAGCTGAACAATGCATTTGGTCCACTCCTGCGAGGGGAGGAGAACGCCGAGGGACAGGAACTGCGCGCCAGCAAAAGACACCCTAACCTGGGGTGCGCCCGCCAGCTGCTTTCCCAAGGTGAAAACCTCCAAGAGGCGAGATGCAAATCCCAGTGGCGTCCACACCCGGAGGTGTCTTCTCTCCAGGTCGCCCCTCCGTCTCATGCGACACCCCAATCCCCGCAGCCTCTGCTCAGCGTGGGACCAAGAATGGGGAGTCCTACCCCTCCTCGGCTTTCCAGCCCCCTAACCCAAGACAAGAGGGCGCGCGCCCGGGCTGGGACAGGTCCCAGCCGCATTTTCGTAGATTGCACTCCCCGCCCGGGAGCGACCCGTTCCAGCAGCCCCCTTCCCGCCCCATCAACGCGGCCGCACTGTCGGCGTCTAGAGGCGACATCCTGGCAAAGACAGGAATCAAGTCAGAAATTCAGGCTCTAGAAGCAAAGGCTGCGGTGCCTCCTGGCTGGAAGAAAACGGCGGGTGGGTGGAGGATGCGGTGCGCGGGAATTTCCCCACGGACGCTTGCTGTTTCCTGCTCACCTTTCAGGAAGGTGCCCCTCTACCTGCACCCTCCCCTGCAATTTGGAGCTCGTCCGCGAGCTCAGCTACCCGCTGGCTCCCTCTGCCCGCGCCCGCACACCACAGACTCCGCTTACCGTACCCTACCCGGTCCTAGAGGGCCCAGAGGGGATCTCCTGAAACCAACTCGCCTGCTTGGAGCCAGCCCCG	CGCCCAACTAATTTTTGTATTTTTAGTAGAGAAGGGGTTTCACCATGCTGGCCAGGCTGGTCTCAAATTCCTGACCTCAGGTGATCTGCCCGTCTCAGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCGCACCCGGGCTGACTTTGTGTCTTTCCATCAAATGATACTTTGCACCATTTTCCCTGGAGAATTGTGTGCAGTTGGTTGATAGGTACACATTTCATAAGGGATGGTTTCAGGGCTGGTGAGCCTGAGTTGTAGCAAAATCGTTTTTCCTGCAGAAATTATGTTATACAAAGGAAGGAGGATGCTTCCTACACCCGTCTGTGTATTTTATTACTAAAATGAAAAATATTAAACTGGCTGAATAAAGAGAAAAAATCTAAGCAGCACTGAGAACAGGGGAAAAATTTAAGAGTTGAAAAGATGAAAGGAAAAAAGATGACTAAGCAGATCATCCTAATGAGCACAGCTTACAATGGTGGACAGCAACCAAGAGAAGGTGACCACTGCCCCCTCGAACAGAGCCAGTGATGGCCCGATGCTGGCCTGCAACTGTTCACATAAACAAAATGTGTGTAAGATTTGTCATAAACTGCTATTATACATTTTACTTTATAAATTTAAAATAGAGCAAGGGCTGGTGACGAGGAATAAGTTCTAGTGTTCTACAGGTCTATAGGGTGAATATAATTACCACAATTTATTATATAATTTCCAAATAGCCAGAAGAGTGGATTTTGAATGTTTCCAACACAAAGAAATGATAAACATTTGAGGTGATGGATATGCTAATTACCTTGGTTGATCATTACACATTGTATACATACATGCATAGAAATATCACTCTGTATGCCATTAAGTATTTACAATTATTATGTGTCAATTAAAAATAATAAAAGCAAAAAATAAAATAATAAATACATAAAGGAAAGGAAAAAATAAAATAGAGCAAGGACTTCTGGAAATATCTCATGCAAATGTATGCAAATGAGCACACCAACATATGCAGAAAAGCAAAAGCAAGCGTGTCCTTTCCTCTTTTGCACAAACAAACCCTGTTATCTTATTTTAAAATGAGCTCTGCAACAAAGTCTATCAGAAACAACAGCACATACGTTATGTTTTTTTATGACATTAAAGAACAGGTGAAACTGAACTGTAATGATAGAAATCAGATTGGTGGTTGCCTGGTGGGGGAGGATTGACTGGTGAGGAGCACAGAAGGTTCTCTAGCTGATGGAAATGTTTCACATCTCCACCTGGAGGGTGGCTACAGGAAAAGCCTAGTACATGTTTTCCTGACTGGAAGCTGCCCTAGTTAACTCTCATGTGGCTTCTAGGTAGTAGCTGCCTGCCCTTTCTGCTTTCCCTTTGTGTTGGTGCCACATACTGTCATGTGGCATGCCTGTATCTGAAGCACATGTGGTATCTGGGGGCATGGCCCAGAGATGGGCCACTCAGCAGCCCCAGTCTTGCTCACATCTGGGGGAACAGAACTCAACTGGAGAAACAAGACCTCCTCTTGCCCTCCAAAGATTGGTGAGCATTCCTATCTGGAGCAATGTCAGCCTGTCAGAGCCTAAATGAGGAAAGAGACAGCCTGGCCCAGCCCCACCACTCACCCCACCCACCATCCTCACCTGTCAATGGCAATGGCCAGCAAGGCATTGGTGGAGACGTAGAGGGAGACGGTGCGCAGGTAGTTGACGGAGGCACAGAGCACGTGGCCATGCTCCCAGGAGAGCTGCCGTACCACGTAGTAGTCCATCTCGAAGGGGCAGCAGATGATGGCCACCAGGAAGTCGGAGATGGCCAGGTTGGCAATGAGCAGATTGGTGAGGTTGCGCAACTTCTTATAGCGGGTGAGGGCAGCGATAAAGACAAAGTTACCGATGCCGCAGACCAGCATGATGCCTGCCAGTGCAATGCCAATGACGATCTTGGCTGCGAAGAAGGTCCGGGTCTTGGTCATGTCCTCATCCTCATCCATAGGGAGGTCATAATCACCATAACTGAAGTTAAAGGAGAGGGAGGAGGCATGTCTTGGGGTGGATTAAAGTTGGGTGTGAAACTGGTGTTTCCATTCTGGGCTGCCATGGTGATGTCTGCAAGAAAAGTGGTGTGAGGGAGGTGCGAGGGGTGAGGGTCCAGACCTTCTGCTCTTTCAGGGTCAGTGAGCCTAGCACCCTGCCCACATCCTTGGGGAGAGTTGACTCACCGTCCTGGATCCTGGAAGGAGGCACAACCAGTGGGCAACATGCAGGAGAACATCTGGTCACATTCCCTGAGTTCCCCAAGTATAGGCCAACCAGACCCACTGCCTAACCAGATGGAACTACCCGGGATGCGGGGAGAGGAGACCTGAGATCTGTAAGTTGGGAAACCCTCCGTGGCTGCCCAGCTGTCAGGAAGGACAGCATAGGATGGATCAGACTGTCCAGAACTCTCAAGAAGAATGTGCACCTTTGCCCTTTGCCCAGGGGCCAGGGCCTCTTTGTCTGCCCAGTCACATCCTCCAGCCCCCAACACATCAGCTCCCACAGGGGCTTCTGGAACATTTCCAAGGATGCTCCCATGAGCTGGCCAGGCTCCTACAGCTGTCACAACGTTGTGGCACCTGTTGGCCAGGGACAATGAAGCAGGAGGGCCAGGATGCTGCGGGGTCTTCTCTCCAAAGCAGGACACCACTCCTTCTGTACTGACCAAGCCATAGACTTGGAAATCACCAAGTTCACTTTCACATGGACAGACTGAGTCACCCTGGGCCAGTGATTTATGCTCTCTGAGTCCTAATCTTCCTGTAAACCAAATTCCTGCTGCCCAGTCCAGTGCCTGGTGCATAGTGGGGGCTAGACAGACATCTGTTGAGTGCATGACCAGGGCGCTGTAGGTGGAGGAGGTGGTGGTGGGGTGGGGGAGGGGAATTCCCCTGCTGCTCCCCGTTCTGTGGGAACCAGCTCCAGAAAGAAATCCTCTGCCGCCCTTCCCACCCTACTCCAACTTTGGATCTGCTCTCTGACCTCCTTCACTTGGCCCTAGTTCTCCACCCAGAGTCAACCCTGCCTGAAAGGCACCATGTCCTGTCACCAAGGTCTCAAAATAGGGAAAATAGTCTCTGAAGCCCTCAGCCCGCAGGAGATAGGGCACCCCAGGGTACAAGGCTTCACCGAGGGGCTGGAAAAAGAGCCCAGATCCCAACACCTATAGAAAGGGGCCCTGGCTGTCCAGCTGTGAGTGGCCTTCCCCTCGCCTCTCAGCACACCTGGAAACGACTCCACATGTGGGCGCCGCGGGATGCTGGGTAGCAAGGAGATGACCCAGCTGAACAATGCATTTGGTCCACTCCTGCGAGGGGAGGAGAACGCCGAGGGACAGGAACTGCGCGCCAGCAAAAGACACCCTAACCTGGGGTGCGCCCGCCAGCTGCTTTCCCAAGGTGAAAACCTCCAAGAGGCGAGATGCAAATCCCAGTGGCGTCCACACCCGGAGGTGTCTTCTCTCCAGGTCGCCCCTCCGTCTCATGCGACACCCCAATCCCCGCAGCCTCTGCTCAGCGTGGGACCAAGAATGGGGAGTCCTACCCCTCCTCGGCTTTCCAGCCCCCTAACCCAAGACAAGAGGGCGCGCGCCCGGGCTGGGACAGGTCCCAGCCGCATTTTCGTAGATTGCACTCCCCGCCCGGGAGCGACCCGTTCCAGCAGCCCCCTTCCCGCCCCATCAACGCGGCCGCACTGTCGGCGTCTAGAGGCGACATCCTGGCAAAGACAGGAATCAAGTCAGAAATTCAGGCTCTAGAAGCAAAGGCTGCGGTGCCTCCTGGCTGGAAGAAAACGGCGGGTGGGTGGAGGATGCGGTGCGCGGGAATTTCCCCACGGACGCTTGCTGTTTCCTGCTCACCTTTCAGGAAGGTGCCCCTCTACCTGCACCCTCCCCTGCAATTTGGAGCTCGTCCGCGAGCTCAGCTACCCGCTGGCTCCCTCTGCCCGCGCCCGCACACCACAGACTCCGCTTACCGTACCCTACCCGGTCCTAGAGGGCCCAGAGGGGATCTCCTGAAACCAACTCGCCTGCTTGGAGCCAGCCCCGN	pathogenic	311,130
For chromosome 20, position 6077394, gene FERMT1 (FERM domain containing kindlin 1): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	benign	AAAATAATAGAACTGAGAAATAGGACTGAGAAATGACCAACATCAAGTATATACGGTACACTTAGCACTTGTTTCTATAGAAAACATTTCAAATCAAGTTCTTTATGATGTGAACCAGATTTTCCAAATGCCTAAACCACTTCTGAGCTTTAAGCAAGGCCTCAGAAATTCAGCGGGTGCCTGGGAGGCTTCATTCACATTCACCTCTAAGGAGAGGCTAAAAGAGGAATTTCCAGATGGCAGCTACTGGCTCAGAACCAGGGGGTCCCTTGCCAAGTCTGTCTCTATGTGGCTCCCGGAATTGCTGAGGTCTCACTTCTCAGAGGGCTTTGATGGAAAATAAAGCAACAGCTGACGCTCACGGGCCTCGGAACTCTGGCCAGGCTCCCTGAGGGGTGCATCCTAGGAGAACTGAAAAATGGGATTGGAGCTTTTGCCTTATCCTTACACCCCAAGTTCTTTGTGTGGCAGAACATCTATGAAAAAATAATAAAATATTGTCTGATATTTCCCTTTACTTCTGGTATTGCTTTTGACCTTCTCAAAACCCACCCCTCCCACCTCTAACAAACCAAAATGGAAAATGACAATTCAGGCAGCTGTTAATTGGCTCACTCTCTCAAGGCAAGCACTGTCTCAAGGCAGTCTCAAGGCAGAGATGACACAGCAAAAAACAGAGGGGGAGAAAAAAGTCTATTATTGGCTTGTGATTTACAAAAGCCAAAGTCCTTTAGATAAAAGGCCAGGAGTCGTACCAACATAGATACCAAATCCAGGAGAACACAGACCAGCGATAAGAGGGACGCTTCCCCATGACCCAGACCAGCCTAAAGCCCCTGTGGGGGCAGCCAGTGGGGAGCTGTCAGACCTTGGACATGGTGGTCTTTGAGAATGGGTCTGCCCTTCTCTCCCTGACCAGTTGGGATAGACACCTGACTGGAATCCTTGACACTGGCAGGTGTTTCTATGAACAGAGAGGACTGTGCCTGTCTTCCTGAATCCCAACCCAGAGTAGAAGCAGTGGAGACATGGATCTGGGTTGAGAAATGGGTTTTCCTGTCCCCCTGTGTCACCCACATCTTCACAAAGGACTTACAGGTGGCTGAGAGATCTGTAGGAATGGAATGGGGCTTGCAGGTGGCCCCAGAAATCTGAGGAGACCAATGACTAAGACCAGATGTGGGTCAGTGGTCATCTTGGCAGGTATCACTGTGGACAGATGACACTGAGGGCCACTCCTCTGACCTTGGGTTGTCAACTGCTACCTGGTAGCCCCACCCCTCCCCTTTCTACCCCTAGACCTTGGCCTCCAGGGAAAAAGTGTGTGTAGGAACTCCCTCTGCCATTTTGAAAAGACAGGAGCTAAAAGCAGTTCCATGAAGGACAGGCGTTTCGTTTCATACCTGAGTTTGTGAAATAAGAGTTGTTCTTGCTACACGTGATTTTTACCTTTCTGTCTTCTCCATTGACTTAGTAATGAGACAGATCAGCACGAGGATAACTTGTAGCCATACACCTGGCAGGTTCTGCAAGTCAGAGAACTGTAACCACATGCTGGGCCTTAGAGCAATCTTAGGGCACCTGCTTTTCTCCTGCCTACCCATTTTATAGAAAAAACAAGAGAGGCTCCTTCCGTGGCTGGTAGCACAGGGCAAAGTAAGGAAAGGGATGTGCCAGCAGTGGGTTTGAATGAGGATCTGGGTGACCAGCGGTGAATGTATGTTGTCTGTTAGTCCAGAATCTACATGCTGGGCACGTTAGGGATCCCTCTGGGGAGGGGCGCCTTTGGCTTGCCTTGTTGGTGTGAGCCGAGCACGCGTGCTTGTTTCAATCCTGACCGCCGGTCAATTTGTGGAACAAGTCCTCATCGAGTGTTTCATTCTGGTCCTTGGAGCGGGTGGACAAGAAAATGTAGCCGCCAATGTACTCGTGCACAATCTTGCAATCTGCACTCAGGCAGGTGAAAGCAGTAAAGACGTTTTGGTCAAACTCGATGACCACCTGGAAGAGGAAGGCACAGAGAAGCTTAAACTCTGACAAGGAATGATGAAAAAAAAAGTGCTTTGCTGGACTGGCCCCTGGAGCTGAGGGCTGCTGAGGTGGATAACAGATGGATATCCCTCTAAAACACACAGAAAACCATCACTTCCATTAAACGCTTCCAGAAAACATCTTTGCTCTCTTTGCGCCCTCTGGTGGTGTCGACTTTGCTGCACGTCTGGTTAAAAAAACTCCCAACACATTTTCTGTCTACAGTTTAGATACAAGGATTTTGCCCAAGCACTCTCTGTCTCCCTGTGTTGAGGGGCAGGGTGCTTCGCAGGCACTTTATTTTTATTTTTATTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGGGTACAGTGGCACGATCTCGGGCCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAGTGATCCATGCCTCGGACCCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCACCCGGCCTGCAGGCTCTTTAATGAATAAAAGTCTGCCTGAATTTTCCTACAGCCACTGCCCGGAACCCTTTCCTAGCTGCAAGTCATAAACTCTAAGCACTAGAAGAAAGACTTAGAGACTTTGCTGGTTCACAACCTTGGCTGCCCATTGAAATCACTTGTGGACCTTTAAAAATTACTAATGGTTCGTTCCTCCTCCCAGAGATTCAGATTTAACTGGCCTTGGGTGTGGTCTAGGCAGTGGTGTTTTAAAGCTCCCCAGGTGATCCTAATACGCATCAAGGCTTTAGAGCTACCGCCTTAGAGGTCATCTAATCTCTGAACTTGATTTTACAAATAAGCACCCAGATGATTATCAACACTGCTGAGAGGAAGTCAGGGTTCTTAACAAATGTGTGGGTCTCTTACCATCCCTCTACGTCAGTGACTTTCTATTGGAAAATGAGAATGCCAAAGGAATGAGGGAAGATTGAGTCTGTATCAGCAACATCTGAATGTTTTAATTAATTCAAGAATGAATGAAACAGGGTCTTGCTTTGTTACCCAGGCTGGAGTGCAGTGGCACAGTCACTGCTCACTGTAACCTCGAACCTCAACTGATCATCCCTGGCTGAGTAGCTGAAACTACAGGTGCACACCATCACACCTGGCTAGTTCAGCGTTTTTTTTTTTTGTTTTTTTTTTTTTTAATTTTCTGTGGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTCGAACTCCCAGCCTCAAGTGATCCTTCCCACCTCGGCCTCCCAAAGCACTGGGCAGAATGTTTTAAATTAGCGGCAGGATGCTAAGCTGCCTCTAACTTCATCTGGAATTTTCCATGATACAGGCTTGGCCTGAACTTAGCTCCTAGGATGGGAGATGATGGGAGGCTGTAACATAGGCTAGGGGTTTGAGGGCTCCTGGTTTTAAGAGGTGAAGCTTTTCTCAGTCATCACTATGGACCTCACTTTCTTCTTCAGCAGTTTTTCCCTTTTGGGCCTGGAATGCTCTCCAGGTGAGCAACTGAATCTTCCAGTCCTCCATCGGGTTTCTTGGCAGCCAGTCAGATGAGGCTTTTTTTGGATTTATTTTGCATAGCAGTTACATCTCCAGTAGTTTCTCATAAGTAAGTATCAAGCTAAATCCTGTATAATCCTATGCTGAGTCAATGAAAATTAATGAAACTGCTCAGCGATTTCAGAACCTGTCTGTATTGAAAGTCTGCATGGAGACTAAGCCAACTTGCAGTGCTAATGCAAGAGCATTTGGCCTGTGCCTGTTAGGAAGCTGCCCAGAATTGCATATGATGATTTTAGCAGACAGACAGTTACCATATGCTTGTGGTTTCTTAGGTCTAAATAGAAGAACACCTTTTAAAACTCAGAATAATCTGCAATTCTGAGGGACACACATTTATAGGCTCAACACTGAAGAGCAAAAACTTTCACTTTACCTGCCG	AAAATAATAGAACTGAGAAATAGGACTGAGAAATGACCAACATCAAGTATATACGGTACACTTAGCACTTGTTTCTATAGAAAACATTTCAAATCAAGTTCTTTATGATGTGAACCAGATTTTCCAAATGCCTAAACCACTTCTGAGCTTTAAGCAAGGCCTCAGAAATTCAGCGGGTGCCTGGGAGGCTTCATTCACATTCACCTCTAAGGAGAGGCTAAAAGAGGAATTTCCAGATGGCAGCTACTGGCTCAGAACCAGGGGGTCCCTTGCCAAGTCTGTCTCTATGTGGCTCCCGGAATTGCTGAGGTCTCACTTCTCAGAGGGCTTTGATGGAAAATAAAGCAACAGCTGACGCTCACGGGCCTCGGAACTCTGGCCAGGCTCCCTGAGGGGTGCATCCTAGGAGAACTGAAAAATGGGATTGGAGCTTTTGCCTTATCCTTACACCCCAAGTTCTTTGTGTGGCAGAACATCTATGAAAAAATAATAAAATATTGTCTGATATTTCCCTTTACTTCTGGTATTGCTTTTGACCTTCTCAAAACCCACCCCTCCCACCTCTAACAAACCAAAATGGAAAATGACAATTCAGGCAGCTGTTAATTGGCTCACTCTCTCAAGGCAAGCACTGTCTCAAGGCAGTCTCAAGGCAGAGATGACACAGCAAAAAACAGAGGGGGAGAAAAAAGTCTATTATTGGCTTGTGATTTACAAAAGCCAAAGTCCTTTAGATAAAAGGCCAGGAGTCGTACCAACATAGATACCAAATCCAGGAGAACACAGACCAGCGATAAGAGGGACGCTTCCCCATGACCCAGACCAGCCTAAAGCCCCTGTGGGGGCAGCCAGTGGGGAGCTGTCAGACCTTGGACATGGTGGTCTTTGAGAATGGGTCTGCCCTTCTCTCCCTGACCAGTTGGGATAGACACCTGACTGGAATCCTTGACACTGGCAGGTGTTTCTATGAACAGAGAGGACTGTGCCTGTCTTCCTGAATCCCAACCCAGAGTAGAAGCAGTGGAGACATGGATCTGGGTTGAGAAATGGGTTTTCCTGTCCCCCTGTGTCACCCACATCTTCACAAAGGACTTACAGGTGGCTGAGAGATCTGTAGGAATGGAATGGGGCTTGCAGGTGGCCCCAGAAATCTGAGGAGACCAATGACTAAGACCAGATGTGGGTCAGTGGTCATCTTGGCAGGTATCACTGTGGACAGATGACACTGAGGGCCACTCCTCTGACCTTGGGTTGTCAACTGCTACCTGGTAGCCCCACCCCTCCCCTTTCTACCCCTAGACCTTGGCCTCCAGGGAAAAAGTGTGTGTAGGAACTCCCTCTGCCATTTTGAAAAGACAGGAGCTAAAAGCAGTTCCATGAAGGACAGGCGTTTCGTTTCATACCTGAGTTTGTGAAATAAGAGTTGTTCTTGCTACACGTGATTTTTACCTTTCTGTCTTCTCCATTGACTTAGTAATGAGACAGATCAGCACGAGGATAACTTGTAGCCATACACCTGGCAGGTTCTGCAAGTCAGAGAACTGTAACCACATGCTGGGCCTTAGAGCAATCTTAGGGCACCTGCTTTTCTCCTGCCTACCCATTTTATAGAAAAAACAAGAGAGGCTCCTTCCGTGGCTGGTAGCACAGGGCAAAGTAAGGAAAGGGATGTGCCAGCAGTGGGTTTGAATGAGGATCTGGGTGACCAGCGGTGAATGTATGTTGTCTGTTAGTCCAGAATCTACATGCTGGGCACGTTAGGGATCCCTCTGGGGAGGGGCGCCTTTGGCTTGCCTTGTTGGTGTGAGCCGAGCACGCGTGCTTGTTTCAATCCTGACCGCCGGTCAATTTGTGGAACAAGTCCTCATCGAGTGTTTCATTCTGGTCCTTGGAGCGGGTGGACAAGAAAATGTAGCCGCCAATGTACTCGTGCACAATCTTGCAATCTGCACTCAGGCAGGTGAAAGCAGTAAAGACGTTTTGGTCAAACTCGATGACCACCTGGAAGAGGAAGGCACAGAGAAGCTTAAACTCTGACAAGGAATGATGAAAAAAAAGTGCTTTGCTGGACTGGCCCCTGGAGCTGAGGGCTGCTGAGGTGGATAACAGATGGATATCCCTCTAAAACACACAGAAAACCATCACTTCCATTAAACGCTTCCAGAAAACATCTTTGCTCTCTTTGCGCCCTCTGGTGGTGTCGACTTTGCTGCACGTCTGGTTAAAAAAACTCCCAACACATTTTCTGTCTACAGTTTAGATACAAGGATTTTGCCCAAGCACTCTCTGTCTCCCTGTGTTGAGGGGCAGGGTGCTTCGCAGGCACTTTATTTTTATTTTTATTTTTTTTTTGAGATGGAGTCTCTCTCTGTCACCCAGGCTGGGGTACAGTGGCACGATCTCGGGCCACTGCAACCTCTGCCTCCCAGGTTCAAGCGATTCTCATGCCTCAGCCTCCCAAGTAGTTGGGATTACAGGTGTGTGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACGCCTGACCTCAAGTGATCCATGCCTCGGACCCCCAAAGTGTTGGGATTATAGGCGTGAGCCACTGCACCCGGCCTGCAGGCTCTTTAATGAATAAAAGTCTGCCTGAATTTTCCTACAGCCACTGCCCGGAACCCTTTCCTAGCTGCAAGTCATAAACTCTAAGCACTAGAAGAAAGACTTAGAGACTTTGCTGGTTCACAACCTTGGCTGCCCATTGAAATCACTTGTGGACCTTTAAAAATTACTAATGGTTCGTTCCTCCTCCCAGAGATTCAGATTTAACTGGCCTTGGGTGTGGTCTAGGCAGTGGTGTTTTAAAGCTCCCCAGGTGATCCTAATACGCATCAAGGCTTTAGAGCTACCGCCTTAGAGGTCATCTAATCTCTGAACTTGATTTTACAAATAAGCACCCAGATGATTATCAACACTGCTGAGAGGAAGTCAGGGTTCTTAACAAATGTGTGGGTCTCTTACCATCCCTCTACGTCAGTGACTTTCTATTGGAAAATGAGAATGCCAAAGGAATGAGGGAAGATTGAGTCTGTATCAGCAACATCTGAATGTTTTAATTAATTCAAGAATGAATGAAACAGGGTCTTGCTTTGTTACCCAGGCTGGAGTGCAGTGGCACAGTCACTGCTCACTGTAACCTCGAACCTCAACTGATCATCCCTGGCTGAGTAGCTGAAACTACAGGTGCACACCATCACACCTGGCTAGTTCAGCGTTTTTTTTTTTTGTTTTTTTTTTTTTTAATTTTCTGTGGAGACAGGGTCTCATTATGTTGCCCAGGCTGGTCTCGAACTCCCAGCCTCAAGTGATCCTTCCCACCTCGGCCTCCCAAAGCACTGGGCAGAATGTTTTAAATTAGCGGCAGGATGCTAAGCTGCCTCTAACTTCATCTGGAATTTTCCATGATACAGGCTTGGCCTGAACTTAGCTCCTAGGATGGGAGATGATGGGAGGCTGTAACATAGGCTAGGGGTTTGAGGGCTCCTGGTTTTAAGAGGTGAAGCTTTTCTCAGTCATCACTATGGACCTCACTTTCTTCTTCAGCAGTTTTTCCCTTTTGGGCCTGGAATGCTCTCCAGGTGAGCAACTGAATCTTCCAGTCCTCCATCGGGTTTCTTGGCAGCCAGTCAGATGAGGCTTTTTTTGGATTTATTTTGCATAGCAGTTACATCTCCAGTAGTTTCTCATAAGTAAGTATCAAGCTAAATCCTGTATAATCCTATGCTGAGTCAATGAAAATTAATGAAACTGCTCAGCGATTTCAGAACCTGTCTGTATTGAAAGTCTGCATGGAGACTAAGCCAACTTGCAGTGCTAATGCAAGAGCATTTGGCCTGTGCCTGTTAGGAAGCTGCCCAGAATTGCATATGATGATTTTAGCAGACAGACAGTTACCATATGCTTGTGGTTTCTTAGGTCTAAATAGAAGAACACCTTTTAAAACTCAGAATAATCTGCAATTCTGAGGGACACACATTTATAGGCTCAACACTGAAGAGCAAAAACTTTCACTTTACCTGCCGN	benign	311,160
The mutation in gene BMP2 (bone morphogenetic protein 2) at chromosome 20, position 6770351—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies_1']	CCGAGATCGCCGCCGTGCCCTTCCCTGGACCCGGCGTCGCCCAGGATGGCTGCCCCGAGCCATGGGCCGCGGCGGAGCTAGCGCGGAGCGCCCGACCCTCGACCCCCGAGTCCCGGAGCCGGCCCCGCGCGGGGCCACGCGTCCCTCGGGCGCTGGTTCCTAAGGAGGACGACAGCACCAGCTTCTCCTTTCTCCCTTCCCTTCCCTGCCCCGCACTCCTCCCCCTGCTCGCTGTTGTTGTGTGTCAGCACTTGGCTGGGGACTTCTTGAACTTGCAGGGAGAATAACTTGCGCACCCCACTTTGCGCCGGTGCCTTTGCCCCAGCGGAGCCTGCTTCGCCATCTCCGAGCCCCACCGCCCCTCCACTCCTCGGCCTTGCCCGACACTGAGACGCTGTTCCCAGCGTGAAAAGAGAGACTGCGCGGCCGGCACCCGGGAGAAGGAGGAGGCAAAGAAAAGGAACGGACATTCGGTCCTTGCGCCAGGTCCTTTGACCAGAGTTTTTCCATGTGGACGCTCTTTCAATGGACGTGTCCCCGCGTGCTTCTTAGACGGACTGCGGTCTCCTAAAGGTAGAGGACGCGGGCCAGGGCCCGGGGTGGGTGGTGGGTGGGAGGGGGATTTGGGCAGCCACTGCGGTAGAGCCCTTCCTTACGTCCAGGCCAGAAGTAAACAGACCCCTCTCCAGTCCACGTGCAACGGAGCCCTGCAGGGGCTCCCACTTCCAGCTGCCCCGGGCGACCGTAAGCCTCACCCTCCCGGCCCGCACTCTTCCACCCCTCTTTCTTCCCCTCTCCCTGGAATACTTTTGGAGCTGTTAACACTTAGATGAGGTGTTTTATTTATTTATTTATTTATTTTTAATTTTTTTAAAAACTTTTTTGGGTCAAAGAAATCCCTTTGAGAGGGTAGCCCCTGGGTTTCACCCGTTAGCTGAGAACCTGTCCGCTCTGCCATGGTGATCTCCATTCTTCAAGTGTTTCCGGGAGACTTGGTTTCTTTGCTCAGAGCCGTGTCCCATTTAGGAAAGTACTAGGAGTTTGGGGTTCTCCCTACTTGTTTCCAGAAATGCGAGGGGTCAGTACTGAAGGATCACTTGGTACTGTGTTTTTAACAGCTGACACGTGCATTAATAGATATTCACCATTTACGTAATCCCGGGAAGATACATGTGTATCTTGACTGCACTGTGGGGATGCGGGATGGAGCTGCCTTTCGAGACACCCCTGAGGGTAGGGGCCTGGGACACAAGTCATAAGTGGCTTCAGAAGTTGTGGCCTTGAGCTTACAGGGTCTGGAAGCTATAAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGAAGTTCTATACAGTGCCTCTAAGGAAGTCACATGCACCATTTATGTGTGTTTATATGCCAGACAGCGCTCAGCACTCCGCATTTGGGTTTGTATAGGGGACGCAGGGTGTCAGATCAAGCGGTGGTTTTCCCAGGTTCCCGGCATTGGCTGTCAGCGCTGTGTCACACACAAAAAAGTGACAGTCATTGGCGCTGGTTTGGTTGGGGGGGAGGGCAAATCCCAAATCTGATGTCAGACGAGCTAAGCGTTGGATGGGAGCGATAAATCATCTGGTTCAGGAACTTGGGACCCTTCATTATCCCAAACGTTTGAGCTTCGGTCGGTCTTACCTAGACTCGTGAGTGTGCCAAGCCAGGAGGGCATCCTGGAGGAGGCACGCCAGCCAAATGGGAGACCGGGCCGCGGGGGCGCGAGGGGGGAGGACTGGGCGGGGAACTCGGGTGACTCACGTCGGTCCTGTCCGCAGGTCGACCATGGTGGCCGGGACCCGCTGTCTTCTAGCGTTGCTGCTTCCCCAGGTCCTCCTGGGCGGCGCGGCTGGCCTCGTTCCGGAGCTGGGCCGCAGGAAGTTCGCGGCGGCGTCGTCGGGCCGCCCCTCATCCCAGCCCTCTGACGAGGTCCTGAGCGAGTTCGAGTTGCGGCTGCTCAGCATGTTCGGCCTGAAACAGAGACCCACCCCCAGCAGGGACGCCGTGGTGCCCCCCTACATGCTAGACCTGTATCGCAGGCACTCAGGTCAGCCGGGCTCACCCGCCCCAGACCACCGGTTGGAGAGGGCAGCCAGCCGAGCCAACACTGTGCGCAGCTTCCACCATGAAGGTGAGGCATGGAGCAGGGCGTGGGGGCGGGGAGTCACCCTGCAAAGCCCTCCACCGTGGGCAGACTGCAGCCGTCCCTGTAGAGGCAGCTTGGCCGGGGCACCAGCGGACGTTTCCACTCTTGCTTCTGTACTATCGTTTCTGAATCTGATTTTAACTCACTGCTTGTGTGGTGGGGGAGCCAGGGATTCCCCTTTAGTAACTCCGCACCCTCTTCCTGGCTTGCAGCCAGAAGAGCTACTCCTCCTGGAAGAATTGGAGAGAAATCAAGTGATGGGGAAGATGAGGGCAAAAGGCATGCCTCTAGTCAGCTAAACGTGCAAGAATTCCACAGAGGGAAAAGGAGAAAAAGGGAGGCAGATTGAGATTTCTTTAAGTCTGTTTGGAAGCTTTTGCTCTATAAATCTGCCGCTTAAGCCAGGGTTTTAGGGTAGACAGAGCCAAGGGCAGAGTTTTCAGAGATAGTATTGAAAAATCAAAGCCCAGGGCCCCAAAGTCTTTCTAATTTATAGTTGATCTGGGCCTGGTTTGGAAGATTTTGAATCCCAATCTAATCCCCGTGGGAGATCAATACTACAATCAATCTTATTGTTTCCACAATGACTTTCTTGTCCTGTGCTTAAATCTGAGATAGGCTCTGAGTAGAGACAAGGCAAGCCTTCAGATAAAAGCGTTTGTAGCAGCTGCCTGTTTTTTTTTCATGTGCACCGAAATGTGGATTTTTTTTTCTTTTATGATACTACATGTGGTTTTTCTAAGGTGGGATATTTCTGCTTGTTTCATCAGAAGGGCATTTAGTGGACTGGAAATGTCTTACAGCAGCTATTGAGGTCTGCTGTACCTAAGTTCTTAGAGCAATTAGTCAAAAATATGTTCCACTTCAATTCTTTTTCTACACTTTTAAATGCTTCTTTGGCTTAATACATTTAAAATAGAGCATGGGTTTCTTCAATTCCTAGAAAAGAGTACAAAAGTGTATATCACAGAGCAACCACTTGGCAGATATTTGGGGAGTTGGGAGTGAAGTTCTCTTTCTTGCCTTTCCCTGCTTAGGTGGTAAATTTCAAGTGGGAAATTTACACTGATAATAGACTAATGGGAAATGGCACTTCCAGATGTTTTCTCCCAGTGTGAAGGGTGACTTATACTTGTGAGAGTATTTGTTGGTAATGGGAATAAGTCCCAAAGGCAAGCCACATAGCAGAAGATACGTTCTCATTGAGGCAGCTACACATTACGACGGGGACACTGAATTGATCATCAGTTCATTTACAAGCACATTTCTAAGTGAGGTGCTCTCTGCTAGCAGAAATCAGATTTGAAAGGCAGTAAGATCTCACTCCACTCTTTCAGAATTCATCCAATGAAAGCAGAAATCACCTGTTGTCATATGTAAAATTTGTGTGTATGTGTACATTCTGCCATCTTAACCCTGAAATGATTATAGATCCAGCTAATCATTCCCAGGTAATGCTGATTAGAATACTTTTTTTTTTGTATAGGAATGTAATAAGAACAACTGTTTTAGACACCTCTTCTGGAAATTTAGCATGGAAGCTCTCAACTTTATTTTTAAGGCCTGGAAGATGCTGTGTCTCTGTTACAACTTAAAAGGAAGATCATTTAAGTTAGTTAACACCTAAAACATTCCATTGTGTGAGGATTTTATCAGTGATGTCTGCATATTCTCATCATTCATCTAGAAGTGGTTTGATCAGAACTAAACAGGCTACACGTTATTCAACTGTGTTATTTTAACTTAAAAAGCATGCTTGAGTTTATAAAATCAGAATTTATATCTTTGTGAGTGTAAATGTTACCTGAGAAACAGTACAGAAGTGACCAACTTGATTAAAATCAACTTGTAATAACTTCAGGTCTTAATGCAGTTAGATAATGGAGAAAAGCTATGTAATTTTGCCCCAAA	CCGAGATCGCCGCCGTGCCCTTCCCTGGACCCGGCGTCGCCCAGGATGGCTGCCCCGAGCCATGGGCCGCGGCGGAGCTAGCGCGGAGCGCCCGACCCTCGACCCCCGAGTCCCGGAGCCGGCCCCGCGCGGGGCCACGCGTCCCTCGGGCGCTGGTTCCTAAGGAGGACGACAGCACCAGCTTCTCCTTTCTCCCTTCCCTTCCCTGCCCCGCACTCCTCCCCCTGCTCGCTGTTGTTGTGTGTCAGCACTTGGCTGGGGACTTCTTGAACTTGCAGGGAGAATAACTTGCGCACCCCACTTTGCGCCGGTGCCTTTGCCCCAGCGGAGCCTGCTTCGCCATCTCCGAGCCCCACCGCCCCTCCACTCCTCGGCCTTGCCCGACACTGAGACGCTGTTCCCAGCGTGAAAAGAGAGACTGCGCGGCCGGCACCCGGGAGAAGGAGGAGGCAAAGAAAAGGAACGGACATTCGGTCCTTGCGCCAGGTCCTTTGACCAGAGTTTTTCCATGTGGACGCTCTTTCAATGGACGTGTCCCCGCGTGCTTCTTAGACGGACTGCGGTCTCCTAAAGGTAGAGGACGCGGGCCAGGGCCCGGGGTGGGTGGTGGGTGGGAGGGGGATTTGGGCAGCCACTGCGGTAGAGCCCTTCCTTACGTCCAGGCCAGAAGTAAACAGACCCCTCTCCAGTCCACGTGCAACGGAGCCCTGCAGGGGCTCCCACTTCCAGCTGCCCCGGGCGACCGTAAGCCTCACCCTCCCGGCCCGCACTCTTCCACCCCTCTTTCTTCCCCTCTCCCTGGAATACTTTTGGAGCTGTTAACACTTAGATGAGGTGTTTTATTTATTTATTTATTTATTTTTAATTTTTTTAAAAACTTTTTTGGGTCAAAGAAATCCCTTTGAGAGGGTAGCCCCTGGGTTTCACCCGTTAGCTGAGAACCTGTCCGCTCTGCCATGGTGATCTCCATTCTTCAAGTGTTTCCGGGAGACTTGGTTTCTTTGCTCAGAGCCGTGTCCCATTTAGGAAAGTACTAGGAGTTTGGGGTTCTCCCTACTTGTTTCCAGAAATGCGAGGGGTCAGTACTGAAGGATCACTTGGTACTGTGTTTTTAACAGCTGACACGTGCATTAATAGATATTCACCATTTACGTAATCCCGGGAAGATACATGTGTATCTTGACTGCACTGTGGGGATGCGGGATGGAGCTGCCTTTCGAGACACCCCTGAGGGTAGGGGCCTGGGACACAAGTCATAAGTGGCTTCAGAAGTTGTGGCCTTGAGCTTACAGGGTCTGGAAGCTATAAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCAGGAAGTTCTATACAGTGCCTCTAAGGAAGTCACATGCACCATTTATGTGTGTTTATATGCCAGACAGCGCTCAGCACTCCGCATTTGGGTTTGTATAGGGGACGCAGGGTGTCAGATCAAGCGGTGGTTTTCCCAGGTTCCCGGCATTGGCTGTCAGCGCTGTGTCACACACAAAAAAGTGACAGTCATTGGCGCTGGTTTGGTTGGGGGGGAGGGCAAATCCCAAATCTGATGTCAGACGAGCTAAGCGTTGGATGGGAGCGATAAATCATCTGGTTCAGGAACTTGGGACCCTTCATTATCCCAAACGTTTGAGCTTCGGTCGGTCTTACCTAGACTCGTGAGTGTGCCAAGCCAGGAGGGCATCCTGGAGGAGGCACGCCAGCCAAATGGGAGACCGGGCCGCGGGGGCGCGAGGGGGGAGGACTGGGCGGGGAACTCGGGTGACTCACGTCGGTCCTGTCCGCAGGTCGACCATGGTGGCCGGGACCCGCTGTCTTCTAGCGTTGCTGCTTCCCCAGGTCCTCCTGGGCGGCGCGGCTGGCCTCGTTCCGGAGCTGGGCCGCAGGAAGTTCGCGGCGGCGTCGTCGGGCCGCCCCTCATCCCAGCCCTCTGACGAGGTCCTGAGCGAGTTCGAGTTGCGGCTGCTCAGCATGTTCGGCCTGAAACAGAGACCCACCCCCAGCAGGGACGCCGTGGTGCCCCCCCTACATGCTAGACCTGTATCGCAGGCACTCAGGTCAGCCGGGCTCACCCGCCCCAGACCACCGGTTGGAGAGGGCAGCCAGCCGAGCCAACACTGTGCGCAGCTTCCACCATGAAGGTGAGGCATGGAGCAGGGCGTGGGGGCGGGGAGTCACCCTGCAAAGCCCTCCACCGTGGGCAGACTGCAGCCGTCCCTGTAGAGGCAGCTTGGCCGGGGCACCAGCGGACGTTTCCACTCTTGCTTCTGTACTATCGTTTCTGAATCTGATTTTAACTCACTGCTTGTGTGGTGGGGGAGCCAGGGATTCCCCTTTAGTAACTCCGCACCCTCTTCCTGGCTTGCAGCCAGAAGAGCTACTCCTCCTGGAAGAATTGGAGAGAAATCAAGTGATGGGGAAGATGAGGGCAAAAGGCATGCCTCTAGTCAGCTAAACGTGCAAGAATTCCACAGAGGGAAAAGGAGAAAAAGGGAGGCAGATTGAGATTTCTTTAAGTCTGTTTGGAAGCTTTTGCTCTATAAATCTGCCGCTTAAGCCAGGGTTTTAGGGTAGACAGAGCCAAGGGCAGAGTTTTCAGAGATAGTATTGAAAAATCAAAGCCCAGGGCCCCAAAGTCTTTCTAATTTATAGTTGATCTGGGCCTGGTTTGGAAGATTTTGAATCCCAATCTAATCCCCGTGGGAGATCAATACTACAATCAATCTTATTGTTTCCACAATGACTTTCTTGTCCTGTGCTTAAATCTGAGATAGGCTCTGAGTAGAGACAAGGCAAGCCTTCAGATAAAAGCGTTTGTAGCAGCTGCCTGTTTTTTTTTCATGTGCACCGAAATGTGGATTTTTTTTTCTTTTATGATACTACATGTGGTTTTTCTAAGGTGGGATATTTCTGCTTGTTTCATCAGAAGGGCATTTAGTGGACTGGAAATGTCTTACAGCAGCTATTGAGGTCTGCTGTACCTAAGTTCTTAGAGCAATTAGTCAAAAATATGTTCCACTTCAATTCTTTTTCTACACTTTTAAATGCTTCTTTGGCTTAATACATTTAAAATAGAGCATGGGTTTCTTCAATTCCTAGAAAAGAGTACAAAAGTGTATATCACAGAGCAACCACTTGGCAGATATTTGGGGAGTTGGGAGTGAAGTTCTCTTTCTTGCCTTTCCCTGCTTAGGTGGTAAATTTCAAGTGGGAAATTTACACTGATAATAGACTAATGGGAAATGGCACTTCCAGATGTTTTCTCCCAGTGTGAAGGGTGACTTATACTTGTGAGAGTATTTGTTGGTAATGGGAATAAGTCCCAAAGGCAAGCCACATAGCAGAAGATACGTTCTCATTGAGGCAGCTACACATTACGACGGGGACACTGAATTGATCATCAGTTCATTTACAAGCACATTTCTAAGTGAGGTGCTCTCTGCTAGCAGAAATCAGATTTGAAAGGCAGTAAGATCTCACTCCACTCTTTCAGAATTCATCCAATGAAAGCAGAAATCACCTGTTGTCATATGTAAAATTTGTGTGTATGTGTACATTCTGCCATCTTAACCCTGAAATGATTATAGATCCAGCTAATCATTCCCAGGTAATGCTGATTAGAATACTTTTTTTTTTGTATAGGAATGTAATAAGAACAACTGTTTTAGACACCTCTTCTGGAAATTTAGCATGGAAGCTCTCAACTTTATTTTTAAGGCCTGGAAGATGCTGTGTCTCTGTTACAACTTAAAAGGAAGATCATTTAAGTTAGTTAACACCTAAAACATTCCATTGTGTGAGGATTTTATCAGTGATGTCTGCATATTCTCATCATTCATCTAGAAGTGGTTTGATCAGAACTAAACAGGCTACACGTTATTCAACTGTGTTATTTTAACTTAAAAAGCATGCTTGAGTTTATAAAATCAGAATTTATATCTTTGTGAGTGTAAATGTTACCTGAGAAACAGTACAGAAGTGACCAACTTGATTAAAATCAACTTGTAATAACTTCAGGTCTTAATGCAGTTAGATAATGGAGAAAAGCTATGTAATTTTGCCCCAA	pathogenic	311,230
Gene BMP2 (bone morphogenetic protein 2) variant at chromosome 20, position 6778297—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Short_stature,_facial_dysmorphism,_and_skeletal_anomalies_with_or_without_cardiac_anomalies_1']	TGGATGGATCCTGAAAGGTATTCCCCAGAGGTTTGGATTAATAGGCACAAGGGAACCCTAAAGGACTCTATTGGCCTGATACTCCCCATATCCACGTAGAAGAGCTTTAGAAGAACCTTCTGTTCTGAGACCCTGGCTGGGCCCACCCAGAGCTGGCCCATTCAACTCTTACTCCTTTGCCACCACTAATGGTTCTTCTACTAGTTTTTATATTATTTAACAAAAAGGCACTTTAAAAATGCACTCCTGGCAATCTATACTGGAATATGAAAAACATGCTGCAAAACCTTGACACTCCAAGTGTGGTCTTACAGTTCCCAGAATCCCCTCCTTGAGGAGCTGCTAGAAATGCTGAATCTCAAGCATCTCCCCAGACCTACTGAATCAGAGCCTGCATCTGAAGCTTTACGGTGTACAAGCTGTTTTATGTGAAGGCTGAAGTTTGAAAAGCACTGCATTAAAGCGTTAGTTTGGTATAAACTGCCCTGACTGAACTTGGTGTGTCCACTTAGCTTGCATGATGACTGTTGCTTTGATGATGAAGGCTTACACGGGTAGATCCTTTGAGTGAGTGATCTGACATGATTCTCCTTTGCTAAGGCATCTAGATTCAGTGCACAACTTACAGCTGTTTGTCTTTAGGGGAAATACAACTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTACAAGCATTCAAGGTGCTGTGTTATATATTACTTGCTTGGAGAATAATACTTCTTAAAAATTGAAATTCAGAAATTTTAAATCAGACAAAGCTTTTGTGCATGGCCCACTTAAATGGCTATTTTGAAATAATGATAGTGGATATAGAAGGATTATTCTGTAATAGGATGAGACTGTTCCTTTTGTCATGGAGATCATAATCATATTTTTGTAAATTTTTATTATTTTTTTGGTTTTGTGTCCATCCTGCACACTATTACTGGGTAGGTACATGGTTTTTTAACATGGTTTATCTTTCAAAACTATAAAGGCATTGCAAACAGAAGACAGGTCATTTATTTTTCTTCCAAAAGCATCTAAAATGAGATTTTGATATTTGAGGTCATAAAGAGGTGAGAGAACAGACAACAGTTGGGAAAGCTATTTCTCTTGAAATTGTTTGGCCTTAATTACTACAGTGTCCTAGTACCACCCATACGTTTCCAAAGAAGTAGATCCCTGTAAATGCCTTTGTCTCTGGACTTTTGAGTAAAATAGTAGGGTGTGCTTTGCAAAATGTCATCGTTGATGTTGAGTTTCAGAGTCTTTAATTAGGAAGCTGAAATCTGTATATCGAGATTTGTAAATCATCTAAATTGCAGAGTAATGTTTTAGAATACTGCTTAAGGGATTGGCATTAAAGCCTTTTTTAAAAAAGAAATGCAATAATTTCCTCAAATCCTCACTCATTAGACCTCTACTAACTATAGTGCTGACTTTTTTTTTTTTTTACCCTAAAGTCTGGAATTCCAAAGAAATGCTTCACCATTTCCCCCATTATTATAGCCACCTGGAAGCAGTATTCATGTATTAGATCAAAAACACAACAAAGAATTATGAAAGGTTGTTTCCTGGTATGCAATGCATGATGACATGAACTTACAGAACAGAGAGAAGGGAGGCTCCATGTTTATTTAAAGAGGAAATTTTTATTTTCTGGTTACCTACTTTTACATGGGTTACATCAAATCCCACGATGAGGTTTAAAAATTCTCATAGATAATCAAACGTCATTACTTGGCTTACTGAAATTCAGACTTTTCTTTTTTCTTCCCTGTTTTTCTCTATCAAATTAGAATCTTTGGAAGAACTACCAGAAACGAGTGGGAAAACAACCCGGAGATTCTTCTTTAATTTAAGTTCTATCCCCACGGAGGAGTTTATCACCTCAGCAGAGCTTCAGGTTTTCCGAGAACAGATGCAAGATGCTTTAGGAAACAATAGCAGTTTCCATCACCGAATTAATATTTATGAAATCATAAAACCTGCAACAGCCAACTCGAAATTCCCCGTGACCAGACTTTTGGACACCAGGTTGGTGAATCAGAATGCAAGCAGGTGGGAAAGTTTTGATGTCACCCCCGCTGTGATGCGGTGGACTGCACAGGGACACGCCAACCATGGATTCGTGGTGGAAGTGGCCCACTTGGAGGAGAAACAAGGTGTCTCCAAGAGACATGTTAGGATAAGCAGGTCTTTGCACCAAGATGAACACAGCTGGTCACAGATAAGGCCATTGCTAGTAACTTTTGGCCATGATGGAAAAGGGCATCCTCTCCACAAAAGAGAAAAACGTCAAGCCAAACACAAACAGCGGAAACGCCTTAAGTCCAGCTGTAAGAGACACCCTTTGTACGTGGACTTCAGTGACGTGGGGTGGAATGACTGGATTGTGGCTCCCCCGGGGTATCACGCCTTTTACTGCCACGGAGAATGCCCTTTTCCTCTGGCTGATCATCTGAACTCCACTAATCATGCCATTGTTCAGACGTTGGTCAACTCTGTTAACTCTAAGATTCCTAAGGCATGCTGTGTCCCGACAGAACTCAGTGCTATCTCGATGCTGTACCTTGACGAGAATGAAAAGGTTGTATTAAAGAACTATCAGGACATGGTTGTGGAGGGTTGTGGGTGTCGCTAGTACAGCAAAATTAAATACATAAATATATATATATATATATATTTTAGAAAAAAGAAAAAAACAAACAAACAAAAAAACCCCACCCCAGTTGACACTTTAATATTTCCCAATGAAGACTTTATTTATGGAATGGAATGGAAAAAAAAACAGCTATTTTGAAAATATATTTATATCTACGAAAAGAAGTTGGGAAAACAAATATTTTAATCAGAGAATTATTCCTTAAAGATTTAAAATGTATTTAGTTGTACATTTTATATGGGTTCAACCCCAGCACATGAAGTATAATGGTCAGATTTATTTTGTATTTATTTACTATTATAACCACTTTTTAGGAAAAAAATAGCTAATTTGTATTTATATGTAATCAAAAGAAGTATCGGGTTTGTACATAATTTTCCAAAAATTGTAGTTGTTTTCAGTTGTGTGTATTTAAGATGAAAAGTCTACATGGAAGGTTACTCTGGCAAAGTGCTTAGCACGTTTGCTTTTTTGCAGTGCTACTGTTGAGTTCACAAGTTCAAGTCCAGAAAAAAAAAGTGGATAATCCACTCTGCTGACTTTCAAGATTATTATATTATTCAATTCTCAGGAATGTTGCAGAGTGATTGTCCAATCCATGAGAATTTACATCCTTATTAGGTGGAATATTTGGATAAGAACCAGACATTGCTGATCTATTATAGAAACTCTCCTCCTGCCCCTTAATTTACAGAAAGAATAAAGCAGGATCCATAGAAATAATTAGGAAAACGATGAACCTGCAGGAAAGTGAATGATGGTTTGTTGTTCTTCTTTCCTAAATTAGTGATCCCTTCAAAGGGGCTGATCTGGCCAAAGTATTCAATAAAACGTAAGATTTCTTCATTATTGATATTGTGGTCATATATATTTAAAATTGATATCTCGTGGCCCTCATCAAGGGTTGGAAATTTATTTGTGTTTTACCTTTACCTCATCTGAGAGCTCTTTATTCTCCAAAGAACCCAGTTTTCTAACTTTTTGCCCAACACGCAGCAAAATTATGCACATCGTGTTTTCTGCCCACCCTCTGTTCTCTGACCTATCAGCTTGCTTTTCTTTCCAAGGTTGTGTGTTTGAACACATTTCTCCAAATGTTAAACCTATTTCAGATAATAAATATCAAATCTCTGGCATTTCATTCTATAAAGTCCAACCTGTAAGAGAAAATGGTGCATTTGTATAGCGCTTACAATGATGACCTTGTGTTTGCATTTTTGTTTCTGAAGTTATA	TGGATGGATCCTGAAAGGTATTCCCCAGAGGTTTGGATTAATAGGCACAAGGGAACCCTAAAGGACTCTATTGGCCTGATACTCCCCATATCCACGTAGAAGAGCTTTAGAAGAACCTTCTGTTCTGAGACCCTGGCTGGGCCCACCCAGAGCTGGCCCATTCAACTCTTACTCCTTTGCCACCACTAATGGTTCTTCTACTAGTTTTTATATTATTTAACAAAAAGGCACTTTAAAAATGCACTCCTGGCAATCTATACTGGAATATGAAAAACATGCTGCAAAACCTTGACACTCCAAGTGTGGTCTTACAGTTCCCAGAATCCCCTCCTTGAGGAGCTGCTAGAAATGCTGAATCTCAAGCATCTCCCCAGACCTACTGAATCAGAGCCTGCATCTGAAGCTTTACGGTGTACAAGCTGTTTTATGTGAAGGCTGAAGTTTGAAAAGCACTGCATTAAAGCGTTAGTTTGGTATAAACTGCCCTGACTGAACTTGGTGTGTCCACTTAGCTTGCATGATGACTGTTGCTTTGATGATGAAGGCTTACACGGGTAGATCCTTTGAGTGAGTGATCTGACATGATTCTCCTTTGCTAAGGCATCTAGATTCAGTGCACAACTTACAGCTGTTTGTCTTTAGGGGAAATACAACTGTAAAATTAATAAAAACATAGTCTCTTCTTATGATAACATGGAACGATGGCAAAATAGATTTTGTTAGCACTTGGGTAGGAATTCTGAATGAAGCAGGCAAATTCTGTTGGCAGTGAAATGATAGGATGTGGTAAAGTTAGAATAAAATAAACTTAAATGTCTCAAACTCTCATGGTATATACTACCAGTTTAATAATAATGTTGTACCTTTGATGATTTGCAGACTACAAGCATTCAAGGTGCTGTGTTATATATTACTTGCTTGGAGAATAATACTTCTTAAAAATTGAAATTCAGAAATTTTAAATCAGACAAAGCTTTTGTGCATGGCCCACTTAAATGGCTATTTTGAAATAATGATAGTGGATATAGAAGGATTATTCTGTAATAGGATGAGACTGTTCCTTTTGTCATGGAGATCATAATCATATTTTTGTAAATTTTTATTATTTTTTTGGTTTTGTGTCCATCCTGCACACTATTACTGGGTAGGTACATGGTTTTTTAACATGGTTTATCTTTCAAAACTATAAAGGCATTGCAAACAGAAGACAGGTCATTTATTTTTCTTCCAAAAGCATCTAAAATGAGATTTTGATATTTGAGGTCATAAAGAGGTGAGAGAACAGACAACAGTTGGGAAAGCTATTTCTCTTGAAATTGTTTGGCCTTAATTACTACAGTGTCCTAGTACCACCCATACGTTTCCAAAGAAGTAGATCCCTGTAAATGCCTTTGTCTCTGGACTTTTGAGTAAAATAGTAGGGTGTGCTTTGCAAAATGTCATCGTTGATGTTGAGTTTCAGAGTCTTTAATTAGGAAGCTGAAATCTGTATATCGAGATTTGTAAATCATCTAAATTGCAGAGTAATGTTTTAGAATACTGCTTAAGGGATTGGCATTAAAGCCTTTTTTAAAAAAGAAATGCAATAATTTCCTCAAATCCTCACTCATTAGACCTCTACTAACTATAGTGCTGACTTTTTTTTTTTTTTACCCTAAAGTCTGGAATTCCAAAGAAATGCTTCACCATTTCCCCCATTATTATAGCCACCTGGAAGCAGTATTCATGTATTAGATCAAAAACACAACAAAGAATTATGAAAGGTTGTTTCCTGGTATGCAATGCATGATGACATGAACTTACAGAACAGAGAGAAGGGAGGCTCCATGTTTATTTAAAGAGGAAATTTTTATTTTCTGGTTACCTACTTTTACATGGGTTACATCAAATCCCACGATGAGGTTTAAAAATTCTCATAGATAATCAAACGTCATTACTTGGCTTACTGAAATTCAGACTTTTCTTTTTTCTTCCCTGTTTTTCTCTATCAAATTAGAATCTTTGGAAGAACTACCAGAAACGAGTGGGAAAACAACCCGGAGATTCTTCTTTAAGTTCTATCCCCACGGAGGAGTTTATCACCTCAGCAGAGCTTCAGGTTTTCCGAGAACAGATGCAAGATGCTTTAGGAAACAATAGCAGTTTCCATCACCGAATTAATATTTATGAAATCATAAAACCTGCAACAGCCAACTCGAAATTCCCCGTGACCAGACTTTTGGACACCAGGTTGGTGAATCAGAATGCAAGCAGGTGGGAAAGTTTTGATGTCACCCCCGCTGTGATGCGGTGGACTGCACAGGGACACGCCAACCATGGATTCGTGGTGGAAGTGGCCCACTTGGAGGAGAAACAAGGTGTCTCCAAGAGACATGTTAGGATAAGCAGGTCTTTGCACCAAGATGAACACAGCTGGTCACAGATAAGGCCATTGCTAGTAACTTTTGGCCATGATGGAAAAGGGCATCCTCTCCACAAAAGAGAAAAACGTCAAGCCAAACACAAACAGCGGAAACGCCTTAAGTCCAGCTGTAAGAGACACCCTTTGTACGTGGACTTCAGTGACGTGGGGTGGAATGACTGGATTGTGGCTCCCCCGGGGTATCACGCCTTTTACTGCCACGGAGAATGCCCTTTTCCTCTGGCTGATCATCTGAACTCCACTAATCATGCCATTGTTCAGACGTTGGTCAACTCTGTTAACTCTAAGATTCCTAAGGCATGCTGTGTCCCGACAGAACTCAGTGCTATCTCGATGCTGTACCTTGACGAGAATGAAAAGGTTGTATTAAAGAACTATCAGGACATGGTTGTGGAGGGTTGTGGGTGTCGCTAGTACAGCAAAATTAAATACATAAATATATATATATATATATATTTTAGAAAAAAGAAAAAAACAAACAAACAAAAAAACCCCACCCCAGTTGACACTTTAATATTTCCCAATGAAGACTTTATTTATGGAATGGAATGGAAAAAAAAACAGCTATTTTGAAAATATATTTATATCTACGAAAAGAAGTTGGGAAAACAAATATTTTAATCAGAGAATTATTCCTTAAAGATTTAAAATGTATTTAGTTGTACATTTTATATGGGTTCAACCCCAGCACATGAAGTATAATGGTCAGATTTATTTTGTATTTATTTACTATTATAACCACTTTTTAGGAAAAAAATAGCTAATTTGTATTTATATGTAATCAAAAGAAGTATCGGGTTTGTACATAATTTTCCAAAAATTGTAGTTGTTTTCAGTTGTGTGTATTTAAGATGAAAAGTCTACATGGAAGGTTACTCTGGCAAAGTGCTTAGCACGTTTGCTTTTTTGCAGTGCTACTGTTGAGTTCACAAGTTCAAGTCCAGAAAAAAAAAGTGGATAATCCACTCTGCTGACTTTCAAGATTATTATATTATTCAATTCTCAGGAATGTTGCAGAGTGATTGTCCAATCCATGAGAATTTACATCCTTATTAGGTGGAATATTTGGATAAGAACCAGACATTGCTGATCTATTATAGAAACTCTCCTCCTGCCCCTTAATTTACAGAAAGAATAAAGCAGGATCCATAGAAATAATTAGGAAAACGATGAACCTGCAGGAAAGTGAATGATGGTTTGTTGTTCTTCTTTCCTAAATTAGTGATCCCTTCAAAGGGGCTGATCTGGCCAAAGTATTCAATAAAACGTAAGATTTCTTCATTATTGATATTGTGGTCATATATATTTAAAATTGATATCTCGTGGCCCTCATCAAGGGTTGGAAATTTATTTGTGTTTTACCTTTACCTCATCTGAGAGCTCTTTATTCTCCAAAGAACCCAGTTTTCTAACTTTTTGCCCAACACGCAGCAAAATTATGCACATCGTGTTTTCTGCCCACCCTCTGTTCTCTGACCTATCAGCTTGCTTTTCTTTCCAAGGTTGTGTGTTTGAACACATTTCTCCAAATGTTAAACCTATTTCAGATAATAAATATCAAATCTCTGGCATTTCATTCTATAAAGTCCAACCTGTAAGAGAAAATGGTGCATTTGTATAGCGCTTACAATGATGACCTTGTGTTTGCATTTTTGTTTCTGAAGTTATANNNNN	pathogenic	311,234
Is the chromosome 20, position 8684855 variant in PLCB1 (phospholipase C beta 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	benign	ACAGAAAGAAAATTGGTTATGTGTATTAAAATCCTCAAAAGTATGCGAAGTCTTTGAATCAGAAATTCTATTTCTGGGAATTCATCCTGAAGAAATAATTAAGTATTTATACAAAGATGTAACCATCAGAGCAGTCAATGCAATGTCATTTATACTAGTGAAAAAATTAGAAACAACTTTAATGATCAATGATAATAGAATATTATTTCATATTATACTGCTATATTTTATGATATAAAAATATAGATAGTTGCATATTTTATGCTATAGTTAAATATCCGCATAGAATTTATTTTTACATTAAAAATGTTCATAATATATTGCTCAGTTAATACAAAGGTTACTAAATTATATATATAATTATATGTATGTGTGTATATGCATGATTACAGCTTCATAAAAGAATTATACACACACACGGGTATTTTTCTGGGAGGATACACACCAATGTTTTAGCAGTAGTTATCTCTGAAAGAAAAGTTAGGGATGTTCAAAACAAGTTTTATTTTTTCTCTCTGTTTATCTCATTTCCCAATTTTTCTTTAATGAACATATTCCACTTTTATAGTAATAAAAACTGTTTCAACAAGAAAAAAAAAAGAAATGCTACCCTCCGACATTTGTTGGCAACATATTTACTACCCGCAAATATGTTGTTTGAAGCTTTGATTGTCAAGATTGAAGAAACAAATTGTAGTGATAGACCAAAATACTTAAGATGATCCTATGTATCTATGAAGATTATGACAAAAAATTGTCTCAATACGTGTATCAAAACATCCAGTTGTACACCTTAAATATGTAGTTTTTTAAATTATACCTCAATAAAGTTGACAAAAGAATTTTGTCAATATTTAGTATTAGTCAACTCAGAAAGGTTACAACATAGAAAAATTTCTAAATAGAATCTGAGTAAACTAAATTACCTGTGTCATATTTCTGCCATCTGAAGTAAAATAATTCTTAATATGAGATTTAAAGATCTTTTTTCATGAGCATTCAAATTTTTATTTTCAGGAAAGACTCATTTGTGGGCATCTTTATTTTCTGTTTCAGAGAAAAATATCATTATTTGAAAACACCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACCCGCCACCACACCCGGCTAATTTTTCTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAAACACTTTAACATTATTTTAAATAATAAAACCACTTGTAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTATTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCAATGCAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGATTACAGGCGCCCACCATGCCCGGGTTAATTTTTGTGTTTTGGGTAGAGAGGAGACTTCGCCATATTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAAGTGATCCACACGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCACTTGTACATAATTTTGATTATAAAGTAACATACATTAATAAGAAAAAAAATTGAAAAATTACCCCAAATTCTATTACACAGAGATAAGCACTGATAACATTTTAGTGCCGATCCATAAAGTTAATACCAGTCTTACATTGGAAAACAGGAGGTTGGTGTTTATTTAAATCCTCTGAAAATTTGGTGGGGCTCATGTAACTACATGTTTTCTCTATTGTCTGTGACATTTGGAAATAATTGTAGTGAAACAGAATAATCCTACACTCTTATTTATCCATACTAAAATGTCTTCTACCTTGGACACTACAAGATATTTCTGGAAAAAAAAAAAAAAAGAGGCGACTTGACACCCATAAAAGAATGCATTCACATCCTTTCTAACTTCATTTCCTCCAGGACAAATATCAGTGGATGGGTTCATGCGCTATCTGAGTGGAGAAGAAAACGGAGTCGTTTCACCTGAGAAACTGGATTTGAATGAAGACATGTCTCAGCCCCTTTCTCACTATTTCATTAATTCCTCGCACAACACCTACCTCACAGGTATGAATTTTCTAGTTCTTTGTTACTTTAGCCAGTCTCACCAAATTTCACCAACCTCTACTTTCTGTTGTTCGGAAGCTGAAGTGTGTTTTCTTCCATTTCCTGCGAAGTGCCTCTGAGAACTCTGGGGTTCCACCACTAAAGCCTCCCGCCTCCCATAAGCAGTCATGTCCACATGTGTATGAAGCAATAGCATCATTTCTCCACAGCCTAAGTTTTTAAGTCTTCTAAAATGCAACCACGGCTGACATTTTCAGATCAATGGGATTTTTGTGTAACTGAACTCATTCTTCAGTGTACTTGAAGCCATGTCCAGTCCTACCCGGTTCTCTGGGCTGTGTTCATCTACATGACAGCTCCGAAGTTCTTAAGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGACGGCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGTTCAATATGGCGAAACCCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAATCAGCCAGGCGTGGTGGTGCGTGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCAAGAGGTGGAGGTTACAGTGAGCCGAGATCACACCACTGCACCCCAACCTGGGTGACAAGAATGAAACTTTGTCTCAAAAGAAAAAAAAAAGAATTAAGTAATTGCTTTTTGTTCAAGGTAGGACAGGGCTTTAGACAAAAACAAATTGACCTGTGAATGACAACTTATACTTTATTGTAAATATTATAATAAAGTAGGATAAAACATCAATGTGTTTCTAATCTGATCTTAAATTAAGCCTTGACCTATTTGGCAGTCTGGTGAAGTGTATGCACCCTTCTCAGAATGCTAAATGCATAAATTAAGTACCTAGAATTAAAGAGGAAATAAATTTCATTGAAATATTTTTATAAAATGTTATGATATATAACCTTGTGTATCTCAGTATTAACACAATTTAAATAAGTATAAGTAAAATGTTGTGATAATTTGCAACAATTGGAATATAATACACAGATCTTGCTAGTGACTTGTAAACTACATACTTAACTGAAGAGAATGTTAAATTTTGTGTAGAGGTTAAAATTAAAACTGTAACCATTCTTTCTCATCCAAGTTCAAGGAGGTTCATGGAATATCACTTTAACAGTCTAGATCTTTGACATGATAAAATTCAAAGAAGTATAATTTTTAAAATCTGAGCACATTATAGAATCTTACATTTATCCTATATTTAGGACCACAAAACTCAAAAATACTTAAATATATGTCCGGTTGAATTTTGGGTATTGTGTGTGATTTTGTTTAAGTGGAAGTCACAATATAGAGTAGATTTTTTACGAATAATCTTTTGAGTCCAAAATACCTTCCAACTGATATATTTATATTCATTACATTCTATTTTATTTGTCATATAATAAATGAGTCAGTAATACCAAAATGATTGAATGACAAGACTGATTGGATATACATTTTATTTTTTCACCTTCTTTCAGAGTATATTAATTTTTCCCTTTCTGACTATCACTAGGGTTTTCAGATTTTATGTATGTTCATTCAATCGCGGCTGCCATTCTCCTTTTGAGAGACCAAATTGTCTCAACTTTGGTTAGTAGGAGACATTTTTAGGCTATCATCTGTGTCCTCTTGACATGACCTATTAATCTTTGAAAGTGTTCTGGCACATAGAGATCTTCCAGACTCACCTTATTCCTTTCTGCTCCAGAGATGGAAACAGACTATTCTCCAGTGAGCCCTGGTTCTTTTTGATGGGAAAGAAAAAGTATGAGTAACAGCAATT	ACAGAAAGAAAATTGGTTATGTGTATTAAAATCCTCAAAAGTATGCGAAGTCTTTGAATCAGAAATTCTATTTCTGGGAATTCATCCTGAAGAAATAATTAAGTATTTATACAAAGATGTAACCATCAGAGCAGTCAATGCAATGTCATTTATACTAGTGAAAAAATTAGAAACAACTTTAATGATCAATGATAATAGAATATTATTTCATATTATACTGCTATATTTTATGATATAAAAATATAGATAGTTGCATATTTTATGCTATAGTTAAATATCCGCATAGAATTTATTTTTACATTAAAAATGTTCATAATATATTGCTCAGTTAATACAAAGGTTACTAAATTATATATATAATTATATGTATGTGTGTATATGCATGATTACAGCTTCATAAAAGAATTATACACACACACGGGTATTTTTCTGGGAGGATACACACCAATGTTTTAGCAGTAGTTATCTCTGAAAGAAAAGTTAGGGATGTTCAAAACAAGTTTTATTTTTTCTCTCTGTTTATCTCATTTCCCAATTTTTCTTTAATGAACATATTCCACTTTTATAGTAATAAAAACTGTTTCAACAAGAAAAAAAAAAGAAATGCTACCCTCCGACATTTGTTGGCAACATATTTACTACCCGCAAATATGTTGTTTGAAGCTTTGATTGTCAAGATTGAAGAAACAAATTGTAGTGATAGACCAAAATACTTAAGATGATCCTATGTATCTATGAAGATTATGACAAAAAATTGTCTCAATACGTGTATCAAAACATCCAGTTGTACACCTTAAATATGTAGTTTTTTAAATTATACCTCAATAAAGTTGACAAAAGAATTTTGTCAATATTTAGTATTAGTCAACTCAGAAAGGTTACAACATAGAAAAATTTCTAAATAGAATCTGAGTAAACTAAATTACCTGTGTCATATTTCTGCCATCTGAAGTAAAATAATTCTTAATATGAGATTTAAAGATCTTTTTTCATGAGCATTCAAATTTTTATTTTCAGGAAAGACTCATTTGTGGGCATCTTTATTTTCTGTTTCAGAGAAAAATATCATTATTTGAAAACACCTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCACCCAGGCTGGAGTGTAGTGGTGCGATCTCAGCTCACTGCAAACTCCACCTCCTGGGTTCAAACAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCACCCGCCACCACACCCGGCTAATTTTTCTGTATTTTTAGTAGAGACGAGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCCAAAAACACTTTAACATTATTTTAAATAATAAAACCACTTGTAAATTATTTATTTATTTATTTATTTATTTATTTATTTATTTTTATTTTGAGAAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCAATGCAACCTCCACCTCCTGGGTGCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGATTACAGGCGCCCACCATGCCCGGGTTAATTTTTGTGTTTTGGGTAGAGAGGAGACTTCGCCATATTGGCCAGGCTGGTCTCGAGCTCCTGACCTCAAGTGATCCACACGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCCACTTGTACATAATTTTGATTATAAAGTAACATACATTAATAAGAAAAAAAATTGAAAAATTACCCCAAATTCTATTACACAGAGATAAGCACTGATAACATTTTAGTGCCGATCCATAAAGTTAATACCAGTCTTACATTGGAAAACAGGAGGTTGGTGTTTATTTAAATCCTCTGAAAATTTGGTGGGGCTCATGTAACTACATGTTTTCTCTATTGTCTGTGACATTTGGAAATAATTGTAGTGAAACAGAATAATCCTACACTCTTATTTATCCATACTAAAATGTCTTCTACCTTGGACACTACAAGATATTTCTGGAAAAAAAAAAAAAAGAGGCGACTTGACACCCATAAAAGAATGCATTCACATCCTTTCTAACTTCATTTCCTCCAGGACAAATATCAGTGGATGGGTTCATGCGCTATCTGAGTGGAGAAGAAAACGGAGTCGTTTCACCTGAGAAACTGGATTTGAATGAAGACATGTCTCAGCCCCTTTCTCACTATTTCATTAATTCCTCGCACAACACCTACCTCACAGGTATGAATTTTCTAGTTCTTTGTTACTTTAGCCAGTCTCACCAAATTTCACCAACCTCTACTTTCTGTTGTTCGGAAGCTGAAGTGTGTTTTCTTCCATTTCCTGCGAAGTGCCTCTGAGAACTCTGGGGTTCCACCACTAAAGCCTCCCGCCTCCCATAAGCAGTCATGTCCACATGTGTATGAAGCAATAGCATCATTTCTCCACAGCCTAAGTTTTTAAGTCTTCTAAAATGCAACCACGGCTGACATTTTCAGATCAATGGGATTTTTGTGTAACTGAACTCATTCTTCAGTGTACTTGAAGCCATGTCCAGTCCTACCCGGTTCTCTGGGCTGTGTTCATCTACATGACAGCTCCGAAGTTCTTAAGTGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGACGGCGAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGTTCAATATGGCGAAACCCCTGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAATCAGCCAGGCGTGGTGGTGCGTGCCTGTAAACCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACCTGAACCCAAGAGGTGGAGGTTACAGTGAGCCGAGATCACACCACTGCACCCCAACCTGGGTGACAAGAATGAAACTTTGTCTCAAAAGAAAAAAAAAAGAATTAAGTAATTGCTTTTTGTTCAAGGTAGGACAGGGCTTTAGACAAAAACAAATTGACCTGTGAATGACAACTTATACTTTATTGTAAATATTATAATAAAGTAGGATAAAACATCAATGTGTTTCTAATCTGATCTTAAATTAAGCCTTGACCTATTTGGCAGTCTGGTGAAGTGTATGCACCCTTCTCAGAATGCTAAATGCATAAATTAAGTACCTAGAATTAAAGAGGAAATAAATTTCATTGAAATATTTTTATAAAATGTTATGATATATAACCTTGTGTATCTCAGTATTAACACAATTTAAATAAGTATAAGTAAAATGTTGTGATAATTTGCAACAATTGGAATATAATACACAGATCTTGCTAGTGACTTGTAAACTACATACTTAACTGAAGAGAATGTTAAATTTTGTGTAGAGGTTAAAATTAAAACTGTAACCATTCTTTCTCATCCAAGTTCAAGGAGGTTCATGGAATATCACTTTAACAGTCTAGATCTTTGACATGATAAAATTCAAAGAAGTATAATTTTTAAAATCTGAGCACATTATAGAATCTTACATTTATCCTATATTTAGGACCACAAAACTCAAAAATACTTAAATATATGTCCGGTTGAATTTTGGGTATTGTGTGTGATTTTGTTTAAGTGGAAGTCACAATATAGAGTAGATTTTTTACGAATAATCTTTTGAGTCCAAAATACCTTCCAACTGATATATTTATATTCATTACATTCTATTTTATTTGTCATATAATAAATGAGTCAGTAATACCAAAATGATTGAATGACAAGACTGATTGGATATACATTTTATTTTTTCACCTTCTTTCAGAGTATATTAATTTTTCCCTTTCTGACTATCACTAGGGTTTTCAGATTTTATGTATGTTCATTCAATCGCGGCTGCCATTCTCCTTTTGAGAGACCAAATTGTCTCAACTTTGGTTAGTAGGAGACATTTTTAGGCTATCATCTGTGTCCTCTTGACATGACCTATTAATCTTTGAAAGTGTTCTGGCACATAGAGATCTTCCAGACTCACCTTATTCCTTTCTGCTCCAGAGATGGAAACAGACTATTCTCCAGTGAGCCCTGGTTCTTTTTGATGGGAAAGAAAAAGTATGAGTAACAGCAATTN	benign	311,272
Regarding the variant at chromosome 20 and position 10405546, affecting gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	GAATCACCCCAGGCTTCCTCAGGAGGTAGTTCTTTAAGTACAGTTCCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATC	GAATCACCCCAGGCTTCCTCAGGAGGTAGTTCTTTAAGTACAGTTCCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCNNNN	pathogenic	311,465
Benign or pathogenic: chromosome 20, position 10405591, gene MKKS (MKKS centrosomal shuttling protein) variant? Disease(s) if pathogenic?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	CCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCA	CCTGGAACACAGTTGCTTTCCATCTGTAGACCCATGAAACTAGAGAAAAGTTATCTGCCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAN	pathogenic	311,466
Does the variant impacting MKKS (MKKS centrosomal shuttling protein) on chromosome 20, position 10405648, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	CCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACATTCATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACT	CCTTCTACTCACAGCATAAAATTATGGATAAGGCATAACCATAACCATCACCATAACATTCTGTCCACAAAGCTGGGAAATGGGAGACATAAAGGAGTCACTAAGTCTAGCCCATGCTCAAGGGGAGGAAATTATGCAAGGTCTGAAACTAGGAGGTGGGGCCACCTTAGAGGCTGCCTACCACACTGCCCTTCTATTTGATTGTAATAATAAAAGGAGTAAAACTTTTGATAAATATTTTATGAGACTTCAGGTGGGGCTGATACCTAACATATATGGATGGCATTGCTGCTTGTATTGCTAGTTTTTTCCTTTGGCTCAGAGTAAAAATTCTTTTTGATTACAAGAATATCAGAGGAAATTGTTTAACAATTCTATTTCTCTTTATCATGGCTATAGATCTGATCATTGACTATTAGGTTGGTTTGTTTCCCAAAAATTTCCAAAATATTTTCCTAAAGTTTAATACAACATTTGTTATAGCTCCATGCTTATTCATGTGGCTGCCTTCTATATTTCTTCTTCAATTTATCAATACATCTTATATTTGCATAAAATTCAAACTACATCCCTTGGTGAAACATAATGTCTCTACTTTGAACATGGGAGATTTTCTACTTTCTTTTTCATACTATTGACTAGAGAAATAACTTCCCCTTCCCTTTATGCTGCTTTCTGAAGTCCTGCTAGAATACTCCTTATTGTCCTTCCTTTTTCTATCAGTCTATGGTTCTCAACCAACAACAGTTTTGCTCTTCGGGGGACATTTGGCAATGTCTGGAAACATTTTTGGTTGTCACAACAGGAGGGTGCTACTGGCATCTAGTGTGCAGAGGCCAGGGATGCTGCTCAGTAAGCTGTAATGCACAGGGCAGCCTCCGTACAACAAAGAATTATGGGGCTCAGAATGTCAATAATGCCAAAGTTGAGAAACCCCAGTGTAAAACAAACCAGTCCTTCTTCCCACTTTAAAAATGAAGACATTACAATGTTGCTTTAGCCTTGGTTACTATATAAATCTACTTTTTCCCCCCAAAAGCAAACATTTCCCCAAAATAACAAAAATGTGGAGTTGTGATATAAACTACAAATTGCAGGCAAACCAGGTTCTACTCAATTACCTAACCACTGAAGAATATAGCTTGAGATAAAGGGCATGGAGAAAAGTGAAATTTTACTAAATGTGCAGTTTGAATACTTCTTTTGATTGAGCAATATATACTGAATGTTTTGTGACACTTTGAGATCTAGTTTTATACTTTAAGCATATGTAATTACTGCTAACTGGAAAATATCTAAAATATGTATATCCAAACTAGAGCATGGATTAGGAGTCTTTTTTATTTGTTTGCTCTCAAAATGATGCCAACATAACAAAAATTTAGAACAATGTACAGCAGCCAGTATAGAATCCCTAAGATAACTATAATATTTTTAAATAAATAATGCTTCATATTTTTATTGTTTCATGGCATTTCCATTCACGAATCACCTTTTTTCCTAAATAAGTGTATCTATAATTTTATGAGTCATTTGTCCAAATATGTAGAACAGGGCTTTGGGAGAAAACAAATACACTCACAATTTTTCTCAATTGCCAACAGACTAGTTTATTTGTTTCTCTTGTAATACGAACATGCTATTCTCTTAGTTTTTATCTTCAATAACATATGAAAGATCCAAAATCAAATTGGCTGTCTCTACAGCCACCTGTAGGCCACTAAGCTTTGCAGTCAAACAGTCCAAGGTCAGGTTGCTGGCTGAGCCCACAGCTTCATGTGGAAGGCAGCTTTGTGGCACAAATGGACGACGTGTGCTTCTTAAGAAAGACCAGTTGAGTTCTTCCTGGCTATTGTATAATCCACAGCCACACTGTGAAAGCAAATCTGGCCAGTTAGCAACACAGGGAGAATCTGCCTGAACTGACCAAAGGTGTCCATACTTCATGTCAGTGAGAATTTCACCTCCATCATGTTCTAAAGAGCCAACAACAGATTCTAGGGCACTGCAAAATGCTTCAGCAATTAATTGAAGTTCTGTTTGAGTACACATCATCTTTGAGAATGCTTTCTGGGTCGTTGTGAGTCTAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACTNN	pathogenic	311,469
Is the genetic variant on chromosome 20, position 10407737, gene MKKS (MKKS centrosomal shuttling protein), benign or pathogenic? If pathogenic, what disease(s) is indicated?	benign	TAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACTGCAGGACATGCAGTGCCGTCTGACACGTGAGCTAAGAAAAAACCCAAATCATCAGAATCAGACGTTCACATCATATTAACACACAAAAAATCATGCTCTCAAAGCATCATAGTGAATACAGAGAGTGTGATTTTAATTACAAAAGAACAAAACTTGTGTGGTGCCAAGGTTGTCATGTGATTAATACATTCTGAATAGTAAGGTTTAGAGATTAAGGGAAGATACTTCAGTCAGAAGTTTGTTTTCACGGAGCCAGATTAGTATTTTCTTTCATATACACTTAGCTCTTCAAACTGAGACGAATATATGGCCTCAAAATATCTGGGTCAACAAGGTTTGCTGACACTTCCACTAAAAAAATCATTTCAGTCTAAATAATAAATTTATTTTGAATGGATTTGGAAATAATACAGTTACATCCCAGCAATAATAAATAAAAAATCACACAGACCTTTAACATTTACTAAGGATATATCCTTGAGCATACATGAATCTTTAAAACTTGTGACCAATCCCATAGATTATCATTTCCCTTGTATAAAAGTTGCATGTATTATTGCTGGCAGAGAACAGGAAACTCTGCTAAGAAGTGGATGATGGGTATTGACTGGGGAACTCATTTTTCCAAGTGAATTATTCATACACATTACCATCAAAGACTACACAATTCAAGCTAATTTCTTAGAAAAGTTCGCATGTCAAGGGCCTTTTAGGTTTCTAGTAAATAGTAGAAATAATAAATGGCAACACATGCCAAATTTATTATAATGCCACAGGCATTTAAATTAGCTTACTTGTGACTTTGCATCAATCATTTTAATTTTTGCTTTCTATACTACCTAGGGAAGCTACGAAAAAAAAATCATAATAACTATTGAGTGACTAATTCCTCCCTCAGCCTCTGCATATGGAATTCAAAGTTCATTACCTACCTTCAGCTCATCCCAGGCAGTGTCATTTCTGTTGCAGAGAAGCAAGCTGCAGATTGTTGCTTCATTAGGAATAAGATGAAAAAAATGTTTGGAGCCAAATTTTGCAGTGCACACATCTTTCACACTTCCATAACTATTAGGACATATTGAGCCTAGGGATCCAATAGGCTGTGTTCCTATTTTTTAAAGATTAGAAAATACAAGTTGTATAAGCAAAAGTGGAGCAAACAACCATTTAAAAGTATATTTATTCCTAGCCAACATAAAAGCCCCACAAGCATATAATTTAAAATATGAAATACAGGATAAATAAGATGAATATTCCTAAACTGCTAAGTTATATTCTGCTATTAAAATGATATACAAATAAAGTAAAGTAGAAGTTATTTTTGTTTACAGATCTCTTTGAAAATCTTTTAGAAGTCATTTTGTACTGTCTTCCCAGAAAAGGGCACATACAATTTTGCATACATTTTCAAGGAATTCAGAAAACCCTCAAAGCCCATTCAGGGTTTAGAGACCCCAAATTAAGAACTTCACTAATTTGGATTACGGGTGATGTGACAGGCTATTTTTTTTTAAAGGCATTATTATTTTCAATTTAAAATAAATGCTGCTATCCAAATAGTTGTGTAGTTGAATTCCTTCGGGACGCTACATAGTGAATATGTAAGAATTATTTTTTTGTCTGGCAACTATTTATAAAATAGCTAACTGAATTATGCCAAAATAAAGTGACATGCTTATTTCACTGCTATTATTTGATATATTAAGTATTTTGTCCTCCTACCTGCACATGTAAAATAGTGAAGTTTTATAAACCACAAGTAAAAATATGAATAAAGAAGTTAGCGTGACTTGAATTTTCCAAATCTCCAAACGTAATGGAAGTTATGTAAGAAAAGAAACCTACATCAAACTCCTACAAGAAACAATACTAAAGTCTAAAGCTATAATTCTGAGCCATTCACCCCTTTCAGCTAGTTTCCTTTTCTTTCAGACTCACCTTTAAAAGATGGTTTCTTTCAAACTAATGGGGTTTAGTTTGAAAGTCTAAAATGTCGGCCGGGTGTAGTGGCTCATGCCTGTAATCCCAGCATTTTAGGAGGCTGAGGCGGGCATTGCCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCA	TAAAGAGTAATAAAAACATTGAAAACACATACAAAGCAATTAATATAAAATGTTTCAGAAAAATAAGATACTGAAATCAAAATCTTATTCCTAAAGTAATTACTTACTTTCATTTAATTTGGGGTCTGGCACAATGCTAACGGGCTTGTATGGGTCAGCCGGCCGGGTTGCAAACCCTTAACTAGGTTGGTTATAGTAAAAATGTATTAAAAATGTATATACTACCAGTCATGTTACCAGAATGAGTGAATCAGAATAACCCCACCATCAGCTTATTCTGAATGAGGCTTGGTAGTGCCTCCTTAATACATGAAGGACTAGGCATAATACATGTATTACAGGTTTTTCTGCACACAGGAGGAAGTTCCTGAAGACTGATGTCCCAAATGGAGTACTTATTTATCTCTGCAAAATGTTTGAGATTTGCTTAAAATGGGAATGCACATATTTTTATTTGGAAATCATGATGTAAATTTTCATATCAATGTTTTAAAAATGAATATTCTTCTCTTTAAATTAATGAAAAGGTAATAAGACCTTAAACAGTCTTCTGGTTCCACTATTTAAAAATGTTTATCCTAGAAATTCCATGATAAAAAGAAAAATTAATATATAGCCATGCACCACATACCAACACTTCAGTCAATGATAGACTGCATATACAACAGTGGTCCCATAAGATTATAAGGCCATATTTTTACTAACCTTTTCTGTGTGTTGATATGTTTAGATACATAAATACCATTGTGTTACAATTACCTACAGTATTCAGTACAGTAATATGCTGTAAGGGTTTGTAGCCTAGGAGCAATAGGCTATACCACATAGCTTAGGAGTGTGGTAGGCTCTACCATGTAGGTTTGTGCAAGTACACTCTATATTGTTTGCACAACAATATTGTCTAATGATGCATTTCTCAGAATATATCTTTGTTAAGCAACATGTCTGTATTAGCAAACTAATAACTGAATGATGGGTTAAAAAATCCATATCTTAACTGCTTAAAAACAGTGACTACTTTCCTACTCAAGACACCTCCTTCCTCTAAAAAACTTTCTCTAGTTTATCAATTCCATTTCAGAATACATTATTGTCCATTCAGCACCAATAGATTGGCACAAATTTTGTTTTCCATAATGTATATTCTGATAACTTTTCATGAATGTGCTTTATCTTCAAAGAGATTCTAAGTTATTTGGGGAAGGACAGGGCATGTTTACCCAATGAATCGATTGCTAATATCTGGAAAACACCTATACCTTTTTCTATCCATTTTCAAATAAAGTAGGCCAGTACTTATGAAATAATCAGAACAACAATGCACTAAACTTATCTGAGAGCTGTCAGGAAATGGAGTTTCCTAGACCAATCAAAAAATTCTATTTAGTATAATTAATAAATAACATACATAAATACCAATTTTAAAATTATAATAGAATCTAATATGTGAATTGCTTAAATAAATGAAACTTTTCTTGATGCTCTAGAAGATACTGAAGTATTCTGTAGAAACTTGGCCCTTTTGTTTGTGAACATCAATTATTACTGTATTGCAGCAGTTGAGATCTCTAAGAGAACTCCCAATAACAGAATGCTAGCTTCAACATGCAGAACATGTAGACAATACTCAAAGAACGTGATCGCTTGCTTAAATATTTTTATAATAATCATTGTAATAAGGATATTACCTTATATTTACCTTGTTATTTCCCTCAAGTGTTTTTGATTATCTACTTTATTTAGACTACTGAAAAATTCAGTGTTAAAGGCTACAAGTTTACCTGTATAACAAACCTATACATGCACCCCTGAACCTAAAAGTTAAAACTAACAAAAAGACTATAGGATATTATGATTTTGGCTTATTATCTCAGAAAACAAAAGTTGCTGAGAATTCAGGTAATCCGAAGAGGATTATCTTACATACCTTGTGTCTGATATATGCAGCCAAATGAGTTTCAGTACAGCCACCTCCCAACAAAGCCCATGGTTCCTTGAGTGTTAACTGCAGGACATGCAGTGCCGTCTGACACGTGAGCTAAGAAAAAACCAAATCATCAGAATCAGACGTTCACATCATATTAACACACAAAAAATCATGCTCTCAAAGCATCATAGTGAATACAGAGAGTGTGATTTTAATTACAAAAGAACAAAACTTGTGTGGTGCCAAGGTTGTCATGTGATTAATACATTCTGAATAGTAAGGTTTAGAGATTAAGGGAAGATACTTCAGTCAGAAGTTTGTTTTCACGGAGCCAGATTAGTATTTTCTTTCATATACACTTAGCTCTTCAAACTGAGACGAATATATGGCCTCAAAATATCTGGGTCAACAAGGTTTGCTGACACTTCCACTAAAAAAATCATTTCAGTCTAAATAATAAATTTATTTTGAATGGATTTGGAAATAATACAGTTACATCCCAGCAATAATAAATAAAAAATCACACAGACCTTTAACATTTACTAAGGATATATCCTTGAGCATACATGAATCTTTAAAACTTGTGACCAATCCCATAGATTATCATTTCCCTTGTATAAAAGTTGCATGTATTATTGCTGGCAGAGAACAGGAAACTCTGCTAAGAAGTGGATGATGGGTATTGACTGGGGAACTCATTTTTCCAAGTGAATTATTCATACACATTACCATCAAAGACTACACAATTCAAGCTAATTTCTTAGAAAAGTTCGCATGTCAAGGGCCTTTTAGGTTTCTAGTAAATAGTAGAAATAATAAATGGCAACACATGCCAAATTTATTATAATGCCACAGGCATTTAAATTAGCTTACTTGTGACTTTGCATCAATCATTTTAATTTTTGCTTTCTATACTACCTAGGGAAGCTACGAAAAAAAAATCATAATAACTATTGAGTGACTAATTCCTCCCTCAGCCTCTGCATATGGAATTCAAAGTTCATTACCTACCTTCAGCTCATCCCAGGCAGTGTCATTTCTGTTGCAGAGAAGCAAGCTGCAGATTGTTGCTTCATTAGGAATAAGATGAAAAAAATGTTTGGAGCCAAATTTTGCAGTGCACACATCTTTCACACTTCCATAACTATTAGGACATATTGAGCCTAGGGATCCAATAGGCTGTGTTCCTATTTTTTAAAGATTAGAAAATACAAGTTGTATAAGCAAAAGTGGAGCAAACAACCATTTAAAAGTATATTTATTCCTAGCCAACATAAAAGCCCCACAAGCATATAATTTAAAATATGAAATACAGGATAAATAAGATGAATATTCCTAAACTGCTAAGTTATATTCTGCTATTAAAATGATATACAAATAAAGTAAAGTAGAAGTTATTTTTGTTTACAGATCTCTTTGAAAATCTTTTAGAAGTCATTTTGTACTGTCTTCCCAGAAAAGGGCACATACAATTTTGCATACATTTTCAAGGAATTCAGAAAACCCTCAAAGCCCATTCAGGGTTTAGAGACCCCAAATTAAGAACTTCACTAATTTGGATTACGGGTGATGTGACAGGCTATTTTTTTTTAAAGGCATTATTATTTTCAATTTAAAATAAATGCTGCTATCCAAATAGTTGTGTAGTTGAATTCCTTCGGGACGCTACATAGTGAATATGTAAGAATTATTTTTTTGTCTGGCAACTATTTATAAAATAGCTAACTGAATTATGCCAAAATAAAGTGACATGCTTATTTCACTGCTATTATTTGATATATTAAGTATTTTGTCCTCCTACCTGCACATGTAAAATAGTGAAGTTTTATAAACCACAAGTAAAAATATGAATAAAGAAGTTAGCGTGACTTGAATTTTCCAAATCTCCAAACGTAATGGAAGTTATGTAAGAAAAGAAACCTACATCAAACTCCTACAAGAAACAATACTAAAGTCTAAAGCTATAATTCTGAGCCATTCACCCCTTTCAGCTAGTTTCCTTTTCTTTCAGACTCACCTTTAAAAGATGGTTTCTTTCAAACTAATGGGGTTTAGTTTGAAAGTCTAAAATGTCGGCCGGGTGTAGTGGCTCATGCCTGTAATCCCAGCATTTTAGGAGGCTGAGGCGGGCATTGCCTAAGGTCAGGAGTTCGAGACCAGCCTGGCCAN	benign	311,471
The genetic variant at chromosome 20, position 10412548, affecting gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	GTGTGCCTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATA	GTGTGCCTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATAN	pathogenic	311,480
Considering the variant on chromosome 20, location 10412554, involving gene MKKS (MKKS centrosomal shuttling protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	CTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTA	CTGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTANNNNNNNNNNN	pathogenic	311,481
Considering the variant on chromosome 20, location 10412555, involving gene MKKS (MKKS centrosomal shuttling protein), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?	pathogenic; ['Bardet-Biedl_syndrome', 'McKusick-Kaufman_syndrome', 'Multicystic_kidney_dysplasia', 'Polycystic_kidney_disease']	TGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTAT	TGTAGTTCCAGCTACTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATNN	pathogenic	311,482
A genetic variant on chromosome 20, position 10412569, affects the gene MKKS (MKKS centrosomal shuttling protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	CTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAG	CTAGGGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGNNNN	pathogenic	311,483
Gene mutation in MKKS (MKKS centrosomal shuttling protein) at chromosome 20, position 10412573—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	GGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTT	GGAGGCTGAGACAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTNN	pathogenic	311,484
Clinical impact (benign or pathogenic) of the variant at chromosome 20, location 10412629, gene MKKS (MKKS centrosomal shuttling protein): what disease(s) if pathogenic?	pathogenic; ['Bardet-Biedl_syndrome', 'McKusick-Kaufman_syndrome']	TTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAG	TTGCGCCACTGCACTCCAGCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACA	pathogenic	311,485
Assess the variant on chromosome 20, position 10412647, impacting MKKS (MKKS centrosomal shuttling protein): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	GCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAG	GCCTGGGCGATAGAGTGAGACTCCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGAATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAA	pathogenic	311,486
Variant on chromosome 20, at position 10412669, affecting MKKS (MKKS centrosomal shuttling protein): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Bardet-Biedl_syndrome_6', 'Inborn_genetic_diseases']	CCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAA	CCACCTTAAAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATA	pathogenic	311,487
A genetic variant on chromosome 20, position 10412677, affects the gene MKKS (MKKS centrosomal shuttling protein). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'MKKS-related_disorder', 'McKusick-Kaufman_syndrome', 'Retinal_dystrophy']	AAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGA	AAACAAACAAAAACCTCTGTAAGCTGCAATATGCTTCACATGTGGCACCCATCCACAGTAACACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGAN	pathogenic	311,488
Evaluate the clinical significance of the mutation at chromosome 20, position 10412739 in gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Bardet-Biedl_syndrome_6', 'Retinal_dystrophy']	ACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAAT	ACCCACTACACAACCTATATCATTAATAAACAGGAATTTTGTTTGAAGGCCTGAAATGAGGTAATGTTAACTTAGATTACCAGGGGAGATAGGTAAGGCCAAAAACATACTTCATCTACCTAAAAGTTTACCTGCGCTATGTGCCTGGTAGTTTTCCCCCTTTTCTTTTTTTCTCAAAAGCTCTCTGCTCCCAAGATCCAGGACTAAAGCTATGGCTATTAATGCCATGTTTAGGTATATATTATGGGCTAGTGTGGAAACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATN	pathogenic	311,491
Located at chromosome 20 position 10412998, the variant affecting gene MKKS (MKKS centrosomal shuttling protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	ACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCA	ACCCAGCCCCCAGTTACAATATGGTTTCTACGGGAAAATGTTTGGTTTTTTTTTTTTTGATAGGGAATCTTGCTGTCACCAGGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCANN	pathogenic	311,494
Variant in gene MKKS (MKKS centrosomal shuttling protein), located at chromosome 20 position 10413079: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	GGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAA	GGCTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAANNNN	pathogenic	311,495
A genetic alteration at chromosome 20, position 10413081, in gene MKKS (MKKS centrosomal shuttling protein)—benign or pathogenic? If pathogenic, which disease(s) is involved?	pathogenic; ['Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	CTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATT	CTGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTAAATCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTNNNN	pathogenic	311,496
Is the chromosome 20, position 10413082 variant in MKKS (MKKS centrosomal shuttling protein) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	TGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTC	TGGAGTGCAGTGGCGCAATCTCGGTTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATT	pathogenic	311,497
Variant chromosome 20, position 10413134, gene MKKS (MKKS centrosomal shuttling protein): benign or pathogenic? Disease(s)?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'MKKS-related_disorder', 'McKusick-Kaufman_syndrome']	AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGAT	AAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATN	pathogenic	311,500
Regarding the variant found on chromosome 20 at position 10413166 in gene MKKS (MKKS centrosomal shuttling protein): is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	CTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTA	CTGGGATTACAAGTGCGGCCACCATGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTAN	pathogenic	311,501
Gene MKKS (MKKS centrosomal shuttling protein) variant at chromosome position 10413233 on chromosome 20: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'McKusick-Kaufman_syndrome']	ACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAA	ACCATGTTGGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAAN	pathogenic	311,502
Chromosome 20, position 10413262, gene MKKS (MKKS centrosomal shuttling protein): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Bardet-Biedl_syndrome', 'Bardet-Biedl_syndrome_6', 'Inborn_genetic_diseases', 'McKusick-Kaufman_syndrome']	CTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACATGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAATGAAACAAATCTATTTAGCCTAAAGTACT	CTGACCTTGTGATCCGCTCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCCCAGCCCTTTCTGTTTTTTTAGATGTAGTCCTGCTTTGTTGCCCAGGCTGGACTTGAACTCCTTGGCTCAAGTAATCCTCCTGCCTCAACTTCCCAGGTAGCTGGGACTACAGGCATGTACCACACCCAGCTAAAGTGTCCCATATTTTAAAAATGAGTCTGGAAGACCCAGTATTCACAAACTGGAAATTGCCAGATTCATGCAAAGCTAGTAGATATTTAAGGCTATCAGTCTGACTTACCATACCAACAACGAGTTCCAAGGAATTATTTCCATTATTAAGAAACTCTACTTTTGACAGTCATTTGAGTCTTACCAAGGTAGGGCAATAACCCAGAGATATTATGTATTCAACACTTGGCATACATATGGCTCCTTTTTGATAATTTATACTAAGACTTTTATTAAATAAACTTTAACAATGGTTTAAGTCTAGTAACTTAAAAATTGGAAACAATGCAGACTAAATGATCATCTTTCTGATAGATTGTCAAAGCAGTTAAAGGATACTGAAAAGTAGCTCACATCAGGAACTCTTCAGCTTGTCATTTTTCTTTGGCTCTAACAGTACTTATATCTGCTTTTAATTTGCTGAGTTTGTAAAATACAGTGAATTTTTTGCCTATTTTAGTTCTGTATATTACCAAATATATTTCGGTCAATTCAACAAACACTTTAGAACACCCACAGTGGGCCAGGCCTGTAATAGGTGCTGAAAGTAAAAGATGATCTTGGTTCTCAAGGTCAGGTGGGAACAGTTTTGATATAGGTAAAACATAGGTGCATGTACATCCCCCTCCCATTAGAAACAACTACTTAAGGAGAAGTACAGAAGTTTGCTGGAATTATGACAAAGTGAAGAAAAAGGGTCATTCTAGTTACAAAATTACTTTCTAAATATAACATGATTTAAAAGTTTTGTCAATTGAGGCTGAAGAATTTTGTGTAAAGTATGAAAGACCTTAGGATTATGGGGATGTTAGACTTCTCAATAACCTGTAAAATATTTGGGGGTTAGATGATATAGTACATTAGGGGGCTGAAAATACATAGAAAATGGCTATAATCACTGCATTTTTAGTATGTGAACAATACAGGATCTTTTCCAGAAACCTTTGCTGCCAGAAATGATACTGACACATGCTGGGTCAATTTTTCAAGATGTTAACAGTGACACAAACCAAAAATATCTCTGCTCAAAAAAGTGTGATTTATTAACTGTAAGAGGCAAAAGCAAAGAGTGATTTTTACCTGTCATTTTAGTCAGGGGTTCCATCAGAGTCACTCCAATTCTGTCTATGGCAATAATACGATGCATATTGAGAAACTGCTTCAAAGATGGATGTATAACTTTTTGGCACAGGACAAGATCTACGTGGTCACTGATTAGCTGCCTTCCTAGGTTAAGCAGCTGGTCCAAGACTGCATTTTCAAGAGAAACCCCATAACTGACCACCACAGTTCCTTCTCCAGTGTCAGAAGTGTCTCCGGATAAAGTTGTACAAAAGAGTGCCACCTTGAGGGCAGTTGATTTTTTGATAGGTAATAGCCTCATTAATTGAACTTCTGACATTTCAATGAGTATCCCAGGTAATACAGTGGAATCTATAACTCTTTGACCTTTTAAAGGTACAATTAAACTCTTTCCTAAAATGATGTGGCCTTCAGCATTTTCTGGAATTGTAAGCAAAAAGGCTCTCAGGATCAAAGCACTGACATGCTCTGTTTCCTTTCTGGTGAGCATACAGGCAGGTTTACTTGTTAATATACTACGCACCAAACAAAGGAGGATCTGAGTACTACTAAAGTCCACTGGGATTCGACAACCACAGGTCTCAGACTTGAGATAACTGATGCAAAGACTCAAAAGATGTTTATTTAATCTAATGACAGTGGTGGGTGTCAAGCCTAATCTCTGAACATTTTCAATCAGGTTGCAGCAAAGAATAGCTGTGAATAAGCCACAATCACTGAAGCTTGACACGATTCTGTATGGAGGCTGTCAGGATCTTTAAAATGGGATGTGTGACCAAAAGGTGACTGAGCAGAGCTGAGGACTGTGAGGTTGTACACACGTAACCTCCAAAGCCATTGTGCAGCTGCTTCAGCCTACCTGAGGGGCCATAGCATGATGTTACAATTCTTTTCAAGACAGAAAGTGTGGTCCTGACTCTCTCAGTTGTCAGTGGTTCACTCTTACACAATGATGGCTTCTTAGCTTCCAAACGAGACATCTTACTTCAGGTGGTAACTAGTGAAGACCGTTTTTATTTTGTAAACCACATTTTTCTATTTATTGCATTATCACGTTTTAACATTAAAAATTATTCTTTAGGAATTAAAGTATGAATATGCAGCATTGTGGCTATAAAATCAAAAAGTTCAATGTTTATGAAGCTAATCAGCATAGAATGATTTAATGACAAATTAGTAATTCCAAATATTTATTTTACTTCACTCTTCAATACTCTTTTGTTTGCTTTGAGACTGAAATTTTACAGACTGCTTTGCAGACCTCTGCAAAAAGTATGTTCCAAGATGGACACCTATGAAAGATATCCCAGCTACAAGAAGCCAGTTCTTTCTAATCCAACTGGTATTTTTCATCTCTTCTTTCGATATGAAGCTCAGATTCAAAGCTGCTTCTTTACCTAATAAATAATAAAAAAAACATTTTAGAGAAATACTTCCCAAGCAGTTTGTAGACTGCAGTTTAATAATTTATTCTAATGCTCTGCTGCCTTTTTAGAAAAAGGAACTACTAACTGGCACAAACGTCCAGAAAATGAGAAAGGTAGACCAACTTTGACTTAAAATTCCTTTATTCTTCAATAAATCCCCTCTACAAGAAAAAGTGCTTGTATTTCAGTGATTCTGTAAGGCACAACAACATGGCTAGAAAGCTTACAGCACAGTTATTTGAATATGGCATGCTTCTAGGAGAGAAATGCTACGATATAAAACAGAGAATTAGGTCTCTGAGTCTTTTTTTTTTTTTTTTTGAGATGGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACCACAACCTCAGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCACCCTCCTCAGTGGCAGGGATTACAGGCATGCGCCACCATGCCCAGCTAATTTTGTACTTTTAGTAGAGATGGGGTTTCTCCATGTTTGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCATCTCTGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACTGTGCCCGGCAAGTCTCTGAGTCTTAAAAGAAGTCCCAAATATCTTTATTCTCCAACATGAAGATTTAATATTATGTTTTTATCTATAATTGTGGTTTGCTTGGAAACTTTAGGTTTGAACAGAAGTGCATTTATATCAAGTCATGTTTGTAAATAATTATAAAAACAAGATAGCTGTTGGCATGTCTACTGCAGGAACTCACTAATGTATAGTCTATATTTAGCTGAATAATTCTGCACAACACATTGTACCAAAAAACAAACCATGTTTTAAACACCTGGCTAAAGTCAGAGCTAATTTTCTATCATTTTACGTTATCAATCAATGATTTTCAGTTTTGGAAATCCTAGTCAACGAATCCTCCCCAAAGCACTGGTTAATGACAGTACATGCAAAAACCAAGGGATATGCTGGATAACAACAACAATAAAAATAGGATCTGAGTTGCAATTCAATTTCAAAGTCTAAATACCATAAAATGTTATATATCAAAAGGACATGTAGAAATACAATTCTAGTTTCCTTAACAAGGTAGTGTCCTTGCTAAAAAAAAGTGTGCCTTGAGGCATAAATTCCTGACACATTAATAATAATGTGTGAAAAGAATAAAAACGTTAGATCATAGATCTTATCTGTTGAGGCCGGGTGTTTTAAAGGTATATTATTCGTTAGTATTTCCAGGAATATGCTGAGTATGGTAGTGTCCAGGAGAGCATTTAGCATAAATGAAACAAATCTATTTAGCCTAAAGTACTNN	pathogenic	311,504

Subsets and Splits

No community queries yet

The top public SQL queries from the community will appear here once available.