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
JPH2_chr20_44101590_44192188	44132792	A A	ACCCACCC others(182): Show ACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCAC CGTCCCCCTCCACACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCA CACCTGCAGCTCTCACCCACCCCCACCGTCCCCCTCCACACCTGCAGCTC TCACCCACCCCCACCGTCCCCCTCCACACGTGTAGCTCTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02559.hp1 NA19066.hp2 HG01884.hp1 HG02559.hp1 NA19066.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0044 a0001c0004t0113 a0001c0006t0105 a0001c0004t0044 a0001c0004t0113 a0001c0006t0105	a0001c0004t0044g0092 a0001c0004t0113g0334 a0001c0006t0105g0311 a0001c0004t0044g0092 a0001c0004t0113g0334 a0001c0006t0105g0311	3	13	0.2308	189	c.117 others(210): Show c.1170-14170_1170-14169insGAGAGCTACACGTGTGGAGGGGGA CGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGG GTGAGAGCTGCAGGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCA GGTGTGGAGGGGGACGGTGGGGGTGGGTGAGAGCTGCAGGTGTGGAGGGG GACGGTGGGGGTGGG	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134553	A A	ATAAATAA others(182): Show ATAAATAAATATAAATATATATTTATTTATATAAATAAATATATATTTAT TTATATAAATAAATATATATTTATTTATATATAATAAATATATATTTATT TATATAAATAAATATATATTTATTATATATAAATAAATATATATTTATTA TATATAAATAAATATATATTTATAATAAATATATATTTAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0127 a0001c0004t0016g0127	1	331	0.0030	189	c.117 others(210): Show c.1170-15931_1170-15930insATAAATATATATTTATTATAAATA TATATTTATTTATATATAATAAATATATATTTATTTATATATAATAAATA TATATTTATTTATATAAATAAATATATATTTATTATATATAAATAAATAT ATATTTATTTATATAAATAAATATATATTTATTTATATAAATAAATATAT ATTTATATTTATTTA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KANK1_chr9_499695_751103	725917	T T	TTAAATGT others(182): Show TTAAATGTTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCAC CCACTAATGTGTCATCTAGCATTAGTATATCTCCCAACGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	252	0.0040	189	c.269 others(208): Show c.2699-4118_2699-4117insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATG TGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGC GCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAACGATAA ATGTTTAATTTTT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KCNH1_chr1_210673314_211139148	210718343	T T	TATACATA others(182): Show TATACATATATTTATATATAAATATATGCATATATTTAATGCATAAATAT ATGCATATATTTAATACATAATATATGCATATATTTATGTATTAATATAT GCATATATTTAATACATAAATATATGCATATATTTAATACATAAATATAT GCATATATTTAATACATAAATATATGCATATATTTAATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0126 a0001c0001t0023g0126	1	157	0.0064	189	c.211 others(210): Show c.2113-34206_2113-34205insGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTTATGTATTAAATATATGCATATATTTA TGTATTAAATATATGCATATATTAATACATAAATATATGCATATATTATG TATTAAATATATGCATATATTTATGCATTAAATATATGCATATATTTATA TATAAATATATGTAT	KCNH1	ENSG00000143473.14	transcript	ENST00000271751.10	protein_coding	10/10			chr1	TogoVar
KCNJ6_chr21_37602373_37921457	37757150	A A	AGCGTGAT others(182): Show AGCGTGATGATTCCAGCCTGGAGTGAGCACTCCCTCACAGCATGATGGTT CCAGCCCAAGTGAGCACTCCCTCACAGATTCCAGCCCGGAGTGAGCACTC CCTCACAGTGTGATGATTCCAGCCCAGAGTGAGCACTCCCTCACAGCGTG ATGATTCCAGCCTGGAGTGAGCACTCCCTCACAGCGTGAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0167 a0001c0001t0015g0167	1	48	0.0208	189	c.26- others(206): Show c.26-42020_26-42019insATCACGCTGTGAGGGAGTGCTCACTCCA GGCTGGAATCATCACGCTGTGAGGGAGTGCTCACTCTGGGCTGGAATCAT CACACTGTGAGGGAGTGCTCACTCCGGGCTGGAATCTGTGAGGGAGTGCT CACTTGGGCTGGAACCATCATGCTGTGAGGGAGTGCTCACTCCAGGCTGG AATCATCACGC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNQ2_chr20_63395208_63477655	63442897	C C	CATCACCA others(182): Show CATCACCACCACCACCATCACCATCACCACCACCATCACCATTATCACCA CCACCATCACCACCATCACCATCACCACCACCACCATCACCATCACCATT ACCACCACCATTACCACCACCATCACCATCACCATCACCACCACCACCAC CACCACCATCACCATCACCACCACCATCACCATCACCATT	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18952.hp2 NA18990.hp2 HG00408.hp1 NA18952.hp2 NA18990.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0009 a0001c0003t0003 a0001c0003t0009	a0001c0003t0003g0273 a0001c0003t0003g0296 a0001c0003t0009g0208 a0001c0003t0003g0273 a0001c0003t0003g0296 a0001c0003t0009g0208	3	235	0.0128	189	c.691 others(204): Show c.691-367_691-366insAATGGTGATGGTGATGGTGGTGGTGATGGT GATGGTGGTGGTGGTGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTAA TGGTGGTGGTAATGGTGATGGTGATGGTGGTGGTGGTGATGGTGATGGTG GTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGATGGTGATGGTGGT GGTGGTGAT	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIAA0930_chr22_45187244_45245894	45228746	C C	CACCACTC others(182): Show CACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCAACCACCAAACACT CACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGAT CCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCC CCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0022 a0001c0001t0031g0022	1	394	0.0025	189	c.64+ others(206): Show c.64+11893_64+11894insAGGGGGGTGGAGAGGGATCTTTCGGGTG AGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGG GGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGG ATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGGGATGGGGAGGGATCTTTC GGGTGAGTGGT	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(182): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT CCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0070 a0001c0001t0015g0070	1	224	0.0045	189	c.-25 others(208): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTT CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(182): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	224	0.0045	189	c.-25 others(208): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(182): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0068 a0001c0001t0008g0068	1	224	0.0045	189	c.-25 others(208): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525937	T T	TCCTTCTT others(182): Show TCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTT CTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0157 a0001c0001t0003g0157	1	306	0.0033	189	c.-25 others(208): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTCCTTC TTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525964	T T	TTCTTCTC others(182): Show TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0063 a0001c0002t0063	a0001c0002t0063g0010 a0001c0002t0063g0010	1	222	0.0045	189	c.-25 others(208): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCCTCTTCTTCTTCCTCTTC TTCTTCCTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(182): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01978.hp1 HG00323.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0162 a0001c0001t0020g0146 a0001c0001t0010g0162 a0001c0001t0020g0146	2	174	0.0115	189	c.-25 others(208): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTC CTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGA others(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0276 a0001c0001t0008g0276	1	60	0.0167	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGG	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(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAAC GGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	60	0.0167	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGG	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(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGC GGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19030.hp1 HG01358.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0303 a0001c0001t0002g0267 a0001c0001t0002g0303	2	61	0.0328	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGG	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(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0282 a0001c0001t0008g0282	1	60	0.0167	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGG	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(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	60	0.0167	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCT GCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGG GGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGG	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(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	60	0.0167	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTG CGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGG GGGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGG GGCGGGAACGG	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(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAA CGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0150 a0001c0001t0006g0150	1	60	0.0167	189	c.317 others(206): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGG AACGGCGCTGCGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGC TGCGGGGGGGG	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(182): Show AGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0050 a0011c0027t0050	a0011c0027t0050g0069 a0011c0027t0050g0069	1	60	0.0167	189	c.317 others(206): Show c.317+1438_317+1439insGCGGGAACGGCGCTGCGGGGCGGGGGGG CGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGG AACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGG CGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGC TGCGGGGGGGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF25_chr6_167992671_168050091	168035444	A A	AGGCGGGG others(182): Show AGGCGGGGAACGGCGCTGCGGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGG GCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGA ACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	60	0.0167	189	c.317 others(206): Show c.317+1419_317+1420insGAACGGCGCTGCGGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAAC GGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGC TGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGCGGGAACGGCGCTGCGG GGGGGGGCGGG	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(182): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGG AGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	285	0.0035	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGAGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GGCGGGAACGG	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(182): Show CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGGGGGCGGGAACGGCGCTG CGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTGCGGG GGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGGGGGC GGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	285	0.0035	189	c.317 others(206): Show c.317+1447_317+1448insCGCTGCGGGGCGGGGGGGCGGGAACGGC GCTGCGGGGGGGGCGGGAACGGCGCTGCGGGGCGGGCGGGAACGGCGCTG CGGGGGGGCGGGAACGGCGCTGCGGGGGGGCGGGAACGGCGCTGCGGGGG GGGCGGGAACGGCGCTGCGGGGGGGGGGCGGGAACGGCGCTGCGGGGGGG GGCGGGAACGG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF3B_chr20_32272651_32340011	32322812	T T	TTATATAT others(182): Show TTATATATATATTTATATATTTATATATATATTTATATATTTATATTATA TTATATATTTATATATATTATATTTATTTATTTATATATATTTATTATAA TATATATTTATATATATTTATATTTATTTATTTATATATATTTATTTATA TATATATTTATATATATTTATATATATATTTATATATTTA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	240	0.0042	189	c.174 others(208): Show c.1749-3950_1749-3949insATTTATATATTTATATATATATTTAT ATATTTATATTATATTATATATTTATATATATTATATTTATTTATTTATA TATATTTATTATAATATATATTTATATATATTTATATTTATTTATTTATA TATATTTATTTATATATATATTTATATATATTTATATATATATTTATATA TTTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL6_chr3_183482551_183560706	183534073	C C	CCTTTAAA others(182): Show CCTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACTTTTA AAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTTACT TTTAAAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTT TACTTTTAAAGTACTTTAAAAGTACTTTACTTTTAAAGTA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	134	0.0075	189	c.294 others(206): Show c.294-6064_294-6063insTACTTTAAAAGTAAAGTACTTTTAAAGT ACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACTTTTA AAGTACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACT TTTAAAGTACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAG TACTTTTAAAG	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
KLHL6_chr3_183482551_183560706	183534094	T T	TAAAGTAC others(182): Show TAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTTTACTTTTAAAG TACTTTAAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTACTTTTACTT TTAAAGTACTTTAAAAGTACTTTACTTTTAAAGTACTTTAAAAGTACTTT ACTTTTAAAGTACTTTTACTTTTAAAGTACTTTAAAAGTA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0120 a0001c0010t0120	a0001c0010t0120g0092 a0001c0010t0120g0092	1	290	0.0034	189	c.294 others(206): Show c.294-6085_294-6084insTACTTTTAAAGTACTTTAAAAGTAAAAG TACTTTAAAAGTAAAGTACTTTTAAAGTACTTTAAAAGTAAAGTACTTTT AAAGTACTTTAAAAGTAAAAGTACTTTTAAAGTACTTTAAAAGTAAAAGT ACTTTTAAAGTACTTTAAAAGTAAAAGTACTTTTAAAGTACTTTAAAAGT AAAAGTACTTT	KLHL6	ENSG00000172578.12	transcript	ENST00000341319.8	protein_coding	1/6			chr3	TogoVar
LAMA5_chr20_62304065_62372312	62360544	T T	TAGGTGGG others(182): Show TAGGTGGGTGGGTAGATATGTAGGGGGGTGGGTGGGTAGGTGGGTGGATA GGTAGGGGGGTGGGTGGGTCAGCAGGCAGAGGGATGGGATAGGATAGGTG GGTGCGTGGGTTGATAGGTAGGGGGTGGGTGGGTGGATAAGTGGGGGGGT GGGGGGTGGGTAGGTGGGTGGGTGCATAGGTAGGAGGGTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG04199.hp1 NA20905.hp2 HG03669.hp2 HG04199.hp1 NA20905.hp2	a0001 a0101 a0001 a0101	a0001c0016 a0101c0044 a0001c0016 a0101c0044	a0001c0016t0001 a0101c0044t0001 a0001c0016t0001 a0101c0044t0001	a0001c0016t0001g0166 a0001c0016t0001g0168 a0101c0044t0001g0167 a0001c0016t0001g0166 a0001c0016t0001g0168 a0101c0044t0001g0167	3	159	0.0189	189	c.450 others(206): Show c.450+1855_450+1856insCACCCTCCTACCTATGCACCCACCCACC TACCCACCCCCCACCCCCCCACTTATCCACCCACCCACCCCCTACCTATC AACCCACGCACCCACCTATCCTATCCCATCCCTCTGCCTGCTGACCCACC CACCCCCCTACCTATCCACCCACCTACCCACCCACCCCCCTACATATCTA CCCACCCACCT	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183149514	T T	TCACACCA others(182): Show TCACACCACACAGCCCACACCCCTCTCCTCACACCACACAGCTCACACCC CTCTCCTCCTCACACCACACAGCCCACACCCCTCTCCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCTC CTGCTCACACACCACACAGCTCACACCCCTGTCCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0024 a0001c0020t0024	a0001c0020t0024g0132 a0001c0020t0024g0132	1	196	0.0051	189	c.67 others(200): Show c.6724_*6725insCACACCACACAGCCCACACCCCTCTCCTCACACC ACACAGCTCACACCCCTCTCCTCCTCACACCACACAGCCCACACCCCTCT CCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACCACACA GCCCACACCCCTCTCCTGCTCACACACCACACAGCTCACACCCCTGTCCT CCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3923		chr1	TogoVar
LHFPL3_chr7_104323603_104913561	104833038	T T	TATATTAT others(182): Show TATATTATATATAATAGATATATTATATATATATTATATATAATAGATAT ATTATATATATATTATATATAATAGATATATTATATATATATATTATATA TAATAGATATATTATATATATCTATTATATATAATAGAGATATATTATAT ATAATAGATATATTATATATATCTATTATATATAATAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0085 a0001c0002t0005g0085	1	44	0.0227	189	c.683 others(208): Show c.683-73145_683-73144insTATATATAATAGATATATTATATATA TATTATATATAATAGATATATTATATATATATTATATATAATAGATATAT TATATATATATATTATATATAATAGATATATTATATATATCTATTATATA TAATAGAGATATATTATATATAATAGATATATTATATATATCTATTATAT ATAATAGAGATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LMF1_chr16_848634_975984	858524	G G	GTGTCACG others(182): Show GTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGT GTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGTC ACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGCAGTGATGTCTCGGGACGGGTGTGCACTGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0002 a0003c0009t0001g0003 a0003c0009t0001g0002 a0003c0009t0001g0003	2	279	0.0072	189	c.153 others(208): Show c.1530-3819_1530-3818insTCAGTGCACACCCGTCCCGAGACATC ACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACT CACACCCGTCCCGTGACATCACTCACACCCGTCCCGTGACACCACTGCAC ACGCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACAC CCGTCCCGTGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRCOL1_chr12_132598151_132615582	132598569	G G	GCCCCGCC others(182): Show GCCCCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCT CCGCGCGCCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCG CCTCCTCTCCGCGCGCCCCCGCCTCTCCGCGCGCCCCTCCTCCTCTCCGC GCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0023 a0003c0003t0004g0023	1	219	0.0046	189	c.48 others(200): Show c.4832_*4833insGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG GGGCGCGCGGAGAGGAGGAGGGGCGCGCGGAGAGGCGGGGGCGCGCGGAG AGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGGGGC GCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG CGGGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4581		chr12	TogoVar
LRCOL1_chr12_132598151_132615582	132598569	G G	GCCCCGCC others(182): Show GCCCCGCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCT CCGCGCGCCCCCTCCTCTCCGCGCGCCCCGCCTCCTCTCCGCGCGCCCCG CCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGCCCCTCCTCCTCTCCGC GCGCCCCCTCCTCTCCGCGCGCCCCCTCCTCTCCGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG03654.hp2 NA20752.hp1 HG00733.hp1 HG03654.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0005 a0001c0001t0001g0041	3	221	0.0136	189	c.48 others(200): Show c.4832_*4833insGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG GGGCGCGCGGAGAGGAGGAGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAG AGGAGGCGGGGCGCGCGGAGAGGAGGCGGGGCGCGCGGAGAGGAGGGGGC GCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGGGGGCGCGCGGAGAGGAGG CGGGG	LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding		4581		chr12	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(182): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCT TTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	378	0.0026	189	c.40 others(200): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAGG AAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGA AAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGGAAAGA AAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAA GTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(182): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	378	0.0026	189	c.40 others(200): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GTAAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(182): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	378	0.0026	189	c.40 others(200): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAGGAAAGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GTAAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTTACTT others(182): Show ACTTACTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTTCCTTCTTT CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0244 a0002c0003t0001g0244	1	378	0.0026	189	c.40 others(200): Show c.4075_*4076insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA GTAAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAD1L1_chr7_1810795_2237945	1929941	C C	CCCCGCTG others(182): Show CCCCGCTGCCACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCC CCGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCC TCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGT CTCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG04228.hp1 NA18940.hp1 others(3): Show HG01255.hp2 HG04228.hp1 NA18940.hp1 NA18969.hp2 NA19043.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0199 others(3): Show a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0003t0001g0042 a0001c0003t0001g0075 a0001c0003t0001g0089	6	253	0.0237	189	c.180 others(208): Show c.1807+6745_1807+6746insACGGGGCGAGGGGACGTGGCAGTGGG GACGGGGCGAGGAGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAG TGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGT GGCAGCGGGGACGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGG ACGTGGCAGCGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(182): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAT TAATATATATATTAATATATATTAATTATATATATTAATTATATATAAAT ATATATTAATTATATATATTAATTATATATATTTATATAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	75	0.0133	189	c.316 others(208): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATATTAATATATATATTAATATATATTAATTA TATATATTAATTATATATAAATATATATTAATTATATATATTAATTATAT ATATTTATATAGT	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(182): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGAGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	87	0.0115	189	c.525 others(206): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCC CCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCC CCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(182): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGG AGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGG GGGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	87	0.0115	189	c.525 others(206): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTC CCCCCTCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCC CCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163894910	T T	TATATACA others(182): Show TATATACATGCATGTGATGCATATATATACATGCATGTGATGCATATATA CATGCATGTGATGCATATATACATGCATGTGATGCATATATGCATGCATG TGATGCATATATGCATGCATGTGATGCATATATGCATGCATGTGATGCAT ATATACATGCATGTGATGCATATATACATGCATGTGATGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03486.hp2 HG02257.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0013g0015 a0001c0002t0003g0016 a0001c0001t0013g0015 a0001c0002t0003g0016	2	76	0.0263	189	c.-38 others(208): Show c.-38-40742_-38-40741insGCATCACATGCATGTATATATGCATC ACATGCATGTATATATGCATCACATGCATGCATATATGCATCACATGCAT GCATATATGCATCACATGCATGCATATATGCATCACATGCATGTATATAT GCATCACATGCATGTATATATGCATCACATGCATGTATATATATGCATCA CATGCATGTATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MGAM_chr7_141990879_142111747	142045578	A A	ATATATAC others(182): Show ATATATACATACAACATATGAATATATAATATATATATTATATATACATA CAATATATGAATATATAATATATATATTATATATACATACAATATATGAA TATATAATATATATTATATATACATATAATATATGAATATATAATATATA TATTATATATACATATAATATATGAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03209.hp2 HG02258.hp2 HG03209.hp2	a0001 a0001	a0001c0006 a0001c0045 a0001c0006 a0001c0045	a0001c0006t0001 a0001c0045t0001 a0001c0006t0001 a0001c0045t0001	a0001c0006t0001g0162 a0001c0045t0001g0064 a0001c0006t0001g0162 a0001c0045t0001g0064	2	306	0.0065	189	c.249 others(208): Show c.2499-2194_2499-2193insCATATGAATATATAATATATATATTA TATATACATACAATATATGAATATATAATATATATATTATATATACATAC AATATATGAATATATAATATATATTATATATACATATAATATATGAATAT ATAATATATATATTATATATACATATAATATATGAATATATAATATATAT TATATACATACAA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAT4C_chr12_85950667_86261391	86110297	T T	TATATATA others(182): Show TATATATATAGTCTATATATATATAGTCTATATATATATAGTCTATATAT ATAGTCTATATATATAGTCTATATATATATAGTCTATATATATATATATA TAGTCTATATATATATAGTCTATATATATAGTCTATATATATAGTCTATA TATATATAGTCTATATATATATAGTCTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0037 a0001c0001t0016g0037	1	161	0.0062	189	c.-56 others(208): Show c.-56-60575_-56-60574insTATATATATATATAGACTATATATAT ATAGACTATATATATATAGACTATATATATAGACTATATATATAGACTAT ATATATATAGACTATATATATATATATATAGACTATATATATATAGACTA TATATATAGACTATATATATAGACTATATATATATAGACTATATATATAT AGACTATATATAT	MGAT4C	ENSG00000182050.14	transcript	ENST00000611864.5	protein_coding	1/4			chr12	TogoVar
MICAL3_chr22_17782649_18029561	17876797	A A	AGTTATGG others(182): Show AGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	176	0.0057	189	c.224 others(208): Show c.2242-4775_2242-4774insCTCCCTAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC CTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCC TAACCTCCATAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876865	G G	GAGAAGTT others(182): Show GAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAG GTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGA TTATGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0074 a0011c0018t0001g0075 a0011c0018t0001g0074 a0011c0018t0001g0075	2	203	0.0099	189	c.224 others(208): Show c.2242-4843_2242-4842insATAACCTCCCTCACCTCCATAACCTC CATAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCATAACTTCC CTAACCTCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAAC CTCCATAACTTCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGGTT others(182): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGG TTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAAGTTAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0032 a0003c0004t0032	a0003c0004t0032g0140 a0003c0004t0032g0140	1	181	0.0055	189	c.224 others(208): Show c.2242-4879_2242-4878insATAACTTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAA CTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876901	G G	GGGAGGTT others(182): Show GGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0008 a0016c0023t0008	a0016c0023t0008g0019 a0016c0023t0008g0019	1	181	0.0055	189	c.224 others(208): Show c.2242-4879_2242-4878insATAACCTCCCTAACCTCCCTAACCTC CATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCC ATAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACCTCCCTAAC CTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876973	T T	TGGAGGTT others(182): Show TGGAGGTTAGAGAAGTTATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAG GTTACGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	249	0.0040	189	c.224 others(208): Show c.2242-4951_2242-4950insCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCC ATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCATAAC TTCTCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877081	T T	TGGAGGTT others(182): Show TGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0015 a0008c0009t0002g0015	1	186	0.0054	189	c.224 others(208): Show c.2242-5059_2242-5058insCTCACCTCCATAACCTCCCTCACCTC CATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC ATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTCACCTCCATAAC CTCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar

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