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
ADAMTS17_chr15_99966437_100346975	100058248	T T	TATCCCGG others(459): Show TATCCCGGCTCTAACACCCCTATCCCGGCTCTAACACCCCCTATCCCGGC TCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTTAACAC CCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTAACCGTCCTATCCCG GCTCTAACACCCCTATCCCGGCTCTAACCCTCCTATCCCGGCTCTTAACA CCCCTATCCCGGCTCTAACCCTCCTATCCCAGCTCTAACACCCCATATCC CGGCTCTAACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTTA ACACCCCTATCCCGGCTCTAACACCCCTATCCTGGCTCTAACCCTCCTAT CCCGGCTCTAACCGTCCTATCCCGGCTCTAACACCCCTATCCCGGCTCTA ACCCTCCTATCCCGGCTCTTAACACCCCTATCCCGGCTCTAACCCTCCTA TCCCGGCTCTTAACACC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0201 a0006c0016t0012g0201	1	228	0.0044	466	c.213 others(485): Show c.2138-4195_2138-4194insGGTGTTAAGAGCCGGGATAGGAGGGT TAGAGCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGG GATAGGGGTGTTAGAGCCGGGATAGGACGGTTAGAGCCGGGATAGGAGGG TTAGAGCCAGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGAGCCG GGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATATGGG GTGTTAGAGCTGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAAGAG CCGGGATAGGAGGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGG ACGGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGATAGGGGTGTTAAGA GCCGGGATAGGGGTGTTAAGAGCCGGGATAGGAGGGTTAGAGCCGGGATA GGGGGTGTTAGAGCCGGGATAGGGGTGTTAGAGCCGGGAT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	15/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(459): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACACGTATACGTATACACACATATACACG TATACGTATACACACATATACACGTATACGTATACGTGTACACACATATA CACGTATATACGTATACGTGTACACACATATACACGTATATACGTATACG TGTACACACATATACACGTATATACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACACGT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0122 a0001c0001t0122	a0001c0001t0122g0092 a0001c0001t0122g0092	1	169	0.0059	466	c.48- others(483): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACACGTATACGTATACACACAT ATACACGTATACGTATACACACATATACACGTATACGTATACGTGTACAC ACATATACACGTATATACGTATACGTGTACACACATATACACGTATATAC GTATACGTGTACACACATATACACGTATATACGTATACGTGTACACACAT ATATATACACGTATATATACGTATACGTGTACACACACACACGTATATAT ACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACACAC ACGTATATATACGTATACGTGTACACACACACGTATATATACGTATACGT GTACACACACACGTATATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148581330	A A	ACGTATAC others(459): Show ACGTATACGTATACACACATATACGTATACGTATACACACATATACGTAT ACGTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGT ACACACATATACGTATACGTGTACACACATATACGTATACGTGTACACAC ATATACGTATACGTGTACACACATATACGTATACGTGTACACACATATAC GTATACGTGTACACACATATACGTATACGTGTACACACATATACGTATAC GTGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTAC ACACATATATATACACGTATATATACGTATACGTGTACACACACACACGT ATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTAC ACACACACGTATATATACGTATACGTGTACACACACACGTATATATACGT ATACGTGTACACACACG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0116 a0001c0001t0010g0116	1	169	0.0059	466	c.48- others(483): Show c.48-70669_48-70668insCGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTGTACACACATATACGTATACGTGTA CACACATATACGTATACGTGTACACACATATACGTATACGTGTACACACA TATACGTATACGTGTACACACATATACGTATACGTGTACACACATATACG TATACGTGTACACACATATACGTATACGTGTACACACATATACGTATACG TGTACACACATATACGTATACGTGTACACACATATACGTATACGTGTACA CACATATACGTATACGTGTACACACATATATATACACGTATATATACGTA TACGTGTACACACACACACGTATATATACGTATACGTGTACACACACACG TATATATACGTATACGTGTACACACACACGTATATATACGTATACGTGTA CACACACACGTATATATACGTATACGTGTACACACACG	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
AGMO_chr7_15195317_15567015	15530017	G G	GATATTCT others(459): Show GATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCTATATACGTATT TCCATATAGATATTCTATATACGTATTTCCATATATTCTATATACGTATT TCCATATATTCTATATACGTATTTCCATATATTCTATATACGTATTTCCA TATAGATATTCTATATACGTATTTCCATATAGATATTCCATATACGTATT TCCATATAGATATTCCATATACGTATTTCCATATAGATATTCCATATACG TATTTCCATATAGATATTCCATATACGTATTTCCATATAGATATTCTATA TACGTATTTCCATATAGATATTCTATATACGTATTTCCATATAGATATTC TATATACGTATTTCCATATAGATATTCTATATACGTATTTCCATATATTC TATATACGTATTTCCAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0001 a0002c0019t0001	a0002c0019t0001g0066 a0002c0019t0001g0066	1	236	0.0042	466	c.409 others(485): Show c.409+14754_409+14755insATGGAAATACGTATATAGAATATATG GAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATATCTA TATGGAAATACGTATATAGAATATCTATATGGAAATACGTATATAGAATA TCTATATGGAAATACGTATATGGAATATCTATATGGAAATACGTATATGG AATATCTATATGGAAATACGTATATGGAATATCTATATGGAAATACGTAT ATGGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATAC GTATATAGAATATATGGAAATACGTATATAGAATATATGGAAATACGTAT ATAGAATATATGGAAATACGTATATAGAATATCTATATGGAAATACGTAT ATAGAATATCTATATGGAAATACGTATATAGAATATCTATATGGAAATAC GTATATAGAATATCTATATGGAAATACGTATATAGAATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(459): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGGGAGGAG GGGGGGGGGGAGGAGGGGGGGGGAGGGGGGGAGGAGGAGGGGGGGAGGAG GGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGGGGAGGAG GAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGA GGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGG GGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGG GAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0192 a0001c0001t0008g0192	1	301	0.0033	466	c.125 others(487): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCT CCTCCTCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCC CCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCC CCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCCCCCCCCTCCTCCCCCCCCCCCTCCTCC CCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCTCCT CCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCTTCTCCT CCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCCTCCTCT CCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ALDH16A1_chr19_49448225_49476050	49461105	G G	GCTGGAGT others(459): Show GCTGGAGTCTGGACTCCTGGGTCTGAGGTAGGAGGGGCTGGAGTCTGGAC TCCTGGGTCTGAGGGAGGAGGTGCTGGGGTCTGGACTCCTGGGTCTGAGG GAGGAGGTGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGGA GTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTGTGAGGGAGGAG GGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGGA CTCCTGGGTCTGAGGGAGGAGGGGCTGGGTCTGGACTCCTGGGTCTGAGG GAGGAGGTGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGA GTCTGGACTCCTGAGTCTGAGGGAGGAGGAGCTGGAGTCTGGACTCCTGG GTCTGAGGGAGGAGGGC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	342	0.0029	466	c.577 others(481): Show c.577+224_577+225insGGTCTGAGGTAGGAGGGGCTGGAGTCTGGA CTCCTGGGTCTGAGGGAGGAGGTGCTGGGGTCTGGACTCCTGGGTCTGAG GGAGGAGGTGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGG AGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGAGTCTGGACTCCTGGGTGTGAGGGAGGA GGGGCTGGAGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGCTGGGTCTGGACTCCTGGGTCTGAG GGAGGAGGTGCTGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGG AGTCTGGACTCCTGAGTCTGAGGGAGGAGGAGCTGGAGTCTGGACTCCTG GGTCTGAGGGAGGAGGGCCTGGAGTCTGGACTCCTG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(459): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTGTATATTATAT ATTATATATATATATACATATAATATATATTCTCATATATATTATATATA CTCATATATATAATATATATTCTCATATATATATTATATATTCTCATATA TATAATATATATATTCTCATATATAATATATATTCTCATATATATAATAT ATACTCATATATTATATATATTCTCATATATTATATATATACTCATATAT AATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAATATA TATTCTCATATATAATATATATTCTCATATATGACATATTATATATATTC TCATATATATTATATATTCTCATATATAATATATATTCTCATATAATATA TTATATATTCTCATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0000 a0001c0001t0036g0000	1	416	0.0024	466	c.10 others(479): Show c.10504_*10505insTATATGAGAATATATAATATATTATATGAGAA TATATATTATATATGAGAATATATAATATATATGAGAATATATATAATAT GTCATATATGAGAATATATATTATATATGAGAATATATATTATATAAATG AGAAAATATATATTATATATTAGAATATATACATTATATATGAGTATATA TATAATATATGAGAATATATATAATATATGAGTATATATTATATATATGA GAATATATATTATATATGAGAATATATATATTATATATATGAGAATATAT AATATATATATGAGAATATATATTATATATATGAGTATATATAATATATA TGAGAATATATATTATATGTATATATATATATAATATATAATATACAATA TATAATATATAATATATACATATATACATATAATATATAAACATATAATA TATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(459): Show TATATATTTATATATAGAATATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATTTATATATATAGAATATATATAT AGAATATATATTTATATATATAGAATATATATATAGAATATATATTTATA TATATAGAATATATATATAGAATATATATTTATATATATAGAATATATAT ATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTTA TATATATAGAATATATATATAGAATATATATTTATATATATAGAATATAT ATATAGAATATATATTTATATATATAGAATATATATATAGAATATATATA TAGAATATATATATTCA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	288	0.0035	466	c.70- others(483): Show c.70-35962_70-35961insTGAATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT ATTCTATATATATATTCTATATATATAAATATATATTCTATATATATATT CTATATATATAAATATATATTCTATATATATATTCTATATATATAAATAT ATATTCTATATATATATTCTATATATATAAATATATATTCTATATATATA TTCTATATATATAAATATATATTCTATATATATATTCTATATATATAAAT ATATATTCTATATATATATATTCTATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38570972	T T	TATATATT others(459): Show TATATATTTATATATATAGAATATATATATAGAATATATATTTATATATA TAGAATATATATATAGAATATATATTTATATATATAGAATATATATATAG AATATATATTTATATATATAGAATATATATATAGAATATATATTTATATA TATAGAATATATATATAGAATATATATTTATATATATAGAATATATATAT AGAATATATATTTATATATATAGAATATATATATAGAATATATATTTATA TATATAGAATATATATATAGAATATATATTTATATATATAGAATATATAT ATAGAATATATATTTATATATATAGAATATATATATAGAATATATATTTA TATATATAGAATATATATATAGAATATATATTTATATATATAGAATATAT ATATAGAATATATATTTATATATATAGAATATATATATAGAATATATATA TAGAATATATATATAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	288	0.0035	466	c.70- others(483): Show c.70-35962_70-35961insTCTATATATATATTCTATATATATATTC TATATATATATTCTATATATATAAATATATATTCTATATATATATTCTAT ATATATAAATATATATTCTATATATATATTCTATATATATAAATATATAT TCTATATATATATTCTATATATATAAATATATATTCTATATATATATTCT ATATATATAAATATATATTCTATATATATATTCTATATATATAAATATAT ATTCTATATATATATTCTATATATATAAATATATATTCTATATATATATT CTATATATATAAATATATATTCTATATATATATTCTATATATATAAATAT ATATTCTATATATATATTCTATATATATAAATATATATTCTATATATATA TTCTATATATATAAATATATATTCTATATATATATTCTATATATATAAAT ATATATTCTATATATATATTCTATATATATAAATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGTGAA others(459): Show AAGGTGAAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAG GGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGA GGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGG GAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGGAG GGGAGTCGACGAGTGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGTGGG AGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGA GGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAAGGTGAGAGAAGGGGG AGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGGA GGGGAGGGGGAGGGGGGGAGGCGAGGGGAGGGGGAGGGGAAGGCGAGGGG AGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	350	0.0029	466	c.248 others(481): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCCTCGCCTTCC CCTCCCCCTCCCCTCGCCTCCCCCCCTCCCCCTCCCCTCCCCTCGCCTTC CCCTCCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCA CCTTCCCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTC CCACCCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCCTCCCCC TCCCCTCCCACCCATCCACTCCCCTCTCCTCCCCCTCCCCTCACCTTCCC CTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCCGTCCA CTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACCCTTCC ACTCCCCTCACCTCCTCCTCCCCCTCCCCTTCACCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANKLE2_chr12_132720503_132766832	132729611	T T	TGAGGGGA others(459): Show TGAGGGGAGGGGGAGGAGGAGGTGAGGGGAGTGGAAGGGTGGGAGGGGAG GGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGGACGGGTGGGAGGGGG AGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGGAAGGTGAGGGGAGGA GGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGGGGAGGGGAGGGGAGT CGACGAGTGGGAGGGGAGGGGAAGGTGAGGGGAGGGGGAGGGGAGGGGAG GGGGGGTGGGAGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGAT GGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAGGGGGAGGGGAGGGGAA GGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGGCGAGGGGAGGGGGAG GGGAAGGCGAGGGGAGGGGGAGGGGGAGGCGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp2 HG01167.hp1 others(12): Show HG00642.hp1 HG01106.hp2 HG01167.hp1 HG01884.hp2 HG01981.hp2 HG02040.hp1 HG02738.hp2 HG03017.hp1 HG03654.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 NA18998.hp1 NA19012.hp1 NA20129.hp2	a0002 a0009 a0016 a0002 a0009 a0016	a0002c0002 a0009c0012 a0016c0039 a0002c0002 a0009c0012 a0016c0039	a0002c0002t0001 a0009c0012t0001 a0016c0039t0001 a0002c0002t0001 a0009c0012t0001 a0016c0039t0001	a0002c0002t0001g0032 a0002c0002t0001g0085 a0002c0002t0001g0282 others(12): Show a0002c0002t0001g0032 a0002c0002t0001g0085 a0002c0002t0001g0282 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0300 a0002c0002t0001g0313 a0009c0012t0001g0225 a0016c0039t0001g0281	15	350	0.0429	466	c.248 others(481): Show c.2483+67_2483+68insCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCGCCTCCCCCTCCCCCTCCCCTCGCCTTCCCCTCCCCCTCCCCT CGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTTCCCCTCCCCTC CCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCATCCTCCCCTCCC CCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTCCCCTC CCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCTCCCCT CCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCTCCTCCCCTCACC TTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCCCCCTCCCACCC GTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCTCCCCTCCCACC CTTCCACTCCCCTCACCTCCTCCTCCCCCTCCCCTC	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ARHGAP39_chr8_144524179_144690846	144687758	C C	CCCCGTGA others(459): Show CCCCGTGACCACACACTAGCGGCGAGCACTTCCCACCCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCA CTTCCCACCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCTGT GACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTAGC GGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGCGAGCACTTCCC ACCCCCGTGACCACGCACTAGCGGTGAGCACTTCCCACCCCCGTGACCAC ACACTAGCAGTGAGCACTTCCCACCCCTGTGACCACACACTGGCGGCGAG CACTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATTTCCCACCCCC GTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGACCACGCACTG GCGGCGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	246	0.0041	466	c.-21 others(477): Show c.-2155_-2154insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTC GCCGCCAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACAGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGG AAGTGCTCACCGCTAGTGCGTGGTCACGGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACAGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACG GGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGC TCACCGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTG TGGTCACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGGTG GGAAGTGCTCGCCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1913		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687797	C C	CCGTGACC others(459): Show CCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACT GGCGGTGAGCACTTCCCACCCCCGTGACCACACACTGGCGGTGAGCACTT CCCACCCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGAC CACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACACACCAGCAGT GAGCACTTCCCACCCCCGTGACCACACACCAGCAGTGAGCACTTCCCACC CCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACAC TGGCGGCGACCATTTCCCACCCCCGTGACCACGCACTGGCGGCGACCATT TCCCACCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCCGTGA CCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACATTTACAGT GAGCACTTCCCACCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0049 a0006c0012t0001g0049	1	246	0.0041	466	c.-21 others(477): Show c.-2194_-2193insAGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTC ACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGT GCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTG CGTGGTCACGGGGGTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACT GCTGGTGTGTGGTCACGGGGGTGGGAAGTGCTCACTGCTGGTGTGTGGTC ACGGGGGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGGTGGGAAG TGCTCGCTGTAAATGAGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGG TGGGAAGTGCTCACTGCTAGTGTGTGGTCACG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1952		chr8	TogoVar
C20orf96_chr20_265863_295750	279069	A A	AGGGCGGG others(459): Show AGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAG GGAGGGAGGGCGGGACGGAGGGAGGGAGGGCGGGACGGAGGGACGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGACGGAGGGCGGGACGGCG GGAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGCGGGAGGG AGGGAGGGCGGGACGGAGGGAGGGAGGGAGGGAGGGCGGGACGGAGGGAG GGAGGGAGGGAGGGACGGAGGGACGGAGGGAGGGAGGGAGGGAGGGACGG AGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAGGGAGGGCGGGACGGAGG GAGGGAGGGAGGGACGGAGGGCGGGACGGAGGGAGGGAGGGCGGAGGGAG GGAGGGCGGGACGGAGGGAGGGAGGGCGGGAGGGATGGAGGGAGGGAGGG CGGGACGGAGGGAGGGC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0216 a0002c0005t0001g0216	1	410	0.0024	466	c.465 others(481): Show c.465+102_465+103insGCCCTCCCTCCGTCCCGCCCTCCCTCCCTC CATCCCTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGCCCT CCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCGCC CTCCCTCCCTCCGCCCTCCCTCCCTCCGTCCCGCCCTCCGTCCCTCCCTC CCTCCCTCCCTCCGTCCCTCCGTCCCTCCCTCCCTCCCTCCCTCCGTCCC GCCCTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCCGCCCTC CGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCGTCCCGCCC TCCGTCCCTCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTC CGTCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCTCCCTCCGTCCCTCCG TCCCGCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CACNA1H_chr16_1148106_1226768	1186101	A A	ACGGCGTG others(459): Show ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAG ACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAG ACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGA GTAGACGGTCGGCGTGCATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGG GCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAG GTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGG GTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTATGGG GCGGGTGAGTAGACGGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0056 a0005c0056	a0005c0056t0038 a0005c0056t0038	a0005c0056t0038g0224 a0005c0056t0038g0224	1	338	0.0030	466	c.300 others(483): Show c.300-8832_300-8831insAGGTGAGTAGACGGCGTGCGTAGGGGCC GGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGG GGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCA TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCG TAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCG TGCGTAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CELSR1_chr22_46356174_46542620	46366247	G G	GGGGCAGG others(459): Show GGGGCAGGGAGGGAAGTTGCGGGTGGGAAGAAAGGTGGGGGGGAGGAGAG GTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGA AAGGTGCGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCACGGGGG GGGAGGAGAGGTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGC ACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGG TGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGCGGGGGGAGGAAAG GTGCGGGGGGAGGAAAGGTGCGCGGGGGGAGGAAAGGTGCGGGGGGAGGA AAGGTGCACGGGGGGGGAGGAGAGGTGCACGGGGGGAGGAGAGGTGCGGG GGGAGGAAAGGTGCACGGGGGGAGGAAAGGTGCGGGGGGAGGAAAGGTGC GGGGGGAGGAAAGGTGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0050 a0003c0050	a0003c0050t0003 a0003c0050t0003	a0003c0050t0003g0053 a0003c0050t0003g0053	1	104	0.0096	466	c.830 others(483): Show c.8300+138_8300+139insGCACCTTTCCTCCCCCCGCACCTTTCCT CCCCCCGCACCTTTCCTCCCCCCGTGCACCTTTCCTCCCCCCGCACCTCT CCTCCCCCCGTGCACCTCTCCTCCCCCCCCGTGCACCTTTCCTCCCCCCG CACCTTTCCTCCCCCCGCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCC CCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCC CCCGCACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTTTCCT CCCCCCGCACCTTTCCTCCCCCCGTGCACCTCTCCTCCCCCCCCGTGCAC CTTTCCTCCCCCCGCACCTTTCCTCCCCCCGCGCACCTTTCCTCCCCCCG CACCTTTCCTCCCCCCGCACCTTTCCTCCCCCCGTGCACCTCTCCTCCCC CCCACCTTTCTTCCCACCCGCAACTTCCCTCCCTGCCC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
COL18A1_chr21_45400165_45518720	45501007	G G	GTGTGTAG others(459): Show GTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTGTGTTGGGTGTGTAGTG TGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTT GGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGT GTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTG TGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTG TGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTGT AGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTG GTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGG GTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGG GGTGTGGTTTGGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0003 a0002c0018t0003	a0002c0018t0003g0156 a0002c0018t0003g0156	1	292	0.0034	466	c.268 others(485): Show c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTTGTGTGT GTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTTGTGTGTGTTGGGTGTG TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGG GGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGG GTGTGGTTTGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(459): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATATATAT CAGATATATATATCATATATATCATATATATCATTTGTATCATATATATA TCATATATATCATATGTATCATATATATCATATATATCATGTATATATCA TATATATCATATATGTATTCATATATATCATATATTCATATATAATATAT ATTCATATATCATATATATTCATATATATCATATAAATTCATATATCATA TATATTCATATATATCATATATATTCATATATATATCATATATATTCATA TATATCATATATATTCATATATATATCATATATATTCATATATATCATAT ATATTCATATATATATC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0037 a0002c0009t0004g0037	1	182	0.0055	466	c.267 others(483): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATATATAT CATTTGTATCATATATATATCATATATATCATATGTATCATATATATCAT ATATATCATGTATATATCATATATATCATATATGTATTCATATATATCAT ATATTCATATATAATATATATTCATATATCATATATATTCATATATATCA TATAAATTCATATATCATATATATTCATATATATCATATATATTCATATA TATATCATATATATTCATATATATCATATATATTCATATATATATCATAT ATATTCATATATATCATATATATTCATATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
CSF2RA_chrX_1263814_1314935	1284626	C C	CGAGATCT others(459): Show CGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTTTTT TTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTC CCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCC AAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTAT GTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTGAGATGGAGT CTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGT AGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAATTTTTT TTTTTAATTTTATAGAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0103 a0001c0002t0001g0103	1	159	0.0063	466	c.77- others(481): Show c.77-1096_77-1095insTTGAGATGGAGTCTTACTCTGTCTCCCAGG CTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGG ATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAAT ACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGAG GAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTT TTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTC CAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTA ATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCA AGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284661	T T	TTTTTTTT others(459): Show TTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTCCC AGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCT GGGATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGA AATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATA GAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTT TTTTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCA CTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAG CTAATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTG CCAAGACTAGTTTTTGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	159	0.0063	466	c.77- others(481): Show c.77-1096_77-1095insTTTGAGATGGAGTCTTACTCTGTCTCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTTCTGG GATCAAGTATCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAA TACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTTAATTTTATAGA GGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTT TTTTGAGATGGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACT CCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCT AATTTAAATTTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCC AAGACTAGTTTTTGATTTTTTTTTTTTTTTTTTTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1284738	C C	CACTGCAG others(459): Show CACTGCAGCCTCAGCTTTCTGGGATCAAGTATCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT ATATTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAG TTTTTGATTTTTCTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTCTC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGCCTCAGCTTT CTGGGATCAAGTACCCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCA GAAATACACCACCATGCCAAGCTAATTTAAATTTTTTTTTTTAATTTTAT AGAGGAGATCTTGCTATGTTGCCAAGACTAGTTTTTGATTTTTTTTTTTT TTTTTTTTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19081.hp1 NA19087.hp1 NA18980.hp1 NA19081.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0004 a0001c0001t0001 a0001c0001t0004 a0001c0002t0004	a0001c0001t0001g0025 a0001c0001t0004g0012 a0001c0002t0004g0050 a0001c0001t0001g0025 a0001c0001t0004g0012 a0001c0002t0004g0050	3	159	0.0189	466	c.77- others(481): Show c.77-1039_77-1038insCTGCAGCCTCAGCTTTCTGGGATCAAGTAT CCTCCCACTCCAGCCTCCCAAGTAGCTGGGACTGCAGAAATACACCACCA TGCCAAGCTAATTTAAATATATTTTTTTTAATTTTATAGAGGAGATCTTG CTATGTTGCCAAGACTAGTTTTTGATTTTTCTTTTTTTTTTTTTTGAGAT GGAGTCTTACTCTGTCTCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAGCCTCAGCTTTCTGGGATCAAGTACCCTCCCACTCCAGCCTCC CAAGTAGCTGGGACTGCAGAAATACACCACCATGCCAAGCTAATTTAAAT TTTTTTTTTTAATTTTATAGAGGAGATCTTGCTATGTTGCCAAGACTAGT TTTTGATTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTACTCTGTC ACCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTTA	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3411693	C C	CACGTGTA others(459): Show CACGTGTATATATACACACGTGTATATATACGTATATATACACGCGTGTA TATACACGTATATATACACATATATACACGTGTATATATACACGTATATA TACACATATATACACGTGTATATATACACGTGTATATACACGTGTATATA TACGTATATATACGTGTGTATATATACGTATATATATACGTGTGTATATA TACGTATATATATACGTGTGTATATATACGTATATATATACGTGTGTATA TATACGTATATATATACGTGTGTATATATACGTATATATATACGTGTGTA TATATACGTATATATATACGTGTGTATATATACGTATATATATACGTGTG CATATATATATATACGTATATATATACGTGTATGTATACGTATATATACG TATATATACACGTATATATACACGTATATATACACGTATATATACACGTA TATATACACGTATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0024 a0016c0028t0024	a0016c0028t0024g0040 a0016c0028t0024g0040	1	126	0.0079	466	c.156 others(485): Show c.1562-2089_1562-2088insATATATACGTGTATATATACGTGTAT ATATACGTGTATATATACGTGTATATATACGTGTATATATACGTATATAT ACGTATACATACACGTATATATATACGTATATATATATATGCACACGTAT ATATATACGTATATATACACACGTATATATATACGTATATATACACACGT ATATATATACGTATATATACACACGTATATATATACGTATATATACACAC GTATATATATACGTATATATACACACGTATATATATACGTATATATACAC ACGTATATATATACGTATATATACACACGTATATATACGTATATATACAC GTGTATATACACGTGTATATATACACGTGTATATATGTGTATATATACGT GTATATATACACGTGTATATATGTGTATATATACGTGTATATACACGCGT GTATATATACGTATATATACACGTGTGTATATATACACGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
DNAJB6_chr7_157332004_157422439	157369727	C C	CACATTAT others(459): Show CACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAACATCATTATT AAACAGGCCTTTCATAACGTTATTATTAAACGAGCCCCTTCTTAACATCA TTATTAAACAGGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTTAA CATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCCCT TCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCC CTTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAA CAGGCCCCTTCTTAACATTATTATTAAACGGGACCCTTCTTAAGATTATT AAACGGGCCCTTTCTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	372	0.0027	466	c.346 others(483): Show c.346+2381_346+2382insAACATCATTATTAAACAGGCCTTTCATA ACGTTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACAGGCCTT TCATAACGTTATTATTAAACGGGCCCCTTCTTAACATTATTATTAAACAG GCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAACATTATTATT AAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTTTCTTAACATTATT ATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCCCTTCTTAAC ATTATTATTAAACGGGACCCTTCTTAAGATTATTAAACGGGCCCTTTCTT AACATTATTATTAAACAGGCCCCTTCTTAACATTATTATTAAACAGGCCT TTCATAACATTATTATTAAACGAGCCCCTTCTTAACATCATTATTAAACA GGCCTTTCATAACGTTATTATTAAACGGGCCCCTTCTT	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716115	T T	TGGGGGAG others(459): Show TGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGG TGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATG GTGGGGGAGGAAATTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGG	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0018	1	170	0.0059	466	c.86- others(479): Show c.86-466_86-465insTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGT TGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGT GGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAATTGTGGTGTCGTGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAG TTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERICH1_chr8_659200_736224	671313	G G	GCCCCGGC others(459): Show GCCCCGGCTCTAATGTCTGCGCTCACTGGGCTCCAGGCTGAGACCTCTGA ACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCACTGGGCTCCAGGCTGAG ACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGCGCTCACTGGGCTCC AGGCTGAGACCTCTGAACCTGCCGGCCCCGGCTCTAATGTCTGTGCTCAC TGGTCCCCAGGCTCCGACCTCTGAACGTGCCAGCCCCGGTTCTAATGTCT GTGCTCACTGGGCTCCAGGCTCCGACCTCTGAACCTGCCGGCCCTGGCTG TAATGTCTGTGCCCACTGGTCCCCCAGGCTCTGACCTCTGAACCCGCTGG CCCCTGCTCCGACCACTGAGCGCGCTGGTCCCCAGGCTCCGACCTCTGAA CCTGCCGGCCCCGGCTCTAATGTCTGCGCTCACTGGGCTCCAGGCTGAGA CCTCTGAACCTGCCGGC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	378	0.0027	466	c.106 others(485): Show c.1063+1975_1063+1976insGCCGGCAGGTTCAGAGGTCTCAGCCT GGAGCCCAGTGAGCGCAGACATTAGAGCCGGGGCCGGCAGGTTCAGAGGT CGGAGCCTGGGGACCAGCGCGCTCAGTGGTCGGAGCAGGGGCCAGCGGGT TCAGAGGTCAGAGCCTGGGGGACCAGTGGGCACAGACATTACAGCCAGGG CCGGCAGGTTCAGAGGTCGGAGCCTGGAGCCCAGTGAGCACAGACATTAG AACCGGGGCTGGCACGTTCAGAGGTCGGAGCCTGGGGACCAGTGAGCACA GACATTAGAGCCGGGGCCGGCAGGTTCAGAGGTCTCAGCCTGGAGCCCAG TGAGCGCAGACATTAGAGCCGGGGCCGGCAGGTTCAGAGGTCTCAGCCTG GAGCCCAGTGAGCGCAGACATTAGAGCCGGGGCCGGCAGGTTCAGAGGTC TCAGCCTGGAGCCCAGTGAGCGCAGACATTAGAGCCGGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
EXD3_chr9_137301896_137428162	137341762	G G	GGGGCTCA others(459): Show GGGGCTCAGGCACCAGGAGCCGTCTCCCAGGGGAGTCAGAGGAAACAGGG CTCAGGCACCAGGAGCCGTCTCCCAGGGGAGTCAGAGGAAACAGGGCTCA GGCACCAGGAGCCGTCTCCCAGGAGCCGTCTCCCAGGGGAGTCAGAGGAA ACAGGGCTCAGGCACCAGGAGCCGTCTCCCAGGGGAGTCAGAGGAAACAG GGCTCAGGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCA GGCACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCACC AGGAGCCGTCTCCCAGGGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGA GCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGAGCCGTC TCCCAGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGAGCCGTCTCCCAG GGGAGTCAGAGGAAACA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0018 a0018	a0018c0014 a0018c0014	a0018c0014t0001 a0018c0014t0001	a0018c0014t0001g0072 a0018c0014t0001g0072	1	82	0.0122	466	c.199 others(485): Show c.1998+6308_1998+6309insTGTTTCCTCTGACTCCCCTGGGAGAC GGCTCCTGGTGCCTGAGCCCCGTTTCCTCTGACTCCTGGGAGACGGCTCC TGGTGCCTGAGCCCCGTTTCCTCTGACTCCTGGGAGACGGCTCCTGGTGC CTGAGCCCCGTTTCCTCTGACTCCCCTGGGAGACGGCTCCTGGTGCCTGA GCCCCGTTTCCTCTGACTCCTGGGAGACGGCTCCTGGTGCCTGAGCCCCG TTTCCTCTGACTCCTGGGAGACGGCTCCTGGTGCCTGAGCCCTGTTTCCT CTGACTCCCCTGGGAGACGGCTCCTGGTGCCTGAGCCCTGTTTCCTCTGA CTCCCCTGGGAGACGGCTCCTGGGAGACGGCTCCTGGTGCCTGAGCCCTG TTTCCTCTGACTCCCCTGGGAGACGGCTCCTGGTGCCTGAGCCCTGTTTC CTCTGACTCCCCTGGGAGACGGCTCCTGGTGCCTGAGCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
FBN2_chr5_128252909_128543245	128539754	C C	CATATATA others(459): Show CATATATAACATATGATATATATATCATATATATCATATATATTATATCA TATATATTATATCATATATCATATATATGATATATATGATAGATCATATA TTATATCATATATATCATATATATGATAGATCATATATGATCTATCATAT ATATCATATCATATATATCATATATCACATATATCATATATCACATATAT CATATATATCATATATCACATATATCATATATATCATATATCATATATAT CATATATCACATATATCATATATATCACATATCATATATATCACATATCA TATATATCATATATCATATATCATATATATCATATATCATATATATCATA TATATCATATATCATATATATCATATATATCATATATCATATATATCATA TATATCATATATCATATATATCATATATATCATATATCATATATATCATA TATATCATATATCATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0026 a0001c0030t0026	a0001c0030t0026g0116 a0001c0030t0026g0116	1	236	0.0042	466	c.-21 others(477): Show c.-2152_-2151insATATGATATATGATATATATGATATATATGATAT ATGATATATATGATATATATGATATATGATATATATGATATATATGATAT ATGATATATATGATATATATGATATATGATATATATGATATATATGATAT ATGATATATATGATATATGATATATGATATATATGATATGTGATATATAT GATATGTGATATATATGATATATGTGATATATGATATATATGATATATGA TATATATGATATATGTGATATATGATATATATGATATATGTGATATATGA TATATGTGATATATGATATATATGATATGATATATATGATAGATCATATA TGATCTATCATATATATGATATATATGATATAATATATGATCTATCATAT ATATCATATATATGATATATGATATAATATATATGATATAATATATATGA TATATATGATATATATATCATATGTTATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1510		chr5	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(459): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAAAAAAAAAAAAAAGAA AAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGT TGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGAC CTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGAC TAAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAA ATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCAC TTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCT GGGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	460	0.0022	466	c.33 others(477): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGCTCTGTCTCAAA AAAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGC AGGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCT CACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTC CTGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTA CTTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACAC AGGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAA ATACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GADD45B_chr19_2471127_2483257	2480930	A A	ACCTGTAG others(459): Show ACCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAAC CCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAAAAAAAAAAAAAAGAA AAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGCAGGGTCATGCTCTGT TGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCTCACTGCAGCCTCGAC CTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTCCTGAGTAGCTGGGAC TAAAGGTGCACACCACCATGCCTAGCTATTTGTTACTTTTTTTTGTAGAA ATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACACAGGTAATCTCAGCAC TTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACGAAAATTAGCT GGGTGTGGTGGTGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 NA18978.hp1 NA18979.hp1 others(1): Show HG02809.hp1 NA18978.hp1 NA18979.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0003g0018 others(1): Show a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0003g0018 a0001c0001t0004g0001	4	460	0.0087	466	c.33 others(477): Show c.3329_*3330insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGCAGAGATACTGCCACTGCGGTCTGTCTCAAA AAAAAAAAAAAAGAAAAAAAATTAAAAAAGAAAAACAACAAAAAAGAAGC AGGGTCATGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCATGACCGTGGCT CACTGCAGCCTCGACCTCCTGGGCTCAAGCAATCCTCCAGCCTCAGCCTC CTGAGTAGCTGGGACTAAAGGTGCACACCACCATGCCTAGCTATTTGTTA CTTTTTTTTGTAGAAATGGGGTCTCACTGGCTGGGCGCGGTGGCTCACAC AGGTAATCTCAGCACTTTGGGAGGCCGAGACAGGCGGATCACGAGGTCAG GAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAA ATACGAAAATTAGCTGGGTGTGGTGGTGGGCG	GADD45B	ENSG00000099860.9	transcript	ENST00000215631.9	protein_coding		2674		chr19	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(459): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATAAATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	208	0.0048	466	c.-97 others(483): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATAAATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(459): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATAGTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	208	0.0048	466	c.-97 others(483): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATAGTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(459): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATATATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04228.hp1 HG02155.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0004 a0001c0012t0001 a0001c0001t0004 a0001c0012t0001	a0001c0001t0004g0162 a0001c0012t0001g0121 a0001c0001t0004g0162 a0001c0012t0001g0121	2	208	0.0096	466	c.-97 others(483): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATATATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(459): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00609.hp1 others(58): Show HG00280.hp1 HG00597.hp1 HG00609.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01258.hp1 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02572.hp1 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG03041.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 NA18747.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18975.hp1 NA18982.hp1 NA18986.hp1 NA18991.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19062.hp1 NA19064.hp2 NA19074.hp2 NA19079.hp1 NA19083.hp1 NA19086.hp1 NA19087.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0009 a0011 others(1): Show a0001 a0009 a0011 a0014	a0001c0001 a0009c0007 a0011c0016 others(1): Show a0001c0001 a0009c0007 a0011c0016 a0014c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0024 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0009c0007t0039 a0011c0016t0043 a0014c0013t0050	a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0050 others(57): Show a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0178 a0001c0001t0003g0027 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0161 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0006g0048 a0001c0001t0006g0153 a0001c0001t0006g0172 a0001c0001t0008g0072 a0001c0001t0008g0194 a0001c0001t0015g0070 a0001c0001t0018g0116 a0001c0001t0018g0179 a0001c0001t0024g0190 a0001c0001t0032g0205 a0001c0001t0034g0078 a0001c0001t0035g0141 a0001c0001t0036g0092 a0001c0001t0044g0180 a0001c0001t0045g0095 a0001c0001t0047g0069 a0001c0001t0048g0149 a0001c0001t0049g0084 a0009c0007t0039g0143 a0011c0016t0043g0177 a0014c0013t0050g0139	61	208	0.2933	466	c.-97 others(483): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(459): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAAGTATAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	208	0.0048	466	c.-97 others(483): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAAGTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(459): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATGTAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTA TTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	208	0.0048	466	c.-97 others(483): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATGTAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAAATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(459): Show CCCTCCCCCTCCTCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCCACT CCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCTC CTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTACCCC CTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTACCCC CTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0021 a0021	a0021c0066 a0021c0066	a0021c0066t0001 a0021c0066t0001	a0021c0066t0001g0095 a0021c0066t0001g0095	1	290	0.0035	466	c.427 others(483): Show c.427-1072_427-1071insCCCTCCTCCCTCCTCCTCCCCCCTCCTC CTCCCCCCCTCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTC CCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCC TCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCC TCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCTACCCCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTC CTCCTCCTCCTACCCCCTCCTCCTCCTCCTCCTCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(459): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACACACCACAAACACAACCACACACACCAC ACATACCACACACACACCACACATACCACACACACACCACACACACAACC ACACACACCACACCATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02572.hp2 HG02630.hp1 others(15): Show HG00673.hp1 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03688.hp2 HG03942.hp1 HG04199.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0018 a0001c0063	a0001c0001t0013 a0001c0001t0118 a0001c0002t0008 others(14): Show a0001c0001t0013 a0001c0001t0118 a0001c0002t0008 a0001c0002t0009 a0001c0005t0032 a0001c0006t0002 a0001c0006t0022 a0001c0008t0012 a0001c0008t0138 a0001c0008t0146 a0001c0009t0109 a0001c0010t0008 a0001c0010t0102 a0001c0010t0156 a0001c0013t0035 a0001c0018t0072 a0001c0063t0103	a0001c0001t0013g0127 a0001c0001t0118g0207 a0001c0002t0008g0192 others(15): Show a0001c0001t0013g0127 a0001c0001t0118g0207 a0001c0002t0008g0192 a0001c0002t0009g0101 a0001c0005t0032g0107 a0001c0005t0032g0108 a0001c0006t0002g0040 a0001c0006t0022g0058 a0001c0008t0012g0077 a0001c0008t0138g0113 a0001c0008t0146g0118 a0001c0009t0109g0198 a0001c0010t0008g0133 a0001c0010t0102g0099 a0001c0010t0156g0286 a0001c0013t0035g0189 a0001c0018t0072g0079 a0001c0063t0103g0144	18	300	0.0600	466	c.203 others(483): Show c.2030-441_2030-440insTATGGTGTGGTGTGTGTGGTTGTGTGTG TGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGT GGTTGTGTTTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGT GGTGTGTGTGTGTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGT GTGTATGGTGTGTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTG TGTGGTGTGTGTGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGG TGTGTGGTGTATGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGG TGTGTGGCGTGGGTGTGTGTAGTATGTGTGTGATTTGTGTGGTGTGTGTG GTGTGTGGTATGGTGTGTGAGGTGTGCATGTGGTGTGTGTGTGGTGCATG TATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(459): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCCTCCCCCCTCTCTCTCC CCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCC CCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCC CCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCC CATCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	158	0.0063	466	c.11 others(487): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC CTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCT CTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCT CCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCAT CCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCT CCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCC CCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(459): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCC CCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCC ATCCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTC TCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0111 a0003c0002t0002g0111	1	158	0.0063	466	c.11 others(487): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCCTCCCCCTCATCCCCCTCCCCCTCAT CCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCT CCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCC CCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(459): Show CTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCT GTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCC CCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCTCCCCCCTCTCCCCTC CCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCCCCCCCATCCCC CTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTC CCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTTCCCTCTCT CTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCT CCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02155.hp2 HG01361.hp1 HG02155.hp2	a0002 a0003 a0002 a0003	a0002c0005 a0003c0003 a0002c0005 a0003c0003	a0002c0005t0005 a0003c0003t0005 a0002c0005t0005 a0003c0003t0005	a0002c0005t0005g0130 a0003c0003t0005g0072 a0002c0005t0005g0130 a0003c0003t0005g0072	2	158	0.0127	466	c.11 others(487): Show c.1103+4110_*1103+4111insCCTCCCCCTCTCTCTCCCCCTCCC CCCTCTCTGTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTC CCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCC TCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCTCCCCCCT CTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCTCCCCCTCCCCC CCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCC CCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTT CCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTTCCCTCT CTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(459): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGGGGGTGGGGGCC ACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTA AAGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCC ATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGT GAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCA CCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGA GAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGC CACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGT GAGAGGGTGGGGGCCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0017 a0001c0002t0010g0017	1	330	0.0030	466	c.430 others(481): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGTTCCTGATGGCGGCCCCCACC CCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCTTTACTCAGGGGTCC TGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCCACCCCC TCACTCAGGGGTCCTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGC AGGCAGCCCCCACCCCTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786775	A A	AGGAACCC others(459): Show AGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAG AGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCA CCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCA GGACCCCTGAGTGAGAGGGTGGGGGCCACCATCAGGAACCCTGAGTGAGA GGGTGGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCAC CAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGGGG GTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGGGGTGGGGGCCGCCATCAG GACCCCTGAGTGAGAGGGTGGGGGCCAGTATCAGGACCCCTGAGTGAGGG GGTGGGGGCTGCCTGCT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0104 a0001c0002t0005g0104	1	330	0.0030	466	c.430 others(481): Show c.430-263_430-262insAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCC CCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGG GGTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTA CCCTCTCACTCAGGGGTCCTGATGGTGGCCCCCACCCTCTCACTCAGGGT TCCTGATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGGCCCC CACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGG GTCCTGATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTAC CCTCTCACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGT CCTGATGGCAGCCCCTACCCTCTCACTCAGGGTTCC	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCTCCCCC others(459): Show TCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCT CCCTCTCCTCCCCCCTCCTCCCCCTTCCCCTCCCCCTCCTCCCCCTCTCC CCCTCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCTCC CCCTCCTCCTCCCCCTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCC CTCCTCCCCCTCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCC TCCTCCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGCTCCCCT CCCCCTCCTCCCTCTCCTCCCCCTCCCCCTCCTCCCTCTCCTCCCCCTTC CCCTCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCTCCCCCTCCT CCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCTCCCCTCCC TCTCTTCCCCCTGCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18747.hp2 NA18952.hp1 others(6): Show HG00140.hp2 NA18747.hp2 NA18952.hp1 NA18963.hp1 NA18970.hp1 NA19007.hp1 NA19062.hp2 NA19074.hp1 NA19090.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0006 a0001c0001t0019 a0001c0001t0046 others(2): Show a0001c0001t0006 a0001c0001t0019 a0001c0001t0046 a0001c0001t0114 a0005c0008t0129	a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0046 others(6): Show a0001c0001t0006g0040 a0001c0001t0006g0041 a0001c0001t0006g0046 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0019g0047 a0001c0001t0046g0037 a0001c0001t0114g0050 a0005c0008t0129g0039	9	400	0.0225	466	c.121 others(485): Show c.1214-2392_1214-2391insTCCCCCTCCTCCCCCCTCCCCCTCCT CCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCCTCCTCCCCCTTCC CCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCCCTCCTC CTCCCCCTCCTCCCTCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCTCCT CCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCC TCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTCCCCCTCCTCCCCCCTC CCTCTCCTCCCCCTGCTCCCCTCCCCCTCCTCCCTCTCCTCCCCCTCCCC CTCCTCCCTCTCCTCCCCCTTCCCCTCCCCCTCCCCCTCCTCCCCCCTCC CCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCCTCCCTCT CCTCCCCCTCCTCTCCCCTCCCTCTCTTCCCCCTGCTCCC	KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
LHPP_chr10_124456823_124619141	124506889	T T	TGAGGGGG others(459): Show TGAGGGGGGTAGGGAGGATTTCAGGTCGGGGGGTAGACAGGATTTCAGGT GAGGCGGGTAGGGAGGATTTCAGGTGCAGGGGTAGACAGGATTTCAGGTC GGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGTCA GGGGGATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTGTG GAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGCAGGATTTCAGGTCGGG GGGGTAGACAGGATTTCAGTTGGGGGGGTAGACAGGATTTCAGTTGGGGG GGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGTATTTCAGGTGGGGGGG TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGAT AGGGAGTATTTCAGGTG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	260	0.0039	466	c.624 others(483): Show c.624+8761_624+8762insGAGGGGGGTAGGGAGGATTTCAGGTCGG GGGGTAGACAGGATTTCAGGTGAGGCGGGTAGGGAGGATTTCAGGTGCAG GGGTAGACAGGATTTCAGGTCGGGGGGTTAGAGAGGATTTCAGGTGGGAG GGTAGGCAGGATTTCAGGTCAGGGGGATAGACAGGATTTCAGGTGGGGGG ATAGGGAAGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG TAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGTTGGGGGGGT AGACAGGATTTCAGTTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAG GGAGTATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LHPP_chr10_124456823_124619141	124507139	T T	TAGGGAGG others(459): Show TAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGAT AGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATA GGGAGTATTTCAGGTGGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGT AGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTA GACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGGGGAGTAGGC AGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGGTAGGGA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	260	0.0039	466	c.624 others(483): Show c.624+9011_624+9012insAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGA GTATTTCAGGTGGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGGTAGGG AGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAG GATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGA TTTCAGGTGGGGAGGTAGGGAGGATTTCAGGTGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(459): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG GAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGT GGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAG GAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAG GAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0058 a0001c0014t0058	a0001c0014t0058g0001 a0001c0014t0058g0001	1	414	0.0024	466	c.-43 others(477): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGG GTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGA GTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGT GCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRK2_chr12_40219997_40374285	40247664	A A	ATATTTAT others(459): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGTTGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0004 a0003c0011t0004	a0003c0011t0004g0138 a0003c0011t0004g0138	1	382	0.0026	466	c.839 others(483): Show c.839-2162_839-2161insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGTTGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATCTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247664	A A	ATATTTAT others(459): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGTTGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03942.hp1 HG04204.hp2 others(1): Show HG01261.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0036 a0002c0001 a0003c0004 a0001c0036 a0002c0001 a0003c0004	a0001c0036t0003 a0002c0001t0001 a0003c0004t0004 a0001c0036t0003 a0002c0001t0001 a0003c0004t0004	a0001c0036t0003g0285 a0002c0001t0001g0283 a0003c0004t0004g0284 others(1): Show a0001c0036t0003g0285 a0002c0001t0001g0283 a0003c0004t0004g0284 a0003c0004t0004g0300	4	382	0.0105	466	c.839 others(483): Show c.839-2162_839-2161insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGTTGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(459): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01978.hp1 NA18985.hp1 HG01943.hp1 HG01978.hp1 NA18985.hp1	a0007 a0016 a0007 a0016	a0007c0012 a0016c0033 a0007c0012 a0016c0033	a0007c0012t0003 a0016c0033t0003 a0007c0012t0003 a0016c0033t0003	a0007c0012t0003g0335 a0016c0033t0003g0328 a0016c0033t0003g0336 a0007c0012t0003g0335 a0016c0033t0003g0328 a0016c0033t0003g0336	3	382	0.0079	466	c.839 others(483): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar
LRRK2_chr12_40219997_40374285	40247728	A A	ATATTTAT others(459): Show ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGTTGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATCTATATAAATATACATATTTATACACAGATCTATATAAATATAC ATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTAT ATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATAC ACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATAC ATATTTATACACAGATG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0001 a0003c0040t0001	a0003c0040t0001g0014 a0003c0040t0001g0014	1	382	0.0026	466	c.839 others(483): Show c.839-2098_839-2097insTATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGTTGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATCTATATAAATATACATATTTATA CACAGATCTATATAAATATACATATTTATACACAGATGTATATAAATATA CATATTTATACACAGATGTATATAAATATACATATTTATACACAGATGTA TATAAATATACATATTTATACACAGATGTATATAAATATACATATTTATA CACAGATGTATATAAATATACATATTTATACACAGATG	LRRK2	ENSG00000188906.17	transcript	ENST00000298910.12	protein_coding	7/50			chr12	TogoVar

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