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	132396679	T T	TATATATA others(303): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATTCATATATAGATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATTCATATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATATTCATATATATT CATATATATTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0044 a0001c0001t0014g0044	1	129	0.0078	310	c.343 others(327): Show c.343-4346_343-4345insGAATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATCTATATATGAATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATATATGAAT CTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396705	T T	TATATATA others(303): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATATATTCATATATATTCATATATA TATTCATATATATATTCATATATATATTCATATATATTCATATATATTCA TATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATATTCATATATATATTCATATATATTCATATATATA TTCATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATATTC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0168 a0001c0001t0013g0168	1	155	0.0065	310	c.343 others(327): Show c.343-4372_343-4371insGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATGAATATATATATGAATATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATGAATAT ATATGAATATATATATGAATATATATATGAATATATATATGAATATATAT GAATATATATATGAATATATATGAATCTATATATGAATATATATATGAAT CTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBP_chr18_76973833_77137783	77130404	T T	TGAAGATA others(303): Show TGAAGATATGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02071.hp1 HG02451.hp2 others(2): Show HG01243.hp2 HG02071.hp1 HG02451.hp2 HG02622.hp1 HG02809.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0008	a0001c0001t0001 a0001c0002t0028 a0003c0004t0013 others(1): Show a0001c0001t0001 a0001c0002t0028 a0003c0004t0013 a0004c0008t0012	a0001c0001t0001g0142 a0001c0002t0028g0390 a0003c0004t0013g0136 others(2): Show a0001c0001t0001g0142 a0001c0002t0028g0390 a0003c0004t0013g0136 a0003c0004t0013g0170 a0004c0008t0012g0143	5	369	0.0136	310	c.-26 others(327): Show c.-26+2175_-26+2176insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTCATATCTTC	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	1/8			chr18	TogoVar
MECOM_chr3_169078507_169668712	169167961	T T	TAAAACAT others(303): Show TAAAACATTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	150	0.0067	310	c.376 others(329): Show c.376-24130_376-24129insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAGAATGTTTT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169167966	C C	CATTCTTG others(303): Show CATTCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCT AAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCAC TGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	160	0.0063	310	c.376 others(329): Show c.376-24135_376-24134insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAAGAAT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	2/16			chr3	TogoVar
MEI4_chr6_77648039_77932045	77654537	T T	TAAAAAAT others(303): Show TAAAAAATTGAAAACAATGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAG TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02055.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0224 a0001c0001t0014g0225 a0001c0001t0007g0224 a0001c0001t0014g0225	2	191	0.0105	310	c.-15 others(327): Show c.-15+1462_-15+1463insGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAATTGAAAACAAT	MEI4	ENSG00000269964.4	transcript	ENST00000684080.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
MELK_chr9_36567895_36682682	36645304	T T	TGAAAAAG others(303): Show TGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGT CGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGC CCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0192 a0001c0006t0001g0192	1	220	0.0045	310	c.921 others(327): Show c.921+2233_921+2234insTTTTTTTTTTTTTTTTTTTGAGACAGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCGAAAAAGTCTTT	MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
METTL24_chr6_110238940_110363349	110305537	C C	CAAAAGAA others(303): Show CAAAAGAAGACATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02258.hp1 HG03654.hp2 HG00642.hp1 HG02258.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0012 a0001c0002t0008 a0001c0001t0008 a0001c0001t0012 a0001c0002t0008	a0001c0001t0008g0188 a0001c0001t0012g0199 a0001c0002t0008g0040 a0001c0001t0008g0188 a0001c0001t0012g0199 a0001c0002t0008g0040	3	190	0.0158	310	c.558 others(327): Show c.558-6388_558-6387insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCTCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAAATGTCTTCTTTT	METTL24	ENSG00000053328.9	transcript	ENST00000338882.5	protein_coding	3/4			chr6	TogoVar
METTL2B_chr7_128471748_128511602	128510773	A A	AAATGTAT others(303): Show AAATGTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAGCTCCGCC TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp2 HG02976.hp1 others(2): Show HG02129.hp1 HG02129.hp2 HG02976.hp1 NA18961.hp1 NA18992.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0002c0013 a0001c0002 a0002c0004 a0002c0013	a0001c0002t0007 a0002c0004t0002 a0002c0004t0025 others(1): Show a0001c0002t0007 a0002c0004t0002 a0002c0004t0025 a0002c0013t0002	a0001c0002t0007g0004 a0002c0004t0002g0042 a0002c0004t0002g0043 others(2): Show a0001c0002t0007g0004 a0002c0004t0002g0042 a0002c0004t0002g0043 a0002c0004t0025g0163 a0002c0013t0002g0003	5	307	0.0163	310	c.88 others(321): Show c.8857_*8858insAATGTATTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTC ACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCC	METTL2B	ENSG00000165055.16	transcript	ENST00000262432.13	protein_coding		4172		chr7	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(303): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	102	0.0098	310	c.107 others(329): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MIOS_chr7_7561884_7613932	7575908	T T	TTTGTTTC others(303): Show TTTGTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02293.hp1 HG01952.hp2 HG02293.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0017 a0001c0009t0011g0017	2	327	0.0061	310	c.139 others(329): Show c.1393+1720_1393+1721insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTGTTTCT	MIOS	ENSG00000164654.16	transcript	ENST00000340080.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
MPC1_chr6_166359919_166387940	166360865	G G	GAGAAATG others(303): Show GAGAAATGATTATTTTTTTTTTTTTTTTTTGAGACGGAGTCCCGCTGTTT AGCCCAGGCCGGATTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC CTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCTTGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	323	0.0031	310	c.45 others(321): Show c.4563_*4564insGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACC ATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAATCCGGCCTGGGCTAAACAGCGGGACTCCGTCTCAAA AAAAAAAAAAAAAAATAATCATTTCT	MPC1	ENSG00000060762.20	transcript	ENST00000360961.11	protein_coding		4053		chr6	TogoVar
MRPS23_chr17_57829781_57855044	57848854	C C	CAAGAAGT others(303): Show CAAGAAGTTAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATC CTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG CGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp1 HG01192.hp2 others(28): Show HG00597.hp1 HG01106.hp1 HG01192.hp2 HG01243.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01978.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp2 HG02738.hp1 HG02922.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp2 NA18950.hp2 NA18998.hp1 NA19000.hp1 NA19056.hp1 NA19057.hp2 NA19075.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 others(12): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0041 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0004t0058	a0001c0001t0008g0021 a0001c0001t0008g0053 a0001c0001t0008g0226 others(21): Show a0001c0001t0008g0021 a0001c0001t0008g0053 a0001c0001t0008g0226 a0001c0001t0008g0228 a0001c0001t0008g0229 a0001c0001t0015g0052 a0001c0001t0015g0220 a0001c0001t0015g0232 a0001c0001t0016g0012 a0001c0001t0026g0217 a0001c0001t0026g0233 a0001c0001t0028g0230 a0001c0001t0028g0231 a0001c0001t0029g0214 a0001c0001t0029g0216 a0001c0001t0041g0215 a0001c0001t0052g0218 a0001c0001t0054g0219 a0001c0001t0055g0221 a0001c0001t0056g0222 a0001c0001t0057g0223 a0001c0001t0059g0224 a0001c0001t0060g0225 a0001c0004t0058g0227	31	388	0.0799	310	c.215 others(325): Show c.215+385_215+386insTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCAGCTAACTTCTT	MRPS23	ENSG00000181610.13	transcript	ENST00000313608.13	protein_coding	2/4			chr17	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(303): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCCGCC CCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGC GCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02965.hp1 HG03041.hp1 others(2): Show HG00639.hp1 HG02965.hp1 HG03041.hp1 HG03195.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0001 a0001c0009t0001 a0001c0001t0001 a0001c0002t0001 a0001c0009t0001	a0001c0001t0001g0251 a0001c0002t0001g0115 a0001c0009t0001g0088 others(2): Show a0001c0001t0001g0251 a0001c0002t0001g0115 a0001c0009t0001g0088 a0001c0009t0001g0116 a0001c0009t0001g0138	5	63	0.0794	310	c.241 others(329): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MS4A4E_chr11_60195270_60248137	60206479	A A	ATATATAT others(303): Show ATATATATATGTATATATATATATGTATATATATATGTATATATATATGT ATATATATGTATATATGTATATATATGTATATATATGTATATATATGTAT ATATATGTGTATATATGTATATATATGTATATATATGTATATATATATGT GTATATATATGTATATATATGTATATATATATGTGTATATATATGTATAT ATATGTATATATATGTATATATATGTATATATATGTATATATATGTATAT ATATGTATATATATATGTATATATATATGTATATATATGTATATATATAT GTATATATATG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0028 a0004c0005t0028	a0004c0005t0028g0187 a0004c0005t0028g0187	1	365	0.0027	310	c.484 others(325): Show c.484-660_484-659insCATATATATACATATATATATACATATATA TACATATATATATACATATATATATACATATATATACATATATATACATA TATATACATATATATACATATATATACATATATATACATATATATACACA TATATATATACATATATATACATATATATACACATATATATATACATATA TATACATATATATACATATATACACATATATATACATATATATACATATA TATACATATATATACATATATACATATATATACATATATATATACATATA TATATACATATATATATATACATATATATA	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MTPAP_chr10_30304801_30354278	30325833	T T	TCCCACCC others(303): Show TCCCACCCCACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0215 a0001c0001t0022g0215	1	258	0.0039	310	c.992 others(325): Show c.992+590_992+591insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAGTGGGGTGGG	MTPAP	ENSG00000107951.15	transcript	ENST00000263063.9	protein_coding	5/8			chr10	TogoVar
MTRR_chr5_7864148_7906113	7864812	G G	GAAAAAAA others(303): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02630.hp2 others(2): Show HG02486.hp2 HG02572.hp2 HG02630.hp2 HG02970.hp2 HG03453.hp1	a0004 a0011 a0013 a0004 a0011 a0013	a0004c0018 a0011c0013 a0013c0017 a0004c0018 a0011c0013 a0013c0017	a0004c0018t0004 a0011c0013t0004 a0013c0017t0009 a0004c0018t0004 a0011c0013t0004 a0013c0017t0009	a0004c0018t0004g0280 a0004c0018t0004g0281 a0011c0013t0004g0056 others(2): Show a0004c0018t0004g0280 a0004c0018t0004g0281 a0011c0013t0004g0056 a0013c0017t0009g0285 a0013c0017t0009g0286	5	422	0.0118	310	c.-44 others(321): Show c.-4429_-4428insAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAA	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding		4335		chr5	TogoVar
MTRR_chr5_7864148_7906113	7864812	G G	GAAAAAAA others(303): Show GAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0005 a0010c0012t0005	a0010c0012t0005g0282 a0010c0012t0005g0282	1	418	0.0024	310	c.-44 others(321): Show c.-4429_-4428insAAAAAAAATCGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAA	MTRR	ENSG00000124275.15	transcript	ENST00000440940.7	protein_coding		4335		chr5	TogoVar
MUSK_chr9_110663791_110811558	110808955	T T	TCTGACTT others(303): Show TCTGACTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCC CCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGAC TACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0153 a0001c0001t0034g0153	1	284	0.0035	310	c.79 others(321): Show c.7967_*7968insCTGACTTTCTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGAAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCC	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding		2398		chr9	TogoVar
MXRA5_chrX_3303565_3351652	3326182	T T	TTTATAAT others(303): Show TTTATAATTATAATTTATAATATATAATTTATAATTATAAATTATAAATT ATAATATATAATTTATATATTATAAATTTATAATATATATATATAATTTA TATATTATAATTTATAATATATAATTTATAATTATAAGTTATATATTATA ATTTTTAATTATAAGTTATAATATATAATTTATAATTATAAGTTATAATA TATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTT ATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTA TAATATATAAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0022 a0022	a0022c0035 a0022c0035	a0022c0035t0007 a0022c0035t0007	a0022c0035t0007g0144 a0022c0035t0007g0144	1	277	0.0036	310	c.710 others(327): Show c.710-1208_710-1207insGTTATATATTATAACTTATAAGTTATAT ATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAATTATATATTATAACTTATAATTAAAAATTATAATATATAACTTAT AATTATAAATTATATATTATAAATTATAATATATAAATTATATATATATA TTATAAATTTATAATATATAAATTATATATTATAATTTATAATTTATAAT TATAAATTATATATTATAAATTATAATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MYL2_chr12_110905845_110925579	110906009	A A	AAAATATA others(303): Show AAAATATATATTATATTATATATAATATATATTATATAAAATATATATTA TATTATATATAATATATATTATATAAAATATATATTATATTATATAATAT ATATTATATAAAATATATATTATATTATATAATATATATTTTATAAAATA TATATTATATTATATAATATATATTTTATAAAATATATATTATATTATAT ATAATATATATTATATAAAATATATATTATATTATATAATATATATTATA TAAAATATATATTATATTATTATAATATATATTATATAAAATATATATTA TATTATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0027	310	c.50 others(321): Show c.5067_*5068insATTATATAATATAATATATATTTTATATAATATA TATTATAATAATATAATATATATTTTATATAATATATATTATATAATATA ATATATATTTTATATAATATATATTATATATAATATAATATATATTTTAT AAAATATATATTATATAATATAATATATATTTTATAAAATATATATTATA TAATATAATATATATTTTATATAATATATATTATATAATATAATATATAT TTTATATAATATATATTATATATAATATAATATATATTTTATATAATATA TATTATATATAATATAATATATATTT	MYL2	ENSG00000111245.17	transcript	ENST00000228841.15	protein_coding		4835		chr12	TogoVar
MYNN_chr3_169768396_169794716	169771186	A A	TTTATATT others(303): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATT TATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAA TATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	67	0.0149	310	c.-23 others(321): Show c.-2309_-2308insTTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTA TATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAA AATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATATATAAAAA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2210		chr3	TogoVar
MYO10_chr5_16656907_16941288	16716504	T T	TAAGAAGT others(303): Show TAAGAAGTATGACAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0086 a0002c0002t0086	a0002c0002t0086g0139 a0002c0002t0086g0139	1	141	0.0071	310	c.193 others(329): Show c.1930-5260_1930-5259insTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATT TTTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCTGGCCTGTCATACTTCTT	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16716504	T T	TAAGAAGT others(303): Show TAAGAAGTATGACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCA CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0072 a0002c0002t0072	a0002c0002t0072g0206 a0002c0002t0072g0206	1	141	0.0071	310	c.193 others(329): Show c.1930-5260_1930-5259insTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATT TTTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGTCATACTTCTT	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40			chr5	TogoVar
MYO10_chr5_16656907_16941288	16716504	T T	TAAGAAGT others(303): Show TAAGAAGTATGACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACAAAAAATACAAAAATTAGC CGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00438.hp2 others(121): Show HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01261.hp2 HG01433.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19070.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0013 a0014 a0015 a0019 a0021 a0022 a0023 a0024 a0030 a0032 a0033 a0034	a0001c0001 a0001c0003 a0001c0015 others(40): Show a0001c0001 a0001c0003 a0001c0015 a0001c0022 a0001c0025 a0001c0034 a0001c0037 a0001c0038 a0001c0039 a0001c0042 a0001c0043 a0002c0002 a0002c0008 a0002c0026 a0002c0054 a0003c0006 a0003c0007 a0004c0004 a0004c0061 a0005c0005 a0005c0058 a0005c0059 a0006c0009 a0006c0028 a0007c0011 a0007c0012 a0009c0010 a0010c0065 a0010c0066 a0011c0013 a0013c0019 a0013c0033 a0014c0021 a0015c0020 a0019c0063 a0021c0030 a0022c0045 a0023c0032 a0024c0062 a0030c0040 a0032c0069 a0033c0049 a0034c0050	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(110): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0026 a0001c0001t0036 a0001c0001t0063 a0001c0001t0076 a0001c0001t0089 a0001c0001t0120 a0001c0001t0126 a0001c0001t0131 a0001c0003t0005 a0001c0003t0007 a0001c0003t0011 a0001c0003t0022 a0001c0003t0059 a0001c0003t0066 a0001c0003t0138 a0001c0015t0061 a0001c0015t0112 a0001c0022t0047 a0001c0022t0156 a0001c0025t0148 a0001c0025t0149 a0001c0034t0037 a0001c0037t0146 a0001c0038t0025 a0001c0039t0154 a0001c0042t0152 a0001c0043t0091 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0015 a0002c0002t0017 a0002c0002t0026 a0002c0002t0034 a0002c0002t0051 a0002c0002t0057 a0002c0002t0078 a0002c0002t0122 a0002c0002t0124 a0002c0002t0127 a0002c0002t0132 a0002c0002t0144 a0002c0002t0153 a0002c0008t0002 a0002c0008t0011 a0002c0008t0135 a0002c0026t0121 a0002c0054t0053 a0003c0006t0010 a0003c0006t0018 a0003c0006t0024 a0003c0006t0030 a0003c0006t0106 a0003c0006t0113 a0003c0006t0129 a0003c0007t0030 a0003c0007t0033 a0003c0007t0039 a0003c0007t0099 a0004c0004t0001 a0004c0004t0004 a0004c0004t0011 a0004c0004t0100 a0004c0061t0037 a0005c0005t0012 a0005c0005t0022 a0005c0005t0090 a0005c0005t0128 a0005c0058t0150 a0005c0059t0140 a0006c0009t0006 a0006c0009t0016 a0006c0009t0044 a0006c0009t0071 a0006c0009t0097 a0006c0009t0118 a0006c0028t0018 a0007c0011t0001 a0007c0012t0001 a0007c0012t0011 a0009c0010t0010 a0009c0010t0031 a0009c0010t0032 a0009c0010t0111 a0010c0065t0108 a0010c0066t0155 a0011c0013t0007 a0011c0013t0073 a0013c0019t0001 a0013c0019t0035 a0013c0033t0133 a0014c0021t0002 a0015c0020t0028 a0015c0020t0040 a0019c0063t0007 a0021c0030t0005 a0022c0045t0048 a0023c0032t0114 a0024c0062t0046 a0030c0040t0161 a0032c0069t0006 a0033c0049t0119 a0034c0050t0034	a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 others(121): Show a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0180 a0001c0001t0002g0093 a0001c0001t0004g0086 a0001c0001t0005g0140 a0001c0001t0007g0069 a0001c0001t0008g0146 a0001c0001t0009g0248 a0001c0001t0012g0202 a0001c0001t0015g0057 a0001c0001t0018g0244 a0001c0001t0026g0241 a0001c0001t0036g0050 a0001c0001t0063g0048 a0001c0001t0076g0127 a0001c0001t0089g0183 a0001c0001t0120g0098 a0001c0001t0126g0126 a0001c0001t0131g0259 a0001c0003t0005g0199 a0001c0003t0007g0237 a0001c0003t0011g0230 a0001c0003t0022g0082 a0001c0003t0059g0052 a0001c0003t0066g0227 a0001c0003t0138g0231 a0001c0015t0061g0032 a0001c0015t0112g0009 a0001c0022t0047g0242 a0001c0022t0156g0265 a0001c0025t0148g0025 a0001c0025t0149g0201 a0001c0034t0037g0013 a0001c0037t0146g0029 a0001c0038t0025g0034 a0001c0039t0154g0263 a0001c0042t0152g0261 a0001c0043t0091g0142 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0203 a0002c0002t0005g0039 a0002c0002t0005g0043 a0002c0002t0007g0196 a0002c0002t0015g0046 a0002c0002t0017g0252 a0002c0002t0026g0253 a0002c0002t0034g0010 a0002c0002t0051g0255 a0002c0002t0057g0121 a0002c0002t0078g0097 a0002c0002t0122g0049 a0002c0002t0124g0138 a0002c0002t0127g0217 a0002c0002t0132g0145 a0002c0002t0144g0222 a0002c0002t0153g0245 a0002c0008t0002g0062 a0002c0008t0011g0114 a0002c0008t0135g0136 a0002c0026t0121g0158 a0002c0054t0053g0157 a0003c0006t0010g0051 a0003c0006t0010g0096 a0003c0006t0018g0056 a0003c0006t0024g0150 a0003c0006t0030g0134 a0003c0006t0106g0144 a0003c0006t0113g0080 a0003c0006t0129g0058 a0003c0007t0030g0059 a0003c0007t0033g0017 a0003c0007t0039g0001 a0003c0007t0099g0167 a0004c0004t0001g0071 a0004c0004t0001g0168 a0004c0004t0004g0179 a0004c0004t0011g0250 a0004c0004t0100g0133 a0004c0061t0037g0035 a0005c0005t0012g0184 a0005c0005t0022g0113 a0005c0005t0090g0116 a0005c0005t0128g0037 a0005c0058t0150g0028 a0005c0059t0140g0239 a0006c0009t0006g0040 a0006c0009t0016g0169 a0006c0009t0044g0211 a0006c0009t0071g0223 a0006c0009t0097g0212 a0006c0009t0118g0174 a0006c0028t0018g0081 a0007c0011t0001g0020 a0007c0011t0001g0103 a0007c0011t0001g0235 a0007c0012t0001g0189 a0007c0012t0001g0190 a0007c0012t0011g0188 a0009c0010t0010g0102 a0009c0010t0031g0258 a0009c0010t0032g0238 a0009c0010t0111g0067 a0010c0065t0108g0087 a0010c0066t0155g0271 a0011c0013t0007g0077 a0011c0013t0073g0065 a0013c0019t0001g0101 a0013c0019t0035g0019 a0013c0033t0133g0016 a0014c0021t0002g0111 a0015c0020t0028g0219 a0015c0020t0040g0002 a0019c0063t0007g0208 a0021c0030t0005g0018 a0022c0045t0048g0031 a0023c0032t0114g0247 a0024c0062t0046g0254 a0030c0040t0161g0270 a0032c0069t0006g0234 a0033c0049t0119g0232 a0034c0050t0034g0147	124	264	0.4697	310	c.193 others(329): Show c.1930-5260_1930-5259insTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATT TTTTGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTTGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGTCATACTTCTT	MYO10	ENSG00000145555.15	transcript	ENST00000513610.6	protein_coding	19/40			chr5	TogoVar
MYO1D_chr17_32487522_32882124	32566830	T T	TTTAAGCT others(303): Show TTTAAGCTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTG TCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCGCGCCACCATGTCCGGCTAATTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp1 HG03195.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0122 a0001c0001t0009g0044 a0001c0001t0003g0122 a0001c0001t0009g0044	2	135	0.0148	310	c.286 others(331): Show c.2864+38256_2864+38257insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAATTAGCCGGACATGGTGGCGCGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGTCGAGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAGAAGCTTAA	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	21/21			chr17	TogoVar
NAALADL2_chr3_174854334_175815548	175697904	T T	TATATGTG others(303): Show TATATGTGTATATATGTATGTATACATATATGTGTATATATGTATGTATA CATATATGTGTATATATGTATGTATACATATATGTGTATATATGTATGTA TACATATATGTGTATATATGTATGTATACATATATGTGTATATATGTATG TATACATATATGTGTATATATGTATGTATACATATATGTGTATATATGTA TGTATACATATATGTGTATATATGTATGTATACATATATGTGTATATATG TATGTATACATATATGTGTATATATGTATGTATACATATATGTGTATATA TGTATGTATAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0034 a0016c0022t0001g0034	1	64	0.0156	310	c.189 others(331): Show c.1897-39398_1897-39397insGTGTATATATGTATGTATACATAT ATGTGTATATATGTATGTATACATATATGTGTATATATGTATGTATACAT ATATGTGTATATATGTATGTATACATATATGTGTATATATGTATGTATAC ATATATGTGTATATATGTATGTATACATATATGTGTATATATGTATGTAT ACATATATGTGTATATATGTATGTATACATATATGTGTATATATGTATGT ATACATATATGTGTATATATGTATGTATACATATATGTGTATATATGTAT GTATACATATATGTGTATATATGTATGTATACATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(303): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGAGAGAG GAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGG AGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGGAGGGAGGAGGGAG GGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0308 a0001c0002t0003g0308	1	7	0.1429	310	c.887 others(327): Show c.887-6680_887-6679insGTCCCTCCCCCCTCCCTCCTCCCTCCCC CCCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTC TCCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTC TCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCC CGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTC CCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCT TCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(303): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGAGAGGA GGAGGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAG GAGGAAGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGGGAGGGAGGAGGGA GGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0325 a0001c0002t0003g0325	1	7	0.1429	310	c.887 others(327): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CCCTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCT CCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCCTCTCCTCCCTCCTC TCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCC CGCCCTCCTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTC CCTCCCTCCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCTCTCT TCCCTCCCTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NDUFA9_chr12_4644114_4699317	4661708	A A	ACTAGAGT others(303): Show ACTAGAGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTTTGCTCT GTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01192.hp1 NA21309.hp2 HG01081.hp2 HG01192.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0191 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0191	3	292	0.0103	310	c.553 others(325): Show c.553-814_553-813insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT TTTGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCTAGAGTTCTT	NDUFA9	ENSG00000139180.11	transcript	ENST00000266544.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(303): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGC CTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	253	0.0040	310	c.373 others(327): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGTCTAGTTCTCTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEPRO_chr3_112997444_113024671	113015584	C C	CAAAACTA others(303): Show CAAAACTACTTTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00673.hp2 HG02040.hp2 others(25): Show HG00423.hp1 HG00673.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp2 HG02135.hp1 HG02155.hp2 NA18941.hp2 NA18942.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18969.hp2 NA18972.hp1 NA18975.hp2 NA18987.hp2 NA18990.hp2 NA18997.hp1 NA19000.hp2 NA19001.hp2 NA19006.hp2 NA19058.hp2 NA19064.hp1 NA19067.hp1 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0014 others(3): Show a0002c0002t0004g0009 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0122 a0002c0002t0004g0123 a0002c0002t0004g0124	28	450	0.0622	310	c.262 others(327): Show c.262-1553_262-1552insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCAGAAAGTAGTTTT	NEPRO	ENSG00000163608.15	transcript	ENST00000314400.10	protein_coding	2/8			chr3	TogoVar
NEU4_chr2_241804193_241822413	241805379	G G	GCCCAGGA others(303): Show GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCT CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAG GCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCC TCCCTCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0028 a0002c0003t0002g0028	1	257	0.0039	310	c.-38 others(321): Show c.-3899_-3898insCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCTC CTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGG ACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGG CCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACC CAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCC GCAGGCCACCCTCCCTCCCTCCTCAA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3813		chr2	TogoVar
NFILZ_chr19_8625633_8686151	8678193	C C	CCATCCAT others(303): Show CCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTC CGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATTCTTCCATCCA TCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCATCCATCCAT CCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCACCATCCATC CATCATCCATCCATCCATCCACCATCCATCCATCCATCCATCCATCCATT CCATCCATTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATC GATCCATCTAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0102 a0002c0002t0102	a0002c0002t0102g0229 a0002c0002t0102g0229	1	364	0.0027	310	c.56 others(319): Show c.562_*563insCATCCATCCACCTATCCATCCATCCGTCCGTCTGTC CCATCCGTCCGTCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATTC TTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCATCCA TCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCA CCATCCATCCATCATCCATCCATCCATCCACCATCCATCCATCCATCCAT CCATCCATTCCATCCATTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCGATCCATCTATCATC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	563	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFRKB_chr11_129858636_129900578	129889647	T T	TAAAGAAG others(303): Show TAAAGAAGTGCTGATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGA TCCCGCCAGTGCACTCCAGCCTGGGCGACAGAGCGAGACGCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0012 a0005c0014t0012	a0005c0014t0012g0202 a0005c0014t0012g0202	1	265	0.0038	310	c.136 others(325): Show c.136-853_136-852insTTTTTTTTTTTTTTGAGACGGCGTCTCGCT CTGTCGCCCAGGCTGGAGTGCACTGGCGGGATCTCAGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTATCAGCACTTCTTT	NFRKB	ENSG00000170322.15	transcript	ENST00000682444.1	protein_coding	3/26			chr11	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(303): Show CAAAAAGTATAACTGAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0008 a0002c0006t0008	a0002c0006t0008g0165 a0002c0006t0008g0165	1	162	0.0062	310	c.-74 others(327): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGTGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(303): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00733.hp1 others(36): Show HG00280.hp1 HG00280.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG01993.hp1 HG01993.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp2 HG02559.hp1 HG02735.hp2 HG03491.hp2 HG03540.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18942.hp1 NA18945.hp2 NA18953.hp2 NA18969.hp1 NA18975.hp2 NA18995.hp1 NA18998.hp1 NA19007.hp2 NA19082.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0002t0003 a0001c0003t0002 a0001c0003t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0007t0001 a0001c0007t0006 a0001c0012t0001	a0001c0001t0001g0124 a0001c0001t0002g0055 a0001c0001t0002g0065 others(36): Show a0001c0001t0001g0124 a0001c0001t0002g0055 a0001c0001t0002g0065 a0001c0001t0002g0080 a0001c0001t0006g0062 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0122 a0001c0001t0009g0097 a0001c0001t0013g0068 a0001c0001t0013g0073 a0001c0001t0013g0076 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0289 a0001c0003t0002g0054 a0001c0003t0002g0069 a0001c0003t0002g0209 a0001c0003t0005g0060 a0001c0003t0005g0061 a0001c0003t0005g0063 a0001c0003t0005g0071 a0001c0003t0005g0079 a0001c0003t0005g0096 a0001c0003t0005g0200 a0001c0005t0001g0067 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0081 a0001c0005t0001g0327 a0001c0005t0002g0133 a0001c0005t0009g0132 a0001c0005t0009g0146 a0001c0007t0001g0070 a0001c0007t0001g0147 a0001c0007t0006g0349 a0001c0012t0001g0114	39	200	0.1950	310	c.-74 others(327): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232981166	C C	CAAAAAGT others(303): Show CAAAAAGTATAACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02559.hp2 others(1): Show HG02145.hp2 HG02280.hp1 HG02559.hp2 HG02976.hp1	a0002 a0002	a0002c0009 a0002c0010 a0002c0009 a0002c0010	a0002c0009t0002 a0002c0010t0001 a0002c0009t0002 a0002c0010t0001	a0002c0009t0002g0328 a0002c0009t0002g0329 a0002c0009t0002g0330 others(1): Show a0002c0009t0002g0328 a0002c0009t0002g0329 a0002c0009t0002g0330 a0002c0010t0001g0325	4	165	0.0242	310	c.-74 others(327): Show c.-74-6203_-74-6202insTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCTCAGTTATACTTTTT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219080668	T T	TATATATA others(303): Show TATATATATGCTAACATATATAAGCTTATATATATGCTAACATATATAAG CTTATATATATGCTAACATATATAAGCTTATATATATGCTAACATATATA AGCTTATATATATGCTAACATATATAAGCTTATATATATGCTAACATATA TAAGCTTATATATATGCTAACATATATATAAGCTTATATATATGCTAATA TATATAAGCTTATATATATGCTAATATATATAAGCTTATATATATGCTAA TATATATAAGCTTATATATATGCTAATATATATAAGCTTATATATGCTAA TATATATAAGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02896.hp2 others(2): Show HG01891.hp1 HG02055.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 others(2): Show a0001c0001t0008g0141 a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0144 a0001c0001t0008g0145	5	346	0.0145	310	c.589 others(327): Show c.589-2463_589-2462insGCTTATATATATTAGCATATATAAGCTT ATATATATTAGCATATATATAAGCTTATATATATTAGCATATATATAAGC TTATATATATTAGCATATATATAAGCTTATATATATTAGCATATATATAA GCTTATATATATGTTAGCATATATATAAGCTTATATATGTTAGCATATAT ATAAGCTTATATATGTTAGCATATATATAAGCTTATATATGTTAGCATAT ATATAAGCTTATATATGTTAGCATATATATAAGCTTATATATGTTAGCAT ATATATAAGCTTATATATGTTAGCATATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	5/7			chr2	TogoVar
NKAIN3_chr8_62243854_62989904	62431910	T T	TAAACTAT others(303): Show TAAACTATAACTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG02976.hp1 HG02717.hp1 HG02896.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0082 a0001c0002t0094 a0002c0003t0103 a0001c0001t0082 a0001c0002t0094 a0002c0003t0103	a0001c0001t0082g0079 a0001c0002t0094g0078 a0002c0003t0103g0077 a0001c0001t0082g0079 a0001c0002t0094g0078 a0002c0003t0103g0077	3	128	0.0234	310	c.55- others(329): Show c.55-147617_55-147616insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTA CAAAAAATAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAACTATAACTG	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NOC4L_chr12_132139457_132157468	132149623	A A	ACCACACC others(303): Show ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCATACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0222 a0001c0003t0001g0222	1	292	0.0034	310	c.901 others(325): Show c.901+765_901+766insGCTCATACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCCTCGCTCCTACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCCACACC CCTAATCCCCTCGGTGAGTGCCGCCGCCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NPAS3_chr14_32933879_33809173	33586234	A A	ATCAGATG others(303): Show ATCAGATGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG GACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0030 a0001c0001t0045g0030	1	75	0.0133	310	c.558 others(329): Show c.558+26035_558+26036insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGTCAGATGTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NRDE2_chr14_90262860_90336941	90282319	T T	TAAAAAAA others(303): Show TAAAAAAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGATTGC GCCACTGCACTCCAGTCTGGGCGACAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0105 a0001c0003t0105	a0001c0003t0105g0310 a0001c0003t0105g0310	1	340	0.0029	310	c.329 others(329): Show c.3298-3187_3298-3186insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGACTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGTTTTTTTT	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	12/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664490	C C	CCTCCCCT others(303): Show CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0115 a0001c0001t0030g0115	1	307	0.0033	310	c.433 others(327): Show c.433+1030_433+1031insAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGG GGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(303): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTC CCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01517.hp1 HG03490.hp2 others(1): Show HG01168.hp1 HG01517.hp1 HG03490.hp2 HG03492.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0003c0003t0003 a0004c0004t0009 a0001c0001t0001 a0003c0003t0003 a0004c0004t0009	a0001c0001t0001g0008 a0003c0003t0003g0182 a0004c0004t0009g0014 a0001c0001t0001g0008 a0003c0003t0003g0182 a0004c0004t0009g0014	4	316	0.0127	310	c.-30 others(321): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
NUP133_chr1_229435259_229513341	229486325	A A	AAAATAAA others(303): Show AAAATAAATAACAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAATAAAAAAA AAAATAAAAAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0003 a0010c0016t0003	a0010c0016t0003g0114 a0010c0016t0003g0114	1	263	0.0038	310	c.150 others(325): Show c.1500+45_1500+46insATTTTTATTTTTTTTTTTATTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC CGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCTGTTATTTATTT	NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding	11/25			chr1	TogoVar
NUP160_chr11_47773118_47853350	47785088	T T	TGAGTTTC others(303): Show TGAGTTTCAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG GCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03139.hp1 HG02965.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0109 a0002c0002t0001g0042 a0002c0002t0001g0109	2	236	0.0085	310	c.374 others(325): Show c.3747-26_3747-25insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAA AATTAGCCGGGCGTCGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAATCTGAAACTC	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	32/35			chr11	TogoVar
NXN_chr17_794310_984776	841586	C C	CCACAGGC others(303): Show CCACAGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACCCACGGGCAGGTCCCCCCGACCA CGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCC TGACCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCG CATCTCACATG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	76	0.0132	310	c.361 others(329): Show c.361-15509_361-15508insCATGTGAGATGCGCCGTGGTCAGGGT GGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGA TGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCT GCCCGTGGGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGGGGACCTGCCTGTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659296	A A	AAGAAAGA others(303): Show AAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAGAAAGA AAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	240	0.0042	310	c.-17 others(319): Show c.-177_-176insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTCTTTCTTTCT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		142		chr13	TogoVar
ODF3L2_chr19_458361_479983	466894	G G	GGGTGGAG others(303): Show GGGTGGAGGGTGGATGGACGGGTGGATAGATGGTTGGGTGGAGGGTGGAT GGGCGGGTGGATAGATGGATGGGTGGGTGGTTGGGTGGGTGGGTAGATGG ATGAGTGTATGGACGGGTGGATAGATGGTTGGGTGGAGGGTGGAAGGATG GGTGGATAGATGGATGGGTGGGTGGGTGGGTGGATGGATGAGTGGATGGA CGGTGGATAGATAGTTGGGTGGAGGGTGGATGGGCGGGTGGATAGATGGA TGGGTGGGTGGTTGGGTGGGTGGGTGGATGGATGAATGGATGGACGGGTG GAAAGATGGTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0126 a0002c0001t0001g0126	1	322	0.0031	310	c.349 others(325): Show c.349+754_349+755insAACCATCTTTCCACCCGTCCATCCATTCAT CCATCCACCCACCCACCCAACCACCCACCCATCCATCTATCCACCCGCCC ATCCACCCTCCACCCAACTATCTATCCACCGTCCATCCACTCATCCATCC ACCCACCCACCCACCCATCCATCTATCCACCCATCCTTCCACCCTCCACC CAACCATCTATCCACCCGTCCATACACTCATCCATCTACCCACCCACCCA ACCACCCACCCATCCATCTATCCACCCGCCCATCCACCCTCCACCCAACC ATCTATCCACCCGTCCATCCACCCTCCACC	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar

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