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
MYH15_chr3_108375368_108515596	108471069	G G	GAGGAAGA others(93): Show GAGGAAGAGAGGGAGGGAGGGAGGAAGGAAGGAAAGAAGGGAGGGAGGGA GGGAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGGAGGGAGGGAGGGAGG A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02055.hp2 HG02257.hp1 others(3): Show HG00735.hp1 HG02055.hp2 HG02257.hp1 HG02647.hp1 HG02717.hp1 HG03453.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0003c0003 a0006c0007	a0003c0003t0003 a0006c0007t0001 a0006c0007t0003 a0003c0003t0003 a0006c0007t0001 a0006c0007t0003	a0003c0003t0003g0112 a0006c0007t0001g0173 a0006c0007t0001g0174 others(3): Show a0003c0003t0003g0112 a0006c0007t0001g0173 a0006c0007t0001g0174 a0006c0007t0003g0108 a0006c0007t0003g0109 a0006c0007t0003g0111	6	231	0.0260	100	c.123 others(117): Show c.1234-223_1234-222insTCCTCCCTCCCTCCCTCCCTTCTTTCCT TCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCTTTCCTTCCTTC CTCCCTCCCTCCCTCTCTTCCT	MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	12/40			chr3	TogoVar
MYH15_chr3_108375368_108515596	108471069	G G	GAGGAAGA others(93): Show GAGGAAGAGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAAGAAGGGAGGGA GGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0058 a0001c0015t0001g0058	1	226	0.0044	100	c.123 others(117): Show c.1234-223_1234-222insTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTC CTCCCTCCCTCCCTCTCTTCCT	MYH15	ENSG00000144821.11	transcript	ENST00000693548.1	protein_coding	12/40			chr3	TogoVar
MYO18B_chr22_25737188_26036045	25945732	G G	GCCTCCCC others(93): Show GCCTCCCCTCGCCTCCCCTCCCCTCCCCTTGCCTCCCCTCCCCTCCCCTC CCCTCCCCTCGCCTCCCCTCCCCTCCCCTCCCCTCGCCTCCCCTCCCCTC C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0026 a0026	a0026c0104 a0026c0104	a0026c0104t0001 a0026c0104t0001	a0026c0104t0001g0103 a0026c0104t0001g0103	1	216	0.0046	100	c.551 others(117): Show c.5518-377_5518-376insTGCCTCCCCTCCCCTCCCCTCCCCTCCC CTCGCCTCCCCTCCCCTCCCCTCCCCTCGCCTCCCCTCCCCTCCCCTCCC CTCGCCTCCCCTCCCCTCCCCT	MYO18B	ENSG00000133454.16	transcript	ENST00000335473.12	protein_coding	34/43		INFO_REALIGN_3_PRIME	chr22	TogoVar
MYO1B_chr2_191240404_191430386	191398264	C C	CCCGGACG others(93): Show CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCACCTCCC TCCCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCT T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG02895.hp1 others(4): Show HG01884.hp2 HG02109.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0017 a0001c0007 a0001c0008 a0001c0017	a0001c0007t0001 a0001c0008t0001 a0001c0017t0001 a0001c0007t0001 a0001c0008t0001 a0001c0017t0001	a0001c0007t0001g0005 a0001c0007t0001g0020 a0001c0007t0001g0074 others(4): Show a0001c0007t0001g0005 a0001c0007t0001g0020 a0001c0007t0001g0074 a0001c0008t0001g0003 a0001c0008t0001g0004 a0001c0008t0001g0099 a0001c0017t0001g0164	7	168	0.0417	100	c.229 others(119): Show c.2295+1786_2295+1787insAGGCGGGGGGCTGACCCCCCCCCACC TCCCTCCCTGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCT CCCTTCCGGACGGGGCGGCTGGCC	MYO1B	ENSG00000128641.19	transcript	ENST00000392318.8	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
MYO1C_chr17_1459186_1497686	1467635	C C	CCCCACCT others(93): Show CCCCACCTCCCCATCCACCTCCTGACCCCCAAATCCACCCCCATCCACCC TCCCACCTCCCCATCCACCTCCTGACCCCCAAATCCACCCCCATCCACCC T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	428	0.0023	100	c.296 others(115): Show c.2968-59_2968-58insAGGGTGGATGGGGGTGGATTTGGGGGTCAG GAGGTGGATGGGGAGGTGGGAGGGTGGATGGGGGTGGATTTGGGGGTCAG GAGGTGGATGGGGAGGTGGG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	29/31			chr17	TogoVar
MYOM2_chr8_2040046_2150456	2086351	T T	TGCGTGGC others(93): Show TGCGTGGCCCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATC TTTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCACTGTCGTGATCTC C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	380	0.0026	100	c.164 others(117): Show c.1644+969_1644+970insCCACTGTCATGATCTCTTTGTGGCCCCC CACTGTTGTGATCTTTGCGTGGCCCCACTGTCATGATCTCTGGCACCCCA CTGTCGTGATCTCCGCGTGGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYT1_chr20_64159452_64247253	64173492	T T	TTAGTTGT others(93): Show TTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0186 a0001c0001t0003g0186	1	207	0.0048	100	c.-99 others(117): Show c.-99+8798_-99+8799insTTTCCTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCC TGACTTCTCCTCCTGCAGCATC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174795	G G	GTAGTTGT others(93): Show GTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCTTCTTTCCCT GTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	222	0.0045	100	c.-99 others(119): Show c.-99+10091_-99+10092insTAGCTTCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64174927	C C	CCTCCTGC others(93): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0115 a0001c0003t0022g0115	1	222	0.0045	100	c.-99 others(119): Show c.-99+10190_-99+10191insCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175277	T T	TCTCCTGT others(93): Show TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCT C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	196	0.0051	100	c.-99 others(119): Show c.-99+10544_-99+10545insTAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATT TCCCCTCCCTGGCTTCTCCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175818	C C	CTGGCTTC others(93): Show CTGGCTTCTCCTGTAGCATCTTTCCCTGTAGTTGTGCCCATTTCCCCTCC CTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCC T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	222	0.0045	100	c.-99 others(119): Show c.-99+11091_-99+11092insTAGCATCTTTCCCTGTAGTTGTGCCC ATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCC ATTTCCCCTCCTTGGCTTCTCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175942	C C	CCTGTAGT others(93): Show CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTC CCTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTGCAGCATCTTTCCCT G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	114	0.0088	100	c.-99 others(119): Show c.-99+11203_-99+11204insCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCC TGGCTTCTGCAGCATCTTTCCCTG	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22			chr20	TogoVar
MYT1_chr20_64159452_64247253	64175974	C C	CCTCCTGC others(93): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0123 a0001c0002t0002g0123	1	222	0.0045	100	c.-99 others(119): Show c.-99+11237_-99+11238insCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176074	C C	CCTGCAGC others(93): Show CCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCT CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0017 a0002c0008t0017	a0002c0008t0017g0135 a0002c0008t0017g0135	1	101	0.0099	100	c.-99 others(119): Show c.-99+11337_-99+11338insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCCTGTAGTTGT GTCCATTTCCCCTCCCTGGCTTCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64176227	C C	CCTCCTGC others(93): Show CCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	49	0.0204	100	c.-99 others(119): Show c.-99+11543_-99+11544insGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTGTAGTTGTGTC CATTTCCCCTCCCTGGCTTCTCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NAA15_chr4_139296505_139396384	139314988	C C	CAGGTTAG others(93): Show CAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGT TAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGT T	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	268	0.0037	100	c.54+ others(117): Show c.54+13159_54+13160insGTTAGGTTAGGTTAGGTTAGGTTAGGTT AGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTTAGGTT AGGTTAGGTTAGGTTAGGTTAG	NAA15	ENSG00000164134.14	transcript	ENST00000296543.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr4	TogoVar
NAALADL2_chr3_174854334_175815548	175013063	A A	ATATATAT others(93): Show ATATATATAAATATGTAATACATATTTATATATAAATATGTAATACATAT TTATATATAAATATGTAATACATATTTATATATAAATATGTAATACATAT T	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18906.hp1 HG00639.hp1 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0002 a0002c0003 a0004c0002	a0002c0003t0001 a0004c0002t0023 a0002c0003t0001 a0004c0002t0023	a0002c0003t0001g0060 a0004c0002t0023g0010 a0002c0003t0001g0060 a0004c0002t0023g0010	2	51	0.0392	100	c.44- others(117): Show c.44-83689_44-83688insGTAATACATATTTATATATAAATATGTA ATACATATTTATATATAAATATGTAATACATATTTATATATAAATATGTA ATACATATTTATATATAAATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158648687	C C	CCAAATGG others(93): Show CCAAATGGACTACAGCCACGGCAAATGGACTACAGCCACGGCAAATGGAC TACAGCCACGGCAAATGGACTACAGCCACGGCAAATGGACTACAGCCACG G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0007 a0007	a0007c0023 a0007c0023	a0007c0023t0001 a0007c0023t0001	a0007c0023t0001g0156 a0007c0023t0001g0156	1	372	0.0027	100	c.307 others(119): Show c.3076-2125_3076-2124insCCGTGGCTGTAGTCCATTTGCCGTGG CTGTAGTCCATTTGCCGTGGCTGTAGTCCATTTGCCGTGGCTGTAGTCCA TTTGCCGTGGCTGTAGTCCATTTG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	24/27			chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504140	A A	ACCCCCCC others(93): Show ACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	86	0.0116	100	c.-41 others(111): Show c.-4198_-4197insCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCAC CCCGGGCTCCACACCCCCCCCCGCCGGTGCCCGGCCTTACCCCTGCACCC CGGGCTCCACACCCCC	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4083		chr22	TogoVar
NCK1_chr3_136857208_136956606	136893196	A A	ACACACAC others(93): Show ACACACACACACACCATATTTTCTTTACCCATTCGTTAATTGATGGACAT TTGGGCTGGTTCCATATTTTTGCAGTTGTGAATTGTGCTGCTGTAAACAT G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03579.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0008 a0001c0001t0015g0007 a0001c0001t0001g0008 a0001c0001t0015g0007	2	91	0.0220	100	c.-19 others(119): Show c.-19+30845_-19+30846insCACACACACACCATATTTTCTTTACC CATTCGTTAATTGATGGACATTTGGGCTGGTTCCATATTTTTGCAGTTGT GAATTGTGCTGCTGTAAACATGCA	NCK1	ENSG00000158092.7	transcript	ENST00000481752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCK2_chr2_105739912_105899272	105807767	T T	TCTCCCTC others(93): Show TCTCCCTCCCTCCCTCCCTTCTCTCCCTCCCTCCCTCCCTTCCCTCTATC CCTCCCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCCCTCTATC C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0328 a0001c0001t0003g0328	1	94	0.0106	100	c.-20 others(119): Show c.-200-8639_-200-8638insCCTCCCTCCCTCCCTTCCCTCTATCC CTCCCTCCCTCCCTCCCTTCTCTCTCTCCCTCCCTCCCTTCCCTCTATCC CTCCCTCCCTCCCTCCCTTCTCTC	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CATATATA others(93): Show CATATATATATACATATATATATGTATGTATATGTATATATATATACGTA TATATATATATATACGTATATATATATATATATATACGTATGTATATATA T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	166	0.0060	100	c.-17 others(119): Show c.-17+18786_-17+18787insCATATATATATGTATGTATATGTATA TATATATACGTATATATATATATATACGTATATATATATATATATATACG TATGTATATATATATATATATATA	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
NCK2_chr2_105739912_105899272	105835388	C C	CGTATATA others(93): Show CGTATATATATGTATATATATATATACGTGTATATATATGTGTATATATA TATATATACGTGTATATATATGTATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp2 HG02257.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0021 a0001c0001t0009g0012 a0001c0001t0001g0021 a0001c0001t0009g0012	2	167	0.0120	100	c.-17 others(119): Show c.-17+18775_-17+18776insGTATATATATGTATATATATATATAC GTGTATATATATGTGTATATATATATATATACGTGTATATATATGTATAT ATATATATATATATATATATATAT	NCK2	ENSG00000071051.14	transcript	ENST00000233154.9	protein_coding	2/4			chr2	TogoVar
NCOA3_chr20_47496887_47661872	47525870	G G	GCGGCTGG others(93): Show GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGGG CGGCTGGCCGGGTGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0027 a0001c0003t0012g0027	1	13	0.0769	100	c.-99 others(119): Show c.-99+23891_-99+23892insTGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCC	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOA3_chr20_47496887_47661872	47525893	A A	ACCCCCCC others(93): Show ACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGTGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0047 a0002c0002t0009g0047	1	313	0.0032	100	c.-99 others(119): Show c.-99+23891_-99+23892insTGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGTCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCC	NCOA3	ENSG00000124151.19	transcript	ENST00000371998.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(93): Show GGGGGTCAGCCCCCCCACCCCGCCAGCCACCCCATCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGG T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01106.hp2 others(17): Show HG00323.hp2 HG00741.hp2 HG01106.hp2 HG01123.hp1 HG01433.hp2 HG02015.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03453.hp2 HG03540.hp1 HG03704.hp1 NA18947.hp2 NA18995.hp2 NA19062.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0003t0003 a0001c0003t0023 a0001c0009t0010	a0001c0001t0003g0269 a0001c0001t0003g0278 a0001c0001t0003g0279 others(17): Show a0001c0001t0003g0269 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0268 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0010g0258 a0001c0001t0017g0272 a0001c0003t0003g0267 a0001c0003t0003g0273 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0023g0266 a0001c0009t0010g0256	20	172	0.1163	100	c.282 others(119): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGTGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(93): Show GGGGGTCAGCCCCCCCACCCCGCCAGCCACCCCATCCGGGAGGGAGGTGT GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGG T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0274 a0001c0003t0003g0274	1	153	0.0065	100	c.282 others(119): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCACACCTCCCTCCCGGATGGGGTGGC TGGCGGGGTGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(93): Show GGGGGTCAGCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTG GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGG T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03540.hp2 HG02886.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0002 a0001c0001t0002 a0001c0004t0002	a0001c0001t0002g0020 a0001c0004t0002g0174 a0001c0001t0002g0020 a0001c0004t0002g0174	2	154	0.0130	100	c.282 others(119): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTGGCT GGCGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(93): Show GGTCAGCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGG T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02080.hp1 NA18986.hp1 others(1): Show HG02040.hp1 HG02080.hp1 NA18986.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0156 a0001c0001t0002g0159 others(1): Show a0001c0001t0002g0051 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160	4	255	0.0157	100	c.282 others(119): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCGGGGGGGGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(93): Show GGTCAGCCCCCCCCCCTCCGCCAGCCACCCCATCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGG T	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18982.hp2 NA19012.hp2 others(1): Show HG00621.hp1 NA18982.hp2 NA19012.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0154 others(1): Show a0001c0001t0002g0149 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155	4	255	0.0157	100	c.282 others(119): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCGGAGGGGGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095670	G G	GGTCAGCC others(93): Show GGTCAGCCCCCCGCCCCCCGCCAGCCACCCCATCCGGGAGGGAGGTGGGG GGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGG T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp1 HG03195.hp1 HG02145.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0001 a0001c0001t0009g0002 a0001c0001t0009g0003	3	254	0.0118	100	c.282 others(119): Show c.2820+2696_2820+2697insACCACCTCCCTCCCGGACGGGGCGGC TGGCTGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGATGGGGTG GCTGGCGGGGGGCGGGGGGCTGAC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR2_chr12_124319415_124572612	124320340	T T	TTAGGGGT others(93): Show TTAGGGGTAGGTGGGATGACCTCTTTGGGGGCAGGTGGGATGACCTCTTT CTTTAGGGGTAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGAA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA19240.hp1 NA19240.hp2 HG02486.hp1 NA19240.hp1 NA19240.hp2	a0001 a0005 a0013 a0001 a0005 a0013	a0001c0091 a0005c0068 a0013c0113 a0001c0091 a0005c0068 a0013c0113	a0001c0091t0001 a0005c0068t0017 a0013c0113t0001 a0001c0091t0001 a0005c0068t0017 a0013c0113t0001	a0001c0091t0001g0144 a0005c0068t0017g0048 a0013c0113t0001g0112 a0001c0091t0001g0144 a0005c0068t0017g0048 a0013c0113t0001g0112	3	212	0.0142	100	c.50 others(111): Show c.5061_*5062insGTTCATCCCACCTACCCCCAAAGAAAGAGGTCAT CCCACCTACCCCTAAAGAAAGAGGTCATCCCACCTGCCCCCAAAGAGGTC ATCCCACCTACCCCTA	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding		4074		chr12	TogoVar
NCR1_chr19_54901148_54918073	54903371	T T	TGTACACA others(93): Show TGTACACATATATGTATGTATACATGCATGCATGTATGTGTACACACATA TGTATGTATACATGCATGCATGTATGTGTACACACATGTATGTATACATG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18986.hp2 NA18999.hp2 HG02165.hp1 NA18986.hp2 NA18999.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0009 a0003c0004t0005 a0003c0004t0009	a0003c0004t0005g0007 a0003c0004t0009g0103 a0003c0004t0009g0106 a0003c0004t0005g0007 a0003c0004t0009g0103 a0003c0004t0009g0106	3	395	0.0076	100	c.-28 others(111): Show c.-2817_-2816insGTACACATATATGTATGTATACATGCATGCATGT ATGTGTACACACATATGTATGTATACATGCATGCATGTATGTGTACACAC ATGTATGTATACATGC	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		2776		chr19	TogoVar
NDUFB4_chr3_120591336_120607507	120597021	A A	AGTTTATA others(93): Show AGTTTATATATATATGCATATATATTATATTCTATATATATGCATATATA GTTTATATATATATGCATATATATTATATTCTATATATATGCATATATAG T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01516.hp2 HG03669.hp1 HG01106.hp2 HG01516.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	3	422	0.0071	100	c.180 others(115): Show c.180+482_180+483insGTTTATATATATATGCATATATATTATATT CTATATATATGCATATATAGTTTATATATATATGCATATATATTATATTC TATATATATGCATATATAGT	NDUFB4	ENSG00000065518.8	transcript	ENST00000184266.3	protein_coding	1/2			chr3	TogoVar
NDUFV3_chr21_42888309_42918299	42894351	A A	AAATATAT others(93): Show AAATATATATATATAATATATATTATATATAAATATATAATATATATTAT ATATATTATATAATATATATAATATATAATATATATTATATATAAATATA T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01069.hp1 others(4): Show HG00099.hp2 HG00140.hp2 HG01069.hp1 HG01175.hp1 HG02451.hp2 HG02965.hp2 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0053 a0002c0002t0058 others(1): Show a0002c0002t0002 a0002c0002t0053 a0002c0002t0058 a0002c0002t0079	a0002c0002t0002g0008 a0002c0002t0002g0158 a0002c0002t0002g0161 others(3): Show a0002c0002t0002g0008 a0002c0002t0002g0158 a0002c0002t0002g0161 a0002c0002t0053g0036 a0002c0002t0058g0157 a0002c0002t0079g0036	7	283	0.0247	100	c.48+ others(113): Show c.48+979_48+980insATATAATATATATTATATATAAATATATAATA TATATTATATATATTATATAATATATATAATATATAATATATATTATATA TAAATATATAATATATAT	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NDUFV3_chr21_42888309_42918299	42894427	A A	AAATATAT others(93): Show AAATATATATTATATAATATATAATATATTATATAAATATATATTATATA ATATATAATATATTATATAATATATATTATATAATATATAATATATTATA T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02486.hp2 HG03139.hp2 HG02257.hp2 HG02486.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0072 a0001c0001t0015 a0001c0001t0072	a0001c0001t0015g0025 a0001c0001t0015g0086 a0001c0001t0072g0025 a0001c0001t0015g0025 a0001c0001t0015g0086 a0001c0001t0072g0025	3	346	0.0087	100	c.48+ others(115): Show c.48+1068_48+1069insATATATTATATAAATATATATTATATAATA TATAATATATTATATAATATATATTATATAATATATAATATATTATATAA TATATATTATATAATATATA	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
NEK10_chr3_27101484_27374383	27282548	A A	ATATATAT others(93): Show ATATATATATACACATAACTGTGTTATATATATATATATATATACATAAC TGTGTTATATATATATACATAACTGTGTTATATATATATACATAACTGTG T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02145.hp1 HG02717.hp1 others(13): Show HG00735.hp2 HG02145.hp1 HG02717.hp1 HG02886.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 NA18522.hp2 NA18963.hp1 NA18981.hp1 NA18984.hp1 NA19066.hp2 NA19083.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0001c0022 a0008c0011 a0001c0002 a0001c0022 a0008c0011	a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0022t0004 a0008c0011t0015	a0001c0002t0001g0076 a0001c0002t0004g0072 a0001c0002t0004g0073 others(13): Show a0001c0002t0001g0076 a0001c0002t0004g0072 a0001c0002t0004g0073 a0001c0002t0004g0077 a0001c0002t0004g0078 a0001c0002t0004g0079 a0001c0002t0004g0085 a0001c0002t0004g0087 a0001c0002t0004g0090 a0001c0002t0004g0092 a0001c0002t0004g0094 a0001c0002t0005g0086 a0001c0002t0005g0089 a0001c0022t0004g0093 a0008c0011t0015g0081 a0008c0011t0015g0082	16	130	0.1231	100	c.201 others(119): Show c.2014+2053_2014+2054insACACAGTTATGTATATATATATAACA CAGTTATGTATATATATATAACACAGTTATGTATATATATATATATATAT AACACAGTTATGTGTATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NEK10_chr3_27101484_27374383	27282548	A A	ATATATAT others(93): Show ATATATATATATATACATAACTGTGTTTTATATATATATATACACATAAC TGTGTTATATATATATACATAACTGTGTTATATATATATACATAACTGTG T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00673.hp2 others(17): Show HG00140.hp2 HG00280.hp1 HG00673.hp2 HG01074.hp1 HG01261.hp1 HG01433.hp1 HG02040.hp2 HG02109.hp1 HG03017.hp1 HG03490.hp2 HG03927.hp2 NA18906.hp2 NA18977.hp2 NA19070.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA20752.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0002 a0002c0003t0016 a0002c0003t0029 others(7): Show a0002c0003t0002 a0002c0003t0016 a0002c0003t0029 a0002c0003t0034 a0002c0003t0035 a0002c0003t0036 a0002c0006t0001 a0002c0006t0004 a0002c0006t0019 a0002c0006t0047	a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0010 others(17): Show a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0017 a0002c0003t0002g0019 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0016g0029 a0002c0003t0029g0074 a0002c0003t0034g0037 a0002c0003t0035g0014 a0002c0003t0036g0022 a0002c0006t0001g0020 a0002c0006t0004g0003 a0002c0006t0004g0008 a0002c0006t0019g0035 a0002c0006t0047g0021	20	134	0.1493	100	c.201 others(119): Show c.2014+2053_2014+2054insACACAGTTATGTATATATATATAACA CAGTTATGTATATATATATAACACAGTTATGTGTATATATATATATAAAA CACAGTTATGTATATATATATATA	NEK10	ENSG00000163491.18	transcript	ENST00000691995.1	protein_coding	22/35			chr3	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(93): Show ACCCCTCCCCCGACCTCCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCT CCCCCGACCTCCCCCTTCCCCCCCGACCTCCCCCCGCCCCCCTCCCCCGG C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0286 a0001c0009t0004g0286	1	81	0.0123	100	c.127 others(117): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCCGCGCCCCGA CCTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTCCCC CCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCCCTCC others(93): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCGACCTCCCCCCCGCCCCCCTCCCCCGG C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0006 a0002c0012t0006	a0002c0012t0006g0045 a0002c0012t0006g0045	1	81	0.0123	100	c.127 others(117): Show c.127+4485_127+4486insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTCCCCC CCGCCCCCCTCCCCCGGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995572	A A	ATACAGTA others(93): Show ATACAGTATGTATACTATATATATACAGTATGTATACTATATATACACAG TATGTATACTATATATATACAGTATATACTATATATATACAGTATGTATA C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01256.hp1 HG01258.hp2 others(6): Show HG00597.hp2 HG01256.hp1 HG01258.hp2 HG02056.hp2 HG02132.hp2 NA18747.hp1 NA18973.hp1 NA18995.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0032 a0001c0003t0002 a0001c0007t0001 a0001c0011t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0251 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0251 a0001c0001t0002g0266 a0001c0001t0007g0255 a0001c0001t0032g0308 a0001c0003t0002g0150 a0001c0007t0001g0252 a0001c0011t0001g0253	9	169	0.0533	100	c.-75 others(119): Show c.-75+17495_-75+17496insGTATACATACTGTATATATATAGTAT ATACTGTATATATATAGTATACATACTGTGTATATATAGTATACATACTG TATATATATAGTATACATACTGTA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NID1_chr1_235970830_236070090	235993468	C C	CGGGGAGG others(93): Show CGGGGAGGAGCGAGGTAAGTGAGAGGGAAGAAGGGTGCAGCAGGAGCGGG TGGGGAGGAGCGGGGTAAGTGAGAGGGAAGAAGGGTGCAGCAGGAGCGGG T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG02896.hp2 others(1): Show HG01255.hp2 HG01261.hp1 HG02896.hp2 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0009 a0001c0006 a0004c0009	a0001c0006t0004 a0004c0009t0004 a0001c0006t0004 a0004c0009t0004	a0001c0006t0004g0231 a0004c0009t0004g0057 a0004c0009t0004g0058 others(1): Show a0001c0006t0004g0231 a0004c0009t0004g0057 a0004c0009t0004g0058 a0004c0009t0004g0059	4	296	0.0135	100	c.275 others(117): Show c.2755+176_2755+177insACCCGCTCCTGCTGCACCCTTCTTCCCT CTCACTTACCCCGCTCCTCCCCACCCGCTCCTGCTGCACCCTTCTTCCCT CTCACTTACCTCGCTCCTCCCC	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	13/19			chr1	TogoVar
NID1_chr1_235970830_236070090	235993468	C C	CGGGGAGG others(93): Show CGGGGAGGAGCGGGGTAAGTGAGAGGGAAGAAGGGTGCAGCAGGAGCGGG TGGGGAGGAGCGGGGTAAGTGAGAGGGAAGAAGGGTGCAGCAGGAGCGGG T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG01243.hp2 others(8): Show HG01106.hp1 HG01109.hp1 HG01243.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp1 HG02970.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0011 a0014 a0038	a0001c0001 a0001c0030 a0002c0002 others(6): Show a0001c0001 a0001c0030 a0002c0002 a0002c0008 a0003c0004 a0004c0005 a0011c0047 a0014c0064 a0038c0036	a0001c0001t0003 a0001c0001t0007 a0001c0030t0003 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0030t0003 a0002c0002t0001 a0002c0008t0001 a0003c0004t0001 a0004c0005t0003 a0011c0047t0003 a0014c0064t0003 a0038c0036t0003	a0001c0001t0003g0288 a0001c0001t0007g0300 a0001c0001t0007g0301 others(8): Show a0001c0001t0003g0288 a0001c0001t0007g0300 a0001c0001t0007g0301 a0001c0030t0003g0246 a0002c0002t0001g0318 a0002c0008t0001g0289 a0003c0004t0001g0089 a0004c0005t0003g0048 a0011c0047t0003g0284 a0014c0064t0003g0320 a0038c0036t0003g0282	11	303	0.0363	100	c.275 others(117): Show c.2755+176_2755+177insACCCGCTCCTGCTGCACCCTTCTTCCCT CTCACTTACCCCGCTCCTCCCCACCCGCTCCTGCTGCACCCTTCTTCCCT CTCACTTACCCCGCTCCTCCCC	NID1	ENSG00000116962.15	transcript	ENST00000264187.7	protein_coding	13/19			chr1	TogoVar
NINJ2_chr12_559296_668445	577430	C C	CATATATA others(93): Show CATATATATATGTATATATATATATACATATATATATGTATATATATATA TATACATATATATATGTATATATATATATATACATATATATATGTATATA T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02074.hp2 HG02083.hp2 others(10): Show HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp1 NA18943.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp1 NA19004.hp1 NA19012.hp2 NA19057.hp1 NA19085.hp2 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0002 a0001c0001 a0005c0002	a0001c0001t0001 a0005c0002t0001 a0001c0001t0001 a0005c0002t0001	a0001c0001t0001g0069 a0001c0001t0001g0140 a0001c0001t0001g0141 others(10): Show a0001c0001t0001g0069 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0185 a0005c0002t0001g0162	13	150	0.0867	100	c.34- others(117): Show c.34-11253_34-11252insATATATACATATATATATGTATATATAT ATATATACATATATATATGTATATATATATATATACATATATATATGTAT ATATATATATACATATATATAT	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NINJ2_chr12_559296_668445	609340	C C	CCACGCTA others(93): Show CCACGCTAGGGGCTGTACGCACGCACGGCGCCACGCGCTAGGTGCTGAAC GCACACGCACGGCGCCACGCGCTAGGGGCTGAACGCACACGCACGGCGCC A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00609.hp2 others(13): Show HG00408.hp2 HG00423.hp2 HG00609.hp2 HG00673.hp2 HG01175.hp2 HG02738.hp2 HG03017.hp1 HG03491.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp1 NA18948.hp1 NA18953.hp1 NA18961.hp2 NA18983.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0078 a0001c0001t0001g0171 a0001c0001t0001g0336 a0001c0001t0002g0016 a0001c0001t0002g0173	16	402	0.0398	100	c.34- others(117): Show c.34-43163_34-43162insTGGCGCCGTGCGTGTGCGTTCAGCCCCT AGCGCGTGGCGCCGTGCGTGTGCGTTCAGCACCTAGCGCGTGGCGCCGTG CGTGCGTACAGCCCCTAGCGTG	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NLGN4X_chrX_5885042_6233867	6049227	A A	AAGGGGAA others(93): Show AAGGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG03492.hp1 NA18960.hp1 others(2): Show HG01070.hp2 HG03492.hp1 NA18960.hp1 NA18969.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0006 a0001c0001t0001 a0001c0003t0006	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0065 a0001c0001t0001g0108 a0001c0003t0006g0037	5	19	0.2632	100	c.473 others(119): Show c.473-19796_473-19795insCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTTCCCCT	NLGN4X	ENSG00000146938.16	transcript	ENST00000381095.8	protein_coding	2/5			chrX	TogoVar
NLRP12_chr19_53788741_53829314	53819543	A A	ATATACAT others(93): Show ATATACATGCGTATATATGTATGTATACGTATATACATGCGTATATATGT ATGTATACGTATATACATGCGTATATATGTATGTATACGTATATATATGC G	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0371 a0001c0001t0001g0371	1	85	0.0118	100	c.289 others(117): Show c.289+4342_289+4343insCGCATATATATACGTATACATACATATA TACGCATGTATATACGTATACATACATATATACGCATGTATATACGTATA CATACATATATACGCATGTATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819543	A A	ATATACAT others(93): Show ATATACATGCGTATATATGTATGTATACGTATATACATGTGTATATATGT ATGTATACGTATATACATGCGTATATATGTATGTATACGTATATACATGC G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0360 a0001c0002t0001g0360	1	85	0.0118	100	c.289 others(117): Show c.289+4342_289+4343insCGCATGTATATACGTATACATACATATA TACGCATGTATATACGTATACATACATATATACACATGTATATACGTATA CATACATATATACGCATGTATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55849944	A A	AATGTCTG others(93): Show AATGTCTGTAGCCGCGGTGTAATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTAATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGTGGTGT G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0219 a0002c0002t0008g0219	1	378	0.0026	100	c.-65 others(117): Show c.-65-2070_-65-2069insGTCTGTAGCCGCGGTGTAATTTCCGAGA CTGCGGTGTGATTTCCGAGACTGCGGTGTAATTTCCGTAGCTGCGGTGTG ATTTCCGTAGCTGTGGTGTGAT	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850024	G G	GATTTCCG others(93): Show GATTTCCGTAGCTGCGGTGGGATTTCCGAGACTGCGGTGGAATTTCCGTG GCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAGGCTGCGGTGT A	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0324 a0001c0006t0002g0324	1	393	0.0025	100	c.-65 others(117): Show c.-65-1985_-65-1984insTAGCTGCGGTGGGATTTCCGAGACTGCG GTGGAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTC CGAGGCTGCGGTGTAATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar

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