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
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(183): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0145	1	60	0.0167	190	c.317 others(207): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(183): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	60	0.0167	190	c.317 others(207): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(183): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GCGGGAACGGCGCTGCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0151 a0001c0001t0006g0151	1	60	0.0167	190	c.317 others(207): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGGCGGGAACGG CGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGC TGCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035461	C C	CGGGGGGG others(183): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG CGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	285	0.0035	190	c.317 others(207): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
LMF1_chr16_848634_975984	953216	C C	CACTCCAA others(183): Show CACTCCAAACCAGCCTCCTACACGTCCACACAGACACCCACTCCAAACCA GCCTCCTGCACGTCCACACAGACACCCACCCCAAACCAGCCTCCTACACG TTCACACAGACACGGACCCCAAACCAGCCTCCTACACGTTCACACAGACA CGGACCCCAAACCAGCCTCCTACACGTTCACACAGACACGG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0060 a0002c0016t0001g0060	1	260	0.0038	190	c.503 others(207): Show c.503+1140_503+1141insCCGTGTCTGTGTGAACGTGTAGGAGGCT GGTTTGGGGTCCGTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTCC GTGTCTGTGTGAACGTGTAGGAGGCTGGTTTGGGGTGGGTGTCTGTGTGG ACGTGCAGGAGGCTGGTTTGGAGTGGGTGTCTGTGTGGACGTGTAGGAGG CTGGTTTGGAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953959	A A	AACCAGCC others(183): Show AACCAGCCTCCTGCACATCCACACAGACACAGACCCGAAACCAGCTTCCT ACACGTCCACACAGACACCCACCCCACACCAGCTTCCTACATGTCCACAC AGACACCCACCCCACACCAGCCTCCTACATGTCCACACAGACACCCACTC CAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0054 a0001c0004t0001g0054	1	222	0.0045	190	c.503 others(205): Show c.503+397_503+398insGTGGGGTGGGTGTCTGTGTGGACGTGTAGG AGGCTGGTTTGGAGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTGTGG GGTGGGTGTCTGTGTGGACATGTAGGAAGCTGGTGTGGGGTGGGTGTCTG TGTGGACGTGTAGGAAGCTGGTTTCGGGTCTGTGTCTGTGTGGATGTGCA GGAGGCTGGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	961828	G G	GACAGACT others(183): Show GACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACG GTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGG GATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02896.hp2 HG02970.hp2 HG02451.hp1 HG02896.hp2 HG02970.hp2	a0002 a0006 a0002 a0006	a0002c0052 a0006c0021 a0002c0052 a0006c0021	a0002c0052t0001 a0006c0021t0001 a0006c0021t0006 a0002c0052t0001 a0006c0021t0001 a0006c0021t0006	a0002c0052t0001g0018 a0006c0021t0001g0019 a0006c0021t0006g0020 a0002c0052t0001g0018 a0006c0021t0001g0019 a0006c0021t0006g0020	3	209	0.0144	190	c.194 others(207): Show c.194-7163_194-7162insGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGT CTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGAT CCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCA CCGTGAGTCTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	962016	G G	GACACAGA others(183): Show GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCAC GGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACC CAGACAGACTCACGGTGACAGCACGGGATCACGACCCAGAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG06807.hp2 HG03453.hp2 HG06807.hp2	a0010 a0010	a0010c0038 a0010c0039 a0010c0038 a0010c0039	a0010c0038t0001 a0010c0039t0002 a0010c0038t0001 a0010c0039t0002	a0010c0038t0001g0244 a0010c0039t0002g0264 a0010c0038t0001g0244 a0010c0039t0002g0264	2	255	0.0078	190	c.194 others(207): Show c.194-7351_194-7350insGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCC CGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMF1_chr16_848634_975984	962016	G G	GACACAGA others(183): Show GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCA CGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCAC GGGATCACGACCCAGACAGACTCACGGTGACAGCACGGGATCACGACCCA GACACAGACTCACGGTGACAGCACGGGATCACGACCCAGAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0024 a0009c0024	a0009c0024t0001 a0009c0024t0001	a0009c0024t0001g0117 a0009c0024t0001g0117	1	254	0.0039	190	c.194 others(207): Show c.194-7351_194-7350insGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTCT GGGTCGTGATCCCGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCC CGTGCTGTCACCGTGAGTCTGTGTCTGGGTCGTGATCCCGTGCTGTCACC GTGAGTCTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMNTD1_chr12_25471082_25558283	25499254	T T	TTTTTTTT others(183): Show TTTTTTTTTTTTTTTTTTTTTTTATTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19012.hp2 NA19054.hp1 others(1): Show HG02015.hp2 NA19012.hp2 NA19054.hp1 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0161 a0001c0004t0001g0164 a0001c0004t0001g0165 others(1): Show a0001c0004t0001g0161 a0001c0004t0001g0164 a0001c0004t0001g0165 a0001c0004t0001g0167	4	385	0.0104	190	c.22 others(207): Show c.22+4483_*22+4484insTAAAAATACAAAAAAATTAGCCGGGCGT AGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAA TGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACT GCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAATAAAAAAAAAA AAAAAAAAAAAA	LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	9/9			chr12	TogoVar
LOC128462377_chr16_89312046_89423292	89400449	A A	ACGGTCAT others(183): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	230	0.0043	190	c.9+1 others(205): Show c.9+17834_9+17835insGCCCCCAGCGCAGGGAAGCCTGGGGCAGCA GATGACCATCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGGCCC CCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGTCCCCCAGCGCAGGGA AGCCTGGGGCAGCAGATGACCGTCCCCCAGCGCAGGGAAGCCTGGGGCAG CAGATGACCG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC128462377_chr16_89312046_89423292	89400677	C C	CCGGTCAT others(183): Show CCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02132.hp2 NA18940.hp1 others(13): Show HG00673.hp1 HG02132.hp2 NA18940.hp1 NA18945.hp2 NA18950.hp1 NA18964.hp1 NA18980.hp2 NA18984.hp2 NA18985.hp1 NA18991.hp2 NA19010.hp2 NA19062.hp1 NA19063.hp2 NA19084.hp2 NA19085.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 others(13): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0294 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0359	16	232	0.0690	190	c.9+1 others(205): Show c.9+17606_9+17607insTCCCCCAGCGCAGGGAAGCCTGGGGCAGCA GATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGGCCC CCAGCGCAGGGAAGCCTGGGGCAGCAGATGACCGGCCCCCAGCGCAGGGA AGCCTGGGGCAGCAGATGACCGGCCCCCAGCGCAGGGAAGCCTGGGGCAG CAGATGACCG	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LRCOL1_chr12_132598151_132615582	132598569	G G	GCCCCCGC others(183): Show GCCCCCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTC TCCGCGCGCCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCCC GCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCTCCTCCTCTCCG CGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	219	0.0046	190	c.48 others(201): Show c.4832_*4833insGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG GGGCGCGCGGAGAGGAGGAGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAG AGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGGGGC GCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG CGGGGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4581		chr12	TogoVar
LRCOL1_chr12_132598151_132615582	132598569	G G	GCCCCGCC others(183): Show GCCCCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCT CCGCGCGCCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCG CCTCCTCTCCGCGCGCCCCCCGCCTCTCCGCGCGCCCCTCCTCCTCTCCG CGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0023 a0003c0003t0004g0023	1	219	0.0046	190	c.48 others(201): Show c.4832_*4833insGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG GGGCGCGCGGAGAGGAGGAGGGGCGCGCGGAGAGGCGGGGGGCGCGCGGA GAGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGGGG CGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAG GCGGGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4581		chr12	TogoVar
LUC7L_chr16_183990_234449	186411	A A	AACAGCGA others(183): Show AACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGGACAGCGACAC GGGGGGGACAGCGACACGGGGGGGACAGCGACACGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	344	0.0029	190	c.27 others(201): Show c.2786_*2787insCCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGT CCCCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTG TTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2578		chr16	TogoVar
MACROD2_chr20_13990516_16058197	14862348	A A	AAAATATA others(183): Show AAAATATATATATAAATATATATATAAATATATATAAATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATAAA TATATATAAATAAATATATAAATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03041.hp1 HG00738.hp2 HG03041.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0003 a0001c0001t0009 a0002c0002t0003	a0001c0001t0009g0005 a0002c0002t0003g0024 a0001c0001t0009g0005 a0002c0002t0003g0024	2	23	0.0870	190	c.418 others(211): Show c.418+177412_418+177413insTAAATATATATAAATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATAAATAAATATATAAATATATATATAAATATATATAAATATA TATATAAATATATATA	MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
MAEA_chr4_1284891_1345137	1330325	T T	TCTCTCTC others(183): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC GTCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCT CTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCG TCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCTCTCCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0258 a0001c0005t0001g0258	1	384	0.0026	190	c.657 others(207): Show c.657-2432_657-2431insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTC TCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGT CCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTCTCTCGTCCCTCT CTCGTCTCTCCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8			chr4	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(183): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATATTAATATATATTAATTATATATATTAATTATATATATTA ATATATATTAATATATATATTAATTATATATATTTATATAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03041.hp2 HG00741.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0183 a0001c0004t0002g0195 a0001c0004t0002g0183 a0001c0004t0002g0195	2	76	0.0263	190	c.316 others(209): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATATTAATATATATTAATTA TATATATTAATTATATATATTAATATATATTAATATATATATTAATTATA TATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(183): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGGGGGGAGGGGGGA GGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	87	0.0115	190	c.525 others(207): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCTCCCCCCT CCCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTC CCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061735	T T	TATATAAT others(183): Show TATATAATATATAATTTATATATAATATAATTATATAATATATAATTTAT ATATAATATAATTATATAATATATAATTTATATATAATATAATTATATAA TATATAATTTATATATAATATAATTATATAATATATAATTTATATATAAT ATAATTATATAATATATATTTATATATAATATAATTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	108	0.0093	190	c.-31 others(201): Show c.-3131_-3130insTATATAATTATATTATATATAAATATATATTATA TAATTATATTATATATAAATTATATATTATATAATTATATTATATATAAA TTATATATTATATAATTATATTATATATAAATTATATATTATATAATTAT ATTATATATAAATTATATATTATATAATTATATTATATATAAATTATATA TTATAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3060		chr19	TogoVar
MCTP1_chr5_94698690_95290094	94954103	C C	CAAATATA others(183): Show CAAATATATATATGCATATATATACAAATATATATATGCATATATATACA AATATATATATGCATATATATACAAATATATATGTGCATATATATACAAA TATATATGCATATATATACAAATATATATGTGCATATATATACATATATA TGAATATATATACAAATATATATATGCATATATATACAAAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0085 a0001c0002t0006g0085	1	69	0.0145	190	c.839 others(205): Show c.839-743_839-742insATTTGTATATATATGCATATATATATTTGT ATATATATTCATATATATGTATATATATGCACATATATATTTGTATATAT ATGCATATATATTTGTATATATATGCACATATATATTTGTATATATATGC ATATATATATTTGTATATATATGCATATATATATTTGTATATATATGCAT ATATATATTT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	2/22			chr5	TogoVar
MDM2_chr12_68803177_68850544	68833280	A A	AATATATA others(183): Show AATATATATATTTATATAAATATAAAAATATATTTATATAAATATATATA TTTATATAAATATAAAAATATATTTATATAAATATATATATTTATATAAA TATAAAAATATATTTATATAAATATATATATTTATATAAATATAAAAATA TATTTATATAAATATATATATTTATATAAATATATATATTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0277 a0001c0001t0077g0277	1	238	0.0042	190	c.685 others(207): Show c.685-2544_685-2543insTATATTTATATAAATATAAAAATATATT TATATAAATATATATATTTATATAAATATAAAAATATATTTATATAAATA TATATATTTATATAAATATAAAAATATATTTATATAAATATATATATTTA TATAAATATAAAAATATATTTATATAAATATATATATTTATATAAATATA TATATTTATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
MELTF_chr3_196996740_197034817	197000846	C C	CTGAGTGT others(183): Show CTGAGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTG AGTGTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGT GTTTTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTT TTGTGTCTTAGACTCTATGCCGTGTGCCAAGCACTGTGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0029 a0001c0003t0013g0029	1	418	0.0024	190	c.25 others(201): Show c.2525_*2526insCAGCACAGTGCTTGGCACACGGCATAGAGTCTAA GACACAAAACACTCAGCACAGTGCTTGGCACACGGCATAGAGTCTAAGAC ACAAAACACTCAGCACAGTGCTTGGCACACGGCATAGAGTCTAAGACACA AAACACTCAGCACAGTGCTTGGCACACGGCATAGAGTCTAAGACACAAAA CACTCA	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		893		chr3	TogoVar
MID2_chrX_107820866_107936637	107910768	T T	TTTTCCTT others(183): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01258.hp1 HG01071.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0062 a0001c0001t0001g0072	2	103	0.0194	190	c.107 others(209): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCC	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MID2_chrX_107820866_107936637	107910838	C C	CTTTCCTT others(183): Show CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	85	0.0118	190	c.107 others(209): Show c.1074-5164_1074-5163insTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9			chrX	TogoVar
MLPH_chr2_237482251_237560322	237543978	G G	GGACAGTG others(183): Show GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTTGGGACAGTGGTGAGTGG GGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAA GTGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGACAGTGGTGAG TGGGGGGACAGTGGTGAGTGGGGGGACAGTGGCAAGTGGGC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	281	0.0036	190	c.153 others(209): Show c.1539+1319_1539+1320insGACAGTGGTGAGTGGGGGGACAGTGG TGAGTTGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGT GGTGAGTGGGGGGACAGTGGCAAGTGGGCACAGTGGTGAGTGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGAC AGTGGCAAGTGGGC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237544613	G G	GAGTGGGG others(183): Show GAGTGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAG TGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGGGACAGTGGTGAGTGGGCACGGTGGTGAGTGGGGCGACAG TGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	214	0.0047	190	c.153 others(209): Show c.1539+1954_1539+1955insAGTGGGGGACAGTGGTGAGTGGGGGG ACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGG GACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGG CACGGTGGTGAGTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTG GGGGACAGTGGTGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(183): Show TGTATATATATATGTATATATATATGTATATATATGTATATATATATGTA TATATATGTATATATATGTATATATATATATGTATATATATATGTATATA TATGTATATATATGTATATATATATATACGTATATATATGTATATATATG TATGTATATATATGTATATATATATACGTATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp1 HG03225.hp2 HG03453.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0246 a0009c0011t0003g0247 a0009c0011t0003g0246 a0009c0011t0003g0247	2	60	0.0333	190	c.484 others(205): Show c.484-693_484-692insGTATATATATATACGTATATATATATACAT ATATATACATACATATATATACATATATATACGTATATATATATATACAT ATATATACATATATATACATATATATATACATATATATATATACATATAT ATACATATATATACATATATATATACATATATATACATATATATATACAT ATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(183): Show TAATATATATTATATATATAATATATAATATATAATATATATTATATATA TAATATATAATATATATAATATATATATAATATATAATATATAATATATA TTATTATATATAATATATATTATATATATAATATATATTATATATAATAT ATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	50	0.0200	190	c.547 others(207): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATAATAATATATATTATATATTATATATTATATATATATTATAT ATATTATATATTATATATATAATATATATTATATATTATATATTATATAT ATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYCBP2_chr13_77039657_77332094	77174910	T T	TAATATAT others(183): Show TAATATATATTATATATATAATATATAATATATATTATATATATAATATA TAATATATATAATATATATTATATATATAATATATAATATATAATATATA TTATTATATATAATATATATTATATATATAATATATATTATATATAATAT ATATTATATATATAATATATATTATATATATTTTAAATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0327 a0001c0045t0001g0327	1	50	0.0200	190	c.547 others(207): Show c.5473-422_5473-421insTATATTTAAAATATATATAATATATATT ATATATATAATATATATTATATATAATATATATTATATATATAATATATA TTATATATAATAATATATATTATATATTATATATTATATATATAATATAT ATTATATATATTATATATTATATATATAATATATATTATATATTATATAT ATAATATATATT	MYCBP2	ENSG00000005810.20	transcript	ENST00000544440.7	protein_coding	36/82			chr13	TogoVar
MYNN_chr3_169768396_169794716	169770930	A A	AATATATA others(183): Show AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 NA19240.hp1 HG02572.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	73	0.0274	190	c.-25 others(201): Show c.-2564_-2563insATATATAAAAATTTATATTTATATATCATAAATA TATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTAT ATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCAT AAATAT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2465		chr3	TogoVar
MYO1C_chr17_1459186_1497686	1482781	G G	GCCCCTCC others(183): Show GCCCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCC CCTCCTGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCCTCCCGCACTG GGCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCT GCCCCTCCCCTCCCGCACTGGCACTGGGCTTCTCTCCCTGC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0015 a0015	a0015c0048 a0015c0048	a0015c0048t0004 a0015c0048t0004	a0015c0048t0004g0278 a0015c0048t0004g0278	1	310	0.0032	190	c.546 others(203): Show c.546+79_546+80insGCAGGGAGAGAAGCCCAGTGCCAGTGCGGGAG GGGAGGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGGG AGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAG TGCAGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAG GGGAGGGG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	4/31			chr17	TogoVar
MYO1C_chr17_1459186_1497686	1482801	G G	GCTTCTCT others(183): Show GCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTG CCCCTCCCCTCCCCTCCCACACTAGCCTTCTCTCCCTGCCCTCCCCTCCC CTCCTGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCGCACTGGCACTG GGCTTCTCTCCCTGCCCCTCCCCTCCCACACTGGCACTGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02896.hp2 HG02615.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0042 a0001c0003 a0001c0042	a0001c0003t0003 a0001c0042t0003 a0001c0003t0003 a0001c0042t0003	a0001c0003t0003g0282 a0001c0042t0003g0281 a0001c0003t0003g0282 a0001c0042t0003g0281	2	135	0.0148	190	c.546 others(203): Show c.546+59_546+60insGTCAGTGCCAGTGTGGGAGGGGAGGGGCAGGG AGAGAAGCCCAGTGCCAGTGCGGGAGGGGAGGGGCAGGGAGAGAAGCCCA GTGCAGGAGGGGAGGGGAGGGCAGGGAGAGAAGGCTAGTGTGGGAGGGGA GGGGAGGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGG GAGAGAAG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	4/31			chr17	TogoVar
NAALAD2_chr11_90129663_90197894	90154996	T T	TATATATT others(183): Show TATATATTATATACGTATACATAATATGTATATATTATATACGTATACAT AATATGTATATATTATATACGTATACATAATATGTATATATTATATACGT ATACATAATATGTATATATTATATACGTATACATAATATGTATATATTAT ATACGTATACATAATATGTATATATTATATACGTATACATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG02258.hp2 HG01175.hp2 HG01256.hp2 HG02258.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0003c0004t0001 a0003c0004t0005 a0001c0002t0001 a0003c0004t0001 a0003c0004t0005	a0001c0002t0001g0208 a0003c0004t0001g0242 a0003c0004t0005g0241 a0001c0002t0001g0208 a0003c0004t0001g0242 a0003c0004t0005g0241	3	286	0.0105	190	c.796 others(207): Show c.796+2514_796+2515insATATTATATACGTATACATAATATGTAT ATATTATATACGTATACATAATATGTATATATTATATACGTATACATAAT ATGTATATATTATATACGTATACATAATATGTATATATTATATACGTATA CATAATATGTATATATTATATACGTATACATAATATGTATATATTATATA CGTATACATAAT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(183): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCC CAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCC CTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02717.hp1 HG02895.hp2 others(3): Show HG02055.hp2 HG02717.hp1 HG02895.hp2 HG02976.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0034 a0001c0001t0003g0068 a0001c0001t0003g0013 a0001c0001t0003g0034 a0001c0001t0003g0068	6	189	0.0317	190	c.28 others(201): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCG GCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAG TCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFA3_chr19_54097855_54112568	54109797	C C	CTCCACCC others(183): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	184	0.0054	190	c.28 others(201): Show c.2895_*2896insTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGC CCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCG GCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAG TCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACA GCCCCT	NDUFA3	ENSG00000170906.16	transcript	ENST00000485876.6	protein_coding		2230		chr19	TogoVar
NDUFB2_chr7_140691708_140711643	140706031	T T	TTGTTATG others(183): Show TTGTTATGTTATGTTATGTTGTTATGTTATGTTATGTTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	259	0.0039	190	c.30 others(205): Show c.30-513_*30-512insGTTATGTTATGTTATGTTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATGTT	NDUFB2	ENSG00000090266.13	transcript	ENST00000247866.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NEU4_chr2_241804193_241822413	241805236	C C	CGCAGGCC others(183): Show CGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCC TCAACCCAGAGACCTCTGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGAGACCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	226	0.0044	190	c.-40 others(201): Show c.-4042_-4041insGCAGGCCACCCTCCCTCCCCCTCAACCCAGGAAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCTTCCCTCCCCCCTCAACCCAGAGACCTCTGCAGGCCACCCTCCCCCC TCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAACCCAGAG ACCTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3956		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807650	T T	TCCCTCCC others(183): Show TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGG ACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGAACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	299	0.0033	190	c.-16 others(201): Show c.-1628_-1627insCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1542		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807931	T T	TCCCTCCC others(183): Show TCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGA CCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGC CTCCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0164 a0002c0003t0002g0164	1	282	0.0035	190	c.-13 others(201): Show c.-1347_-1346insCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGATGTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGAACCTCCGCAGGCCTCCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGC AGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1261		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807933	C C	CCTCCCCC others(183): Show CCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTC AACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCC ACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0106 a0002c0003t0003g0106	1	314	0.0032	190	c.-13 others(201): Show c.-1345_-1344insCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCAC CCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACGTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAG GCCACT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1259		chr2	TogoVar
NFE2L3_chr7_26147198_26192137	26176735	G G	GGGCAGCC others(183): Show GGGCAGCCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGTGGCCAGGCA GAGGCGCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCA CATCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGAT GGGCGGCCAGGCAGAGATGCTCCTCACTTCCTAGACGGGGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02922.hp2 HG03139.hp2 HG02451.hp1 HG02922.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0019 a0001c0002t0011g0019	3	393	0.0076	190	c.571 others(207): Show c.571-1182_571-1181insATCCCAGACGGGGTGGCCAGGCAGAGGC GCTCCTCACTTCCCAGACGGGGTGGCCAGGCAGAGGCGCTCCTCACATCC CAGACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGACGATGGGCG GCCAGGCAGAGATGCTCCTCACTTCCTAGACGGGGTGGCAGCCGGGCAGA GGCGCTCCTCAC	NFE2L3	ENSG00000050344.9	transcript	ENST00000056233.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
NFILZ_chr19_8625633_8686151	8661104	T T	TTCCTTCC others(183): Show TTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCC CTCCTCCCTTCCTCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCCCTCCC TCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTCCT TCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0333 a0001c0001t0022g0333	1	200	0.0050	190	c.-16 others(211): Show c.-163-13432_-163-13431insCTCCCTTCCTTCCCCCTCCCTCCC TTCCTTCCCCCTCCTCCCTTCCTCTTCCTTCCTTCCTTCCCTCCCTTCCT TCCCCCTCCCTCCCTTCCTTCCCCCTCCCTCCCTTCCTTCCCCCTCCCTC CCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTCCTCCTTCCTTCCTTC CTCCTTCCTTCCTTCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819656	T T	TGCGTATA others(183): Show TGCGTATATATGTATGTATACGTATATATACACACACGTATATATATGTA TGTATACGTATATATATATACACACACGTATATATATGTATGTATACGTA TATATATATACACACACGTATATATATGTATGTATACGTATATATATATA CACACACGTATATATATGTATGTATACGTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0224 a0001c0002t0001g0224	1	132	0.0076	190	c.289 others(207): Show c.289+4229_289+4230insGTATATATATATACGTATACATACATAT ATATACGTGTGTGTATATATATATACGTATACATACATATATATACGTGT GTGTATATATATATACGTATACATACATATATATACGTGTGTGTATATAT ATATACGTATACATACATATATATACGTGTGTGTATATATACGTATACAT ACATATATACGC	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NTS_chr12_85869295_85887992	85879256	A A	ATATTTTA others(183): Show ATATTTTATGTACGTAAAATATATTTTATGTATATTTTATGTACGTAAAA TATATTTTTATATATATTTTATGTACGTAAAATATATTTATATATATATT TTATGTATGTAAAATATATTTATATATATATTTTATGTATATTTTATGTA TATTTTATGTATATAAAACATATTTTATGTATATAAAATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	11	0.0909	190	c.360 others(205): Show c.360+687_360+688insTATTTTATGTACGTAAAATATATTTTATGT ATATTTTATGTACGTAAAATATATTTTTATATATATTTTATGTACGTAAA ATATATTTATATATATATTTTATGTATGTAAAATATATTTATATATATAT TTTATGTATATTTTATGTATATTTTATGTATATAAAACATATTTTATGTA TATAAAATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3			chr12	TogoVar
NUP93_chr16_56725129_56855286	56808448	A A	ATATAAAA others(183): Show ATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATAT AAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAA AATATATAGTTATGTAACTATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA20805.hp1 NA19002.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0325 a0001c0001t0001g0307 a0001c0001t0001g0325	2	273	0.0073	190	c.489 others(207): Show c.489+2834_489+2835insATAACTATATAAAATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTA TATAAAATATATAGTTATATAACTATATAAAATATAGTTATATAACTATA TAAAATATATAGTTATGTAACTATAAAATATATAGTTATGTAACTATAAA ATATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NXN_chr17_794310_984776	949565	T T	TGCCTCCT others(183): Show TGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCGCTGCCTCCTCCTCTCCCCGCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCC CCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	211	0.0047	190	c.360 others(209): Show c.360+29753_360+29754insCGGGGGGAGAGGAGGAGGCCGCGGGG AGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGC AGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGCGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGG GGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659308	A A	AGAAAAGA others(183): Show AGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	156	0.0064	190	c.-18 others(199): Show c.-189_-188insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		154		chr13	TogoVar
ODAD3_chr19_11415605_11440121	11424807	A A	ATGTGTAT others(183): Show ATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATATGTAT ATATGTGTATATATACCTATGTGTATATATGTATATATGTGTATATATAC CTATGTGTATATATGTATATATGTGTATATATACCTATGTGTATATATGT ATATATGTGTATATATACCTATGTGTATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	396	0.0025	190	c.964 others(205): Show c.964-779_964-778insCATATATACATATATACACATAGGTATATA TACACATATATACATATATACACATAGGTATATATACACATATATACATA TATACACATAGGTATATATACACATATATACATATATACACATAGGTATA TATACACATATATACATATATACACATATATACATATATACACATAGGTA TATATACACA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF3_chr11_191761_205258	196510	C C	CTGGTGAG others(183): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGGACATGGGGGGGAC CTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGGGACCTTGGTGAGGGG ACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01257.hp1 others(6): Show HG00280.hp2 HG01081.hp2 HG01257.hp1 HG01433.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0023 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0023	9	294	0.0306	190	c.-54 others(199): Show c.-545_-544insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGGCCTGGTGAGGGG ACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGTGACATGGGGGGGA CCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGG ACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		250		chr11	TogoVar

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