Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MBNL3_chrX_132364320_132494038	132396745	T T	TATTCATA others(437): Show TATTCATATATAGATTCATATATATTCATATATAGATTCATATATATTCA TATATAGATTCATATATATATTCATATATATATTCATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATTCATA TATATTCATATATATATTCATATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	191	0.0052	444	c.343 others(461): Show c.343-4412_343-4411insGAATATATATATGAATATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATGAATATATATGAATATATATGAATATATATATGAATATATAT ATGAATATATATATGAATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAATATATAT GAATCTATATATGAAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MEGF6_chr1_3482951_3616508	3583762	A A	ACCAGACA others(437): Show ACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCAC AGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAAC CCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGA CAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAGCCAC CAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACAACGCGCAG CCACCAGACAACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGC GCAGCCACCAGACAACCCGCAGCCACCAGACAACGCACAGCCACCAGACA ACGCGCAGCCACCAGACAACCCACAGCCACCAGACAACGCGCAGCCACCA GACAACGCGCAGCCACCAGACAACGCGCAGCCACCAGACAACCCG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0048 a0048	a0048c0123 a0048c0123	a0048c0123t0054 a0048c0123t0054	a0048c0123t0054g0068 a0048c0123t0054g0068	1	292	0.0034	444	c.377 others(461): Show c.377-3834_377-3833insCGGGTTGTCTGGTGGCTGCGCGTTGTCT GGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTT GTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGCGTTGTCTGGTGGCTGCG GGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGC TGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGTCTGG TGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGGGTTGT CTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTGCGCG TTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTGGCTG CGCGTTGTCTGGTGGCTGTGGGTTGTCTGGTGGCTGCGCGTTGTCTGGTG GCTGCGCGTTGTCTGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(437): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA20805.hp2 NA19074.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	2	390	0.0051	444	c.112 others(461): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AATATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(437): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	390	0.0026	444	c.112 others(461): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TATATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735555	A A	AATAGGCA others(437): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18960.hp1 NA18971.hp1 others(1): Show NA18959.hp1 NA18960.hp1 NA18971.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0257 a0001c0001t0002g0027 a0001c0001t0002g0257	4	390	0.0103	444	c.112 others(461): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735557	A A	ATAGGCAG others(437): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0147 a0001c0001t0002g0147	1	390	0.0026	444	c.112 others(461): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATATATATATATATAT	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7			chr1	TogoVar
MPPED1_chr22_43407014_43512848	43432638	A A	AGGGAGGA others(437): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAA GGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGGGAGAGAGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAG AGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGG AGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAG GGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0205 a0001c0009t0002g0205	1	250	0.0040	444	c.225 others(461): Show c.225-2395_225-2394insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGGGAGAGAGAGGGAAAGAGAAA GGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATAAA GGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAG AGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43432834	A A	AGAGAGAG others(437): Show AGAGAGAGAAAGGGAGGAGAGAGAAAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGG AGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0045	1	250	0.0040	444	c.225 others(461): Show c.225-2177_225-2176insAAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAGGGAGGAGAG AGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AAAGGGAGGAGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(437): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	444	c.18 others(455): Show c.1842_*1843insATATATATATATATTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCA CCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCG GCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCT GGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATC CTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCAT GCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(437): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	364	0.0028	444	c.18 others(455): Show c.1842_*1843insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCA CCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCG GCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCT GGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATC CTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCAT GCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735555	A A	AATAGGCA others(437): Show AATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGC TGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCC TGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATAT ATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCAT CCTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGAT TGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18960.hp1 NA19087.hp1 NA18959.hp2 NA18960.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	364	0.0082	444	c.18 others(455): Show c.1842_*1843insATATATATATATATATATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACGC CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCCA CCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCA TGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTCG GCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGCT GGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAATC CTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCAT GCCTGCCTAT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1747		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735557	A A	ATAGGCAG others(437): Show ATAGGCAGGCATGGTAGCTCATACTTGTAGACCCAGCTACTTGGGAGGCT GAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGTGAGCTATGATTGCCCT GCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTGTCTTTAAAAATATATA TTTGGGATGCCGAGGCTGGCAGATCACAAGGTCAGGAGATCAAGACCATC CTGGTGAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTTGTAGTGAGCCGAGATT GTGCTACTGCACTCCAGCCTGGGCAACAGAGCGAGACGCCATCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	444	c.18 others(455): Show c.1840_*1841insATATATATATATATATTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTA	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1745		chr1	TogoVar
MYO1F_chr19_8515778_8582442	8543894	G G	GTGGTGGT others(437): Show GTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTG CTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGG TGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGT GGTGGTGGTGGTGCTGGTGCTGGTGCTGGTGGTGGTGCTGGTGGTGGCGG TGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGGCGGTGC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	342	0.0029	444	c.152 others(461): Show c.1524+402_1524+403insGCACCGCCACCGCCACCGCCACCGCCAC CGCCACCGCCACCGCCACCGCCACCACCAGCACCACCACCAGCACCAGCA CCAGCACCACCACCACCACCACCACCAGCACCACCAGCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCAGCACCACCACCACCACCAC CAGCACCACCAGCACCACCAGCACCACCACCACCACCACCAGCACCACCA GCACCACCACCACCACCACCACCACCACCACCACCAGCACCACCAGCACC ACCACCACCACCACCAGCACCACCAGCACCACCACCACCACCACCACCAC CACCACCACCACCACCACCAGCACCACCACCACCACCACCACCACCACCA CCACCAGCACCACCAGCACCACCACCACCACCACCAGCACCACCAGCACC ACCACCACCACCACCA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(437): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATCTATCGATAATACACATCTATGTATTATCTATCGAT AGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0048 a0003c0003t0002g0048	1	170	0.0059	444	c.332 others(463): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGATAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACA TCTATGTATTATCTATCGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(437): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAA TACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATCTAT CGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0112 a0004c0009t0005g0113 a0004c0009t0005g0112 a0004c0009t0005g0113	2	170	0.0118	444	c.332 others(463): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAATA CACATCTATGTATTATCTATCGATAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACA TCTATGTATTATATATCGATAGATAATACACATCTATGTATTATCTATCG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(437): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAA TACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACA CATCTATGTATTATATATCGATAGATAATACACATCTATGTATTATCTAT CGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0116 a0004c0009t0005g0116	1	170	0.0059	444	c.332 others(463): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAATA CACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATATATCGATAGATAATACACA TCTATGTATTATATATCGATAGATAATACACATCTATGTATTATCTATCG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40084517	G G	GTAGATAA others(437): Show GTAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTA TGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAG ATAATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTA TTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAA TACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTAT CTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACA CATCTATGTATTATCTATCGATAATACACATCTATGTATTATCTATCGAT AGATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATG TATTATCTATCGATAGATAATACACATCTATGTATTATCTATCGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0034 a0002c0011t0003g0034	1	170	0.0059	444	c.332 others(463): Show c.332+40271_332+40272insCTATCGGTAGATAATACACATCTATG TATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGAT AATACACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATT ATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGTAGATAATA CACATCTATGTATTATCTATCGGTAGATAATACACATCTATGTATTATCT ATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAATACACA TCTATGTATTATCTATCGATAATACACATCTATGTATTATCTATCGATAG ATAATACACATCTATGTATTATCTATCGATAGATAATACACATCTATGTA TTATCTATCGATAGATAATACACATCTATGTATTATCTATCGATAGATAA TACACATCTATGTATTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1_chr20_64159452_64247253	64176333	C C	CCTCCTGC others(437): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCT GCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0005 a0001c0013t0005	a0001c0013t0005g0106 a0001c0013t0005g0106	1	223	0.0045	444	c.-99 others(463): Show c.-99+11696_-99+11697insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCAT TTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCAPG2_chr7_158626169_158709804	158667551	C C	CCTTACCC others(437): Show CCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCG CCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGG GTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	378	0.0027	444	c.148 others(463): Show c.1480-2802_1480-2801insCGGGGGGCGGAGGGACCCAGTAGTGG GTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGG GACCCAGTAGTGGGTAAG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NGEF_chr2_232873701_233018256	232900772	T T	TGTCACTC others(437): Show TGTCACTCATATACACGTTCACTCACATTCACTCACACACACGCTCTCAC AGTCACTCATATACACGTTCACTCACATTCACTTAGACACATGCTCTCAC AGTCACTCATATACACGTTCACTCACATTCACTCACACACACACTCTCAC AGTCACTCATATACACGTTCACTCACATTCACTCACACACACTCTCACAG TCACTCATATACACGTTCACTCACATTCACACACACACGCTCTCACAGTC ACTCATATACACGTTCACTCACATTCACTCACACACACACGCTCTCACTC ATATACACGTTCACTCACATTCACTCACACACACACGCTCTCACAGTCAC TCATATACACGTTCACTCACATTCACTCACACACACACGCTCTCTCAGTC ACTCATATACACGTTCACACATTCACTCACACACACACGCTCTCA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0238 a0001c0001t0016g0238	1	362	0.0028	444	c.829 others(461): Show c.829-5857_829-5856insTGAGAGCGTGTGTGTGTGAGTGAATGTG TGAACGTGTATATGAGTGACTGAGAGAGCGTGTGTGTGTGAGTGAATGTG AGTGAACGTGTATATGAGTGACTGTGAGAGCGTGTGTGTGTGAGTGAATG TGAGTGAACGTGTATATGAGTGAGAGCGTGTGTGTGTGAGTGAATGTGAG TGAACGTGTATATGAGTGACTGTGAGAGCGTGTGTGTGTGAATGTGAGTG AACGTGTATATGAGTGACTGTGAGAGTGTGTGTGAGTGAATGTGAGTGAA CGTGTATATGAGTGACTGTGAGAGTGTGTGTGTGAGTGAATGTGAGTGAA CGTGTATATGAGTGACTGTGAGAGCATGTGTCTAAGTGAATGTGAGTGAA CGTGTATATGAGTGACTGTGAGAGCGTGTGTGTGAGTGAATGTGAGTGAA CGTGTATATGAGTGAC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(437): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGGAGGGGGAGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGG AAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGA AGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGA GGAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGG AGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGG GGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0114 a0001c0001t0008g0114	1	344	0.0029	444	c.154 others(461): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCTCCCCTCCTCCCC CCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(437): Show AGGAGGGGAGGGGAGGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGG AAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGA AGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGA GGAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGG AGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGG GGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0025 a0001c0001t0041g0025	1	344	0.0029	444	c.154 others(461): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCC CCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(437): Show GGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGA GGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGG GAAGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAG GGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGG GAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGA GAGGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0171 a0001c0001t0039g0171	1	344	0.0029	444	c.154 others(461): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCC CCTCCTCCCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(437): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATTATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0007 a0002c0011t0007	a0002c0011t0007g0014 a0002c0011t0007g0014	1	308	0.0033	444	c.730 others(461): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(437): Show TCCTCTCCTCCCTCTCCTCTCCTCTCCTCTGCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCC CTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCC CCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTC CCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCC CTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0156 a0001c0001t0034g0156	1	326	0.0031	444	c.433 others(461): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAAGGGGAGGGGGGGAGGGTGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGCAGAGGAGAGGAGA GGAGAGGGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTM_chr11_131365615_132341822	131681088	T T	TAGGCATG others(437): Show TAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGCCTGTGTCTGTG TCTGTGAGTGCCTGTGTGTACCTGTGTAGGCATGTGGGCTTCTGTGTCTG TGTGTGAGATCATGTCTGTGTCTGTGAGTGCCTGTGTGTGTCTGTGTAGG CATGTGTGCCTCTGTATCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTG GGAGTGCCTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTAGG CATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGTCTGTGTCTGTGTCTG TGAGTGCCTGTGTGTGTGCGTCTGTGTAGGCATGTGTGCCTCTGTGTGTG AGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGTGCATATG TTTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGAGATCATGC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	86	0.0116	444	c.83- others(463): Show c.83-230476_83-230475insAGGCATGTGTGCCTCTGTGTCTGTGT GTGAGATCATGCCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTACCTGTGT AGGCATGTGGGCTTCTGTGTCTGTGTGTGAGATCATGTCTGTGTCTGTGA GTGCCTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTATCTGTGTGTGA GATCATGCCTGTGTCTGTGTCTGGGAGTGCCTGTGTGTTTGTGTGTGTGT GTGTGTGTGTGTGTCTGTGTAGGCATGTGTGCCTCTGTGTCTGTGTGTGA GATCATGTCTGTGTCTGTGTCTGTGAGTGCCTGTGTGTGTGCGTCTGTGT AGGCATGTGTGCCTCTGTGTGTGAGATCATGCCTGTGTCTGTGTCTGTGA GTGCCTGTGTGTGTGTGCATATGTTTGTGTAGGCATGTGTGCCTCTGTGT CTGTGTGTGAGATCATGC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
OR11H4_chr14_20234286_20249349	20237641	A A	ATACTATA others(437): Show ATACTATACATACTATATAGTATATATAGTATATATACTATATATACTAT AGTATATATAGCATATATACTATATATACTATAGTATATATAGCATATAT GCTATATATACTATAGTATATATAGTATATATATATACTACTATATATAT AATAGTATATATAGGATATATATATACTACTATATATAGTATATATAGTA GATATACTATATATACTATATAGTATATATAGTAGATATACTATATAGTA CATATAGTATATATACTATATCTACTATATAGTATATATACTATATATAC TATATATAGTATATATAGTATATATACTATATATAGTATATATAGTATAT ATACTGTATATAGTATATATACTATATATACTGTATATAGTATATATAGT ATATATAGTATATATACTATATATAGTATATATACTATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	439	0.0023	444	c.-17 others(455): Show c.-1702_-1701insTACTATACATACTATATAGTATATATAGTATATA TACTATATATACTATAGTATATATAGCATATATACTATATATACTATAGT ATATATAGCATATATGCTATATATACTATAGTATATATAGTATATATATA TACTACTATATATATAATAGTATATATAGGATATATATATACTACTATAT ATAGTATATATAGTAGATATACTATATATACTATATAGTATATATAGTAG ATATACTATATAGTACATATAGTATATATACTATATCTACTATATAGTAT ATATACTATATATACTATATATAGTATATATAGTATATATACTATATATA GTATATATAGTATATATACTGTATATAGTATATATACTATATATACTGTA TATAGTATATATAGTATATATAGTATATATACTATATATAGTATATATAC TATATATATG	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1644		chr14	TogoVar
OR2AT4_chr11_75076753_75101876	75098814	G G	GGACACTC others(437): Show GGACACTCTGTATCTAGCTACTCTGGTGGGGCCTTGGAGAACCTTTGTGT CCATACTCTGTATCTAACTAATCTGGTGGGGACGTTGAGAACATTTCTGT CTAGCTCAGGGTTTGTGAGTGCACCAGTCGACACTCTGTAGCTGCTCTGG TGGGGCCTTGGAGAATCTTTATGTCTAGCTCAGGGATTGTAAATACACCA ATCGGCACTCTGTGTCTAGCTCAAGGTTTGTAAACACACCAATCAGGACC CTGTGTCTAGCTCAGGGTTTGTGAGTGCACCAATCGACACTCTGTATCTA GCTGCTCTGGTGGGGCCTTGGAGAACCTTTGTGTCTAGCCCAGGGATTGT AAATACACCAATCGGCACTCTGTGTCTAGCTCAAGGTTTGTAAACACACC AATCAGCACCCTGTGTCTAGCTCAGGGTTTGTGAGTGCACCAATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02451.hp2 others(8): Show HG02055.hp1 HG02145.hp1 HG02451.hp2 HG02572.hp1 HG02723.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03139.hp2 NA19030.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0008 a0001c0003 a0005c0008	a0001c0003t0010 a0001c0003t0016 a0001c0003t0022 others(2): Show a0001c0003t0010 a0001c0003t0016 a0001c0003t0022 a0001c0003t0041 a0005c0008t0022	a0001c0003t0010g0010 a0001c0003t0016g0031 a0001c0003t0022g0112 others(2): Show a0001c0003t0010g0010 a0001c0003t0016g0031 a0001c0003t0022g0112 a0001c0003t0041g0111 a0005c0008t0022g0110	11	416	0.0264	444	c.-26 others(455): Show c.-2639_-2638insAATTGGTGCACTCACAAACCCTGAGCTAGACACA GGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGACACAGAGTGCCGA TTGGTGTATTTACAATCCCTGGGCTAGACACAAAGGTTCTCCAAGGCCCC ACCAGAGCAGCTAGATACAGAGTGTCGATTGGTGCACTCACAAACCCTGA GCTAGACACAGGGTCCTGATTGGTGTGTTTACAAACCTTGAGCTAGACAC AGAGTGCCGATTGGTGTATTTACAATCCCTGAGCTAGACATAAAGATTCT CCAAGGCCCCACCAGAGCAGCTACAGAGTGTCGACTGGTGCACTCACAAA CCCTGAGCTAGACAGAAATGTTCTCAACGTCCCCACCAGATTAGTTAGAT ACAGAGTATGGACACAAAGGTTCTCCAAGGCCCCACCAGAGTAGCTAGAT ACAGAGTGTC	OR2AT4	ENSG00000171561.4	transcript	ENST00000641504.1	protein_coding		1939		chr11	TogoVar
OSGIN1_chr16_83948240_83971332	83950631	G G	GCACATAC others(437): Show GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATGT GCACACATGCACATACATACCGGCACACGTACACACATGCACACATGAAC ACATGTGCACACGTACACACACATGCACACATGAGCACATGTGCACACAT GCACATACATACTGGCACACACGTACATGCACACATGAGCACATGTGCAC ACATGCACATACATACTGGCACACGTACACACACGCACACATGAGCACAT GTGCACACATGCACATACATACTGGCACACACGTACACACATGCATACAT GAGCACATGTGCACACATGCACATACATACTGGCACACGTACACGCACAC ATGAGCACATGTGCACACATGCCCATACACACTGGCACACACGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	350	0.0029	444	c.-27 others(455): Show c.-2772_-2771insCACATACATACTGGCACACACGTACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACACGTACATGCA CACATGAGCACATGTGCACACATGCACATACATACCGGCACACGTACACA CATGCACACATGAACACATGTGCACACGTACACACACATGCACACATGAG CACATGTGCACACATGCACATACATACTGGCACACACGTACATGCACACA TGAGCACATGTGCACACATGCACATACATACTGGCACACGTACACACACG CACACATGAGCACATGTGCACACATGCACATACATACTGGCACACACGTA CACACATGCATACATGAGCACATGTGCACACATGCACATACATACTGGCA CACGTACACGCACACATGAGCACATGTGCACACATGCCCATACACACTGG CACACACGTA	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2608		chr16	TogoVar
PCDH11Y_chrY_4995296_5747224	5525239	A A	AGGGGGGA others(437): Show AGGGGGGAGGAGGCGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGG GGAGGAGGAGGGGGAGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGG TGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGG AGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGA GGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGGGGAGGGGGAGG GGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAG GAGGGGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGTGGGGAGGAGGAGG GGGCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGG AGGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGTGGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0093 a0003c0003t0004g0093	1	115	0.0087	444	c.305 others(465): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGGGAGGAGGAGGGG GCAGGAGGAGGAGTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAG GGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAG GAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGA GGGGGAGGGGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGG GGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAG GAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGG GTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAG GAGTGGGAGGAGGAGGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(437): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCCTGCA CCTCCCGCCCCTCACCCTGCACCTCCCCCCTCACCCTGCACCTCCCCCAA TCCTTTACCTCCCCCCACCCTCCATCTGCCCCCCAACCTGCACCTCCCCC ATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCACTCACCCTCCACCTC CCCCCCACCCTGCACCTCCCCCCTCCCCCCTGCACCTCCCGCCCTCACCC TGCACCTCCCCCCATCCTTTACCTCCTCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCCTTCATCTCCCC CCTCACCCTCCACCTCCCCCCCGCACCCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	360	0.0028	444	c.36 others(455): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCCTGCACCTCCCGCCCCTCACCCTGCACCTCCCCCCTCACC CTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCCA ACCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCA CTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCCTCCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCTCCCCCACC CTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCT CCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCCTGCACC TCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PIGQ_chr16_564968_589109	571084	T T	TGTGTGTG others(437): Show TGTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCC TGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTA TGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTG CCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTA GCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCC CGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTAGCCTT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGT GTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0114 a0002c0001t0001g0114	1	408	0.0025	444	c.-10 others(461): Show c.-10+1004_-10+1005insCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGT GTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGT GGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTG GTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGGGGGGGGGGGCTA GCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC GTGTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKP3_chr11_389209_409908	401787	C C	CCCGCTCA others(437): Show CCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCCGCTCACACCCGACCC GCTCACACCCGACCCGCTCACACCCGACCGCTCACCCCCGACCCGCTCAC CCCCGACCCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCG GACCCTGCTCACACCGGACCCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACACCCGGGCCC CGCTCACACCCGCCCCCGCTCACACCCCGGCCCCGCTCACACCCGACCCG CTCACACCCGACCCGCTCACTCCCCCGGCCCCGCTCACCCCGGCCCCGCT CACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCCTCACAC CCGCCCCGCTCACCCCGGACCCCGCTCACCCCCCGGCCCCGCTCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0001 a0014c0029t0001	a0014c0029t0001g0121 a0014c0029t0001g0121	1	216	0.0046	444	c.173 others(463): Show c.1737+1084_1737+1085insGCTCACCCCCGACCCGCTCACCCCGG GCCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACACCCGACC GCTCACCCCCGACCCGCTCACCCCCGACCCCGCTCACCCCAGCCCCGCTC ACCCCCGACCCGCTCACCCCGGACCCTGCTCACACCGGACCCCCGCTCAC ACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCC GACCCGCTCACACCCGGGCCCCGCTCACACCCGCCCCCGCTCACACCCCG GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACTCCCCCGGC CCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGC TCACCCGGGACCCCCTCACACCCGCCCCGCTCACCCCGGACCCCGCTCAC CCCCCGGCCCCGCTCACC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(437): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGAG GAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGG AGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGG GAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAGCGG CGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGG GGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGG GGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	354	0.0028	444	c.-27 others(453): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTC CTCCCCTCCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCCTCTCCCCTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCGCCCCTAACCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTC CCCTGCCCGCCGCTGCCGTCCCCGCCTTCCTCCCCTCCCCTCCCCCCCTC CTCCCCTTCCCCTCCCTCCCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTG CCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCTCCCTCCTCCCCTCC CCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCTCCTCCCCCTCCCCT GCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCC GTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATCTA others(437): Show TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	168	0.0060	444	c.303 others(463): Show c.303+34087_303+34088insGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TGTATCTA others(437): Show TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATCTATTATATACATACATGTATGTATCTATTATATACATACATGTA TGTATGTATTATATACATACATGTATGTATGTATTATATACATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01192.hp2 HG01168.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0003g0006 a0001c0001t0001g0149 a0001c0001t0003g0006	2	168	0.0119	444	c.303 others(463): Show c.303+34087_303+34088insGTATGTATATAATACATACATACATG TATGTATATAATACATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATACATACATGTATGTATATAATAGATACATACATG TATGTATATAATAGATAC	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PRKCZ_chr1_2045411_2190395	2122880	G G	GGTAGTTA others(437): Show GGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGC ATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	286	0.0035	444	c.335 others(463): Show c.335-12380_335-12379insAGTTAGGGTCATGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGT TCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123574	G G	GGTAGTTA others(437): Show GGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCT GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCA CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGC ATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0117 a0001c0003t0014g0117	1	286	0.0035	444	c.335 others(463): Show c.335-11675_335-11674insTGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGG TGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGC TGTAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGCTGTAGTTAGGGTCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123660	C C	CGGCTGTA others(437): Show CGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCA TGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp2 HG01261.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0072 a0001c0003t0001g0255 a0001c0003t0001g0072 a0001c0003t0001g0255	2	286	0.0070	444	c.335 others(463): Show c.335-11600_335-11599insCTGTAGTTAGGGTCATGGTGGTAGTT AGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGTGGTAGTT AGGGTCACGGCTGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTAAATAT others(437): Show GTAAATATATACATATACTGGTAGATACGTATATAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTAAATATATACATATACTGGTAGAT ACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATAC ATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT ATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATAT ACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATAT AAATATATACATATACTGGTAGATACGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0009 a0001c0005t0001g0009	1	80	0.0125	444	c.113 others(465): Show c.1132+30181_1132+30182insAATATATACATATACTGGTAGATA CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATA CTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTATATAA others(437): Show GTATATAAATATATACATATACTGGTAGATACGTATGTAAATATATACAT ATACTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGT AGATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATAC ATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT ATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATAT ACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATAT AAATATATACATATACTGGTAGATACGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0079 a0001c0018t0003g0079	1	80	0.0125	444	c.113 others(465): Show c.1132+30057_1132+30058insTATAAATATATACATATACTGGTA GATACGTATGTAAATATATACATATACTGGTAGATACGTAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACG TATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATA TACTGGTAGATACGTATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985469	G G	GTATGTAA others(437): Show GTATGTAAATATATACATATACTGGTAGATACGTAAATATATACATATAC TGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAA ATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGGT AGATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATAC ATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGT ATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATAT ACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATAT AAATATATACATATACTGGTAGATACGTATATAAATATATACATATACTG GTAGATACGTATATAAATATATACATATACTGGTAGATACGTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03486.hp2 HG01891.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0058 a0002c0007t0001g0054 a0001c0001t0001g0058 a0002c0007t0001g0054	2	80	0.0250	444	c.113 others(465): Show c.1132+30057_1132+30058insTGTAAATATATACATATACTGGTA GATACGTAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACG TATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATA TACTGGTAGATACGTATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7985614	C C	CTGGTAGA others(437): Show CTGGTAGATACGTAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACG TATATAAATATATACATATACTGGTAGATACGTATATAAATATATACATA TACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATA TAAATATATACATATACTGGTAGATACGTATATAAATATATACATATACT GGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAA TATATACATATACTGGTAGATACGTATATAAATATATACATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	80	0.0125	444	c.113 others(465): Show c.1132+30213_1132+30214insAATATATACATATACTGGTAGATA CGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATACA TATACTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTA TATAAATATATACATATACTGGTAGATACGTATATAAATATATACATATA CTGGTAGATACGTATATAAATATATACATATACTGGTAGATACGTATATA AATATATACATATACTGGTAGATACGTATATAAATATATACATATACTGG TAGATACGTATATAAATATATACATATACTGGTAGATACGTATATAAATA TATACATATACTGGTAGATACGTATATAAATATATACATATACTGGTAGA TACGTATATAAATATATACATATACTGGTAGATACGTATATAAATATATA CATATAATGGTAGATACGTA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
RBFOX3_chr17_79084345_79616051	79554353	C C	CACCTGGC others(437): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	154	0.0065	444	c.-32 others(465): Show c.-320+56472_-320+56473insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(437): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0030 a0001c0001t0020g0030	1	154	0.0065	444	c.-32 others(465): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(437): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0089 a0001c0001t0004g0089	1	154	0.0065	444	c.-32 others(465): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555423	G G	GATAGTGA others(437): Show GATAGTGATGGCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAG TGATGGTGGTGATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTG ATGGTGATGATGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAAC GGTGGTGATAATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAA TGGTGATCATGTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTG GTGATGGTGGTGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGAT TATGATAGTAGTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGA TGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATG GTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20805.hp2 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0092 a0001c0001t0010g0022 a0001c0001t0004g0092 a0001c0001t0010g0022	2	154	0.0130	444	c.-32 others(465): Show c.-320+55402_-320+55403insTATCACTATTATCACCACCGTTAC CACCACCACTGCCATCACCACCATTATCACTATTATCACCACCGTTACCA CCACCACTGCCATCACCACCATCATCGCCATTATCACCATTACCATTGCC ATCACCATCACTACTATCATAATCACCCTCACCGCCATCACTGCCATCAT CACCATTGCCACCACCATCACCACCATCATTACTATCATCACCACCACCA CCATCACTGACATGATCACCATTACCACCACCACCACTGCCGTCACCACC ATTATCACTATTATCACCACCGTTACCACCACCACTGCCATCACCACCAT CATTACTATCATCATCACCATCACCACCATCATCGCCATTATCACCATTA CCATCGCCATCACCACCATCACTACTCTCATAATCACCATCACTGCCATC ATCACCATTGCCATCACTAT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM33_chr7_155639661_155786480	155673695	T T	TATACATA others(437): Show TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATATA CACGCATATACATACACACGTGTATATATATACACGCATATACATACACA CGTGTATATATATACACGCATATACATACACACGTGTATATATATACACG CATATACATACACACGTGTATATATATACACGCATATACATACACACGTG TATATATATACACGCATATACATACACACGTGTATATATACACGC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19084.hp2 NA18983.hp2 NA19084.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0261 a0001c0003t0009g0262 a0001c0003t0009g0261 a0001c0003t0009g0262	2	306	0.0065	444	c.171 others(459): Show c.171+783_171+784insCATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATATACACGCATATACATACACACGTGTATATATATACACGCA TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATACACGCATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(437): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGG GAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGG GGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGA GGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGG AGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGG GGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	318	0.0031	444	c.36 others(455): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAGGGG AGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGG GGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAGGGG AGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAG GAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGA GGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(437): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGAGGGAGGGGGGG AGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGG GGGAGGGGGAGGAGGAGGAGGAGGGGAGGGGGAGGAGGGGAGGAGGGGAG GGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGGAGGGGGAGGGGGAGG AGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGG GGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	318	0.0031	444	c.36 others(455): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGAGGGAGGGGGGGAGGAGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGG GGAGAGGGGAGGAGGGGGAGGGGGAGGAGGAGGAGGAGGGGAGGGGGAGG AGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGGGAGG AGGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGAAGGGGAGGG GGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGGAGGAGGGGA GGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar

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