Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
NLRP5_chr19_55994726_56066810	55998714	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02074.hp2 NA18999.hp1 others(3): Show HG00673.hp2 HG02074.hp2 NA18999.hp1 NA19009.hp1 NA19060.hp1 NA19064.hp1	a0006 a0009 a0043 a0006 a0009 a0043	a0006c0005 a0009c0054 a0043c0119 a0006c0005 a0009c0054 a0043c0119	a0006c0005t0002 a0009c0054t0001 a0043c0119t0001 a0006c0005t0002 a0009c0054t0001 a0043c0119t0001	a0006c0005t0002g0295 a0006c0005t0002g0296 a0006c0005t0002g0298 others(3): Show a0006c0005t0002g0295 a0006c0005t0002g0296 a0006c0005t0002g0298 a0006c0005t0002g0299 a0009c0054t0001g0297 a0043c0119t0001g0272	6	396	0.0152	24	c.-10 others(35): Show c.-1012_-1011insTGTGTGTATATATATATATGTGTA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1011		chr19	TogoVar
NLRP5_chr19_55994726_56066810	56010742	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00609.hp2 HG00673.hp2 others(40): Show HG00323.hp1 HG00609.hp2 HG00673.hp2 HG01106.hp1 HG01515.hp2 HG01516.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02809.hp1 HG02922.hp1 HG03516.hp2 HG03927.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18960.hp1 NA18967.hp2 NA18978.hp1 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19009.hp1 NA19055.hp2 NA19056.hp1 NA19065.hp2 NA19074.hp1 NA19085.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0015 a0043	a0001c0001 a0001c0002 a0001c0003 others(29): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0022 a0001c0023 a0001c0042 a0001c0068 a0001c0092 a0001c0121 a0002c0004 a0002c0116 a0003c0118 a0003c0122 a0004c0020 a0004c0055 a0005c0034 a0005c0083 a0006c0005 a0007c0010 a0007c0021 a0007c0073 a0007c0108 a0008c0017 a0008c0037 a0009c0054 a0010c0016 a0010c0027 a0011c0033 a0013c0026 a0015c0044 a0043c0119	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(29): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0022t0001 a0001c0023t0001 a0001c0042t0001 a0001c0068t0001 a0001c0092t0001 a0001c0121t0001 a0002c0004t0002 a0002c0116t0002 a0003c0118t0001 a0003c0122t0001 a0004c0020t0001 a0004c0055t0001 a0005c0034t0001 a0005c0083t0001 a0006c0005t0002 a0007c0010t0001 a0007c0021t0001 a0007c0073t0001 a0007c0108t0001 a0008c0017t0001 a0008c0037t0001 a0009c0054t0001 a0010c0016t0001 a0010c0027t0001 a0011c0033t0001 a0013c0026t0002 a0015c0044t0002 a0043c0119t0001	a0001c0001t0001g0038 a0001c0001t0001g0174 a0001c0002t0001g0158 others(40): Show a0001c0001t0001g0038 a0001c0001t0001g0174 a0001c0002t0001g0158 a0001c0002t0001g0241 a0001c0002t0001g0393 a0001c0003t0001g0161 a0001c0009t0001g0281 a0001c0009t0001g0283 a0001c0009t0001g0286 a0001c0022t0001g0267 a0001c0023t0001g0248 a0001c0042t0001g0021 a0001c0068t0001g0008 a0001c0092t0001g0211 a0001c0121t0001g0290 a0002c0004t0002g0176 a0002c0004t0002g0180 a0002c0116t0002g0330 a0003c0118t0001g0357 a0003c0122t0001g0276 a0004c0020t0001g0285 a0004c0055t0001g0323 a0005c0034t0001g0334 a0005c0034t0001g0337 a0005c0083t0001g0121 a0006c0005t0002g0270 a0006c0005t0002g0284 a0006c0005t0002g0295 a0007c0010t0001g0385 a0007c0021t0001g0279 a0007c0021t0001g0302 a0007c0021t0001g0303 a0007c0073t0001g0218 a0007c0108t0001g0275 a0008c0017t0001g0154 a0008c0037t0001g0009 a0009c0054t0001g0297 a0010c0016t0001g0324 a0010c0027t0001g0185 a0011c0033t0001g0340 a0013c0026t0002g0228 a0015c0044t0002g0188 a0043c0119t0001g0272	43	396	0.1086	24	c.508 others(41): Show c.508+1902_508+1903insAAAAAAAAAAAAAAAAAAAAAAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56013596	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02109.hp1 others(1): Show HG02027.hp1 HG02027.hp2 HG02109.hp1 NA19079.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0009 a0003c0077 a0003c0122 others(1): Show a0001c0009 a0003c0077 a0003c0122 a0004c0055	a0001c0009t0001 a0003c0077t0001 a0003c0122t0001 others(1): Show a0001c0009t0001 a0003c0077t0001 a0003c0122t0001 a0004c0055t0001	a0001c0009t0001g0286 a0003c0077t0001g0379 a0003c0122t0001g0276 others(1): Show a0001c0009t0001g0286 a0003c0077t0001g0379 a0003c0122t0001g0276 a0004c0055t0001g0301	4	396	0.0101	24	c.509 others(41): Show c.509-2125_509-2124insTTTTTTTTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56025386	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0261 a0001c0046t0001g0261	1	396	0.0025	24	c.680 others(41): Show c.680-1508_680-1507insCTCTCTCTCTCTCTCTCTCTCTCT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56030714	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG02109.hp2 HG02886.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0310 a0003c0008t0001g0311 a0003c0008t0001g0310 a0003c0008t0001g0311	2	396	0.0051	24	c.227 others(43): Show c.2277-1879_2277-1878insTTTTTTTTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56046399	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18941.hp2 NA18940.hp2 NA18941.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0292 a0010c0016t0001g0364 a0010c0016t0001g0292 a0010c0016t0001g0364	2	396	0.0051	24	c.295 others(43): Show c.2958-4018_2958-3995dupGTGTGTGTGTGTGTGTGTGTGTGT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55945573	C C	CTTTTCTT others(17): Show CTTTTCTTTTCTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03540.hp2 HG02886.hp2 HG03540.hp2	a0000 a0000	a0000c0017 a0000c0017	a0000c0017t0021 a0000c0017t0022 a0000c0017t0021 a0000c0017t0022	a0000c0017t0021g0177 a0000c0017t0022g0178 a0000c0017t0021g0177 a0000c0017t0022g0178	2	350	0.0057	24	c.-23 others(35): Show c.-2330_-2329insTTTTCTTTTCTTTTTTTTTTTTTT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		2258		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55988440	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0000 a0000	a0000c0003 a0000c0003	a0000c0003t0067 a0000c0003t0067	a0000c0003t0067g0126 a0000c0003t0067g0126	1	350	0.0029	24	c.52 others(33): Show c.528_*529insATATATATATATATATATATATAT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding	10/10	529	INFO_REALIGN_3_PRIME	chr19	TogoVar
NMBR_chr6_142069484_142152122	142125421	C C	CCATATAC others(17): Show CCATATACACATATACATGTGCATG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02280.hp1 HG02486.hp1 others(8): Show HG01256.hp1 HG02280.hp1 HG02486.hp1 HG02647.hp2 HG02965.hp2 HG03139.hp2 HG03486.hp2 HG03704.hp2 HG04184.hp2 NA18522.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0026 a0002c0002t0029	a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0169 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0169 a0001c0001t0003g0081 a0001c0001t0003g0091 a0001c0001t0007g0039 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0026g0185 a0002c0002t0029g0047	11	330	0.0333	24	c.-66 others(45): Show c.-664+21599_-664+21622dupCATGCACATGTATATGTGTATATG	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3			chr6	TogoVar
NME1_chr17_51148559_51167168	51150839	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 NA18988.hp2 HG02559.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	384	0.0052	24	c.-28 others(35): Show c.-2828_-2827insAAAAAAAAAAAAAAAAAAAAAAAA	NME1	ENSG00000239672.8	transcript	ENST00000393196.8	protein_coding		2719		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	24	c.48 others(35): Show c.4818_*4819insAAAAAAAAAAAAAAAAAAATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01169.hp1 HG00280.hp1 HG01168.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	413	0.0073	24	c.48 others(35): Show c.4818_*4819insAAAAAAAAAAAAAAAAATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	24	c.48 others(35): Show c.4818_*4819insAAAAAAAAAAAAAAATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG04204.hp1 HG01109.hp1 HG01361.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009	3	413	0.0073	24	c.48 others(35): Show c.4818_*4819insAAAAAAAAAAATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	413	0.0024	24	c.48 others(35): Show c.4818_*4819insAAAAAAAAATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME7_chr1_169127531_169372797	169350241	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02615.hp2 others(1): Show HG01069.hp1 HG01071.hp1 HG02615.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0262 a0001c0002t0001g0183 a0001c0002t0001g0254 others(1): Show a0001c0001t0001g0262 a0001c0002t0001g0183 a0001c0002t0001g0254 a0001c0002t0001g0255	4	302	0.0133	24	c.3+1 others(39): Show c.3+17466_3+17467insCTTCCTTCCTTCCTTCCTTCCTTC	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169350245	A A	AGAAAGAA others(17): Show AGAAAGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02965.hp1 HG02896.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0143 a0001c0001t0002g0144	2	302	0.0066	24	c.3+1 others(39): Show c.3+17462_3+17463insCTTCCTTCCTTCCTTCCTTCTTTC	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169350245	A A	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp2 HG01081.hp2 others(41): Show HG00639.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01975.hp1 HG01978.hp2 HG02055.hp1 HG02129.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02559.hp1 HG02723.hp1 HG02738.hp2 HG02895.hp2 HG02976.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03710.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18972.hp1 NA18980.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19006.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(39): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0217 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0002t0001g0091	44	302	0.1457	24	c.3+1 others(39): Show c.3+17439_3+17462dupCTTCCTTCCTTCCTTCCTTCCTTC	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 NA18960.hp2 NA18977.hp2 others(1): Show HG02109.hp1 NA18960.hp2 NA18977.hp2 NA19006.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0001 a0001c0004t0001 a0004c0005t0001 a0001c0001t0001 a0001c0004t0001 a0004c0005t0001	a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0004t0001g0110 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0111 a0001c0004t0001g0110 a0004c0005t0001g0083	4	388	0.0103	24	c.-17 others(35): Show c.-1796_-1795insGAAGAAGAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAGG others(17): Show GGAAGAGGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01358.hp2 HG02809.hp2 others(3): Show HG00558.hp2 HG01358.hp2 HG02809.hp2 HG02896.hp1 HG03225.hp2 NA18985.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0005c0014 others(1): Show a0003c0003 a0005c0006 a0005c0014 a0005c0025	a0003c0003t0002 a0005c0006t0002 a0005c0014t0002 others(1): Show a0003c0003t0002 a0005c0006t0002 a0005c0014t0002 a0005c0025t0002	a0003c0003t0002g0322 a0003c0003t0002g0324 a0003c0003t0002g0326 others(3): Show a0003c0003t0002g0322 a0003c0003t0002g0324 a0003c0003t0002g0326 a0005c0006t0002g0024 a0005c0014t0002g0295 a0005c0025t0002g0312	6	388	0.0155	24	c.-17 others(35): Show c.-1796_-1795insGAAGAGGAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847173	G G	GGAAGAGT others(17): Show GGAAGAGTAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA18522.hp2 HG02622.hp1 NA18522.hp2	a0003 a0014 a0003 a0014	a0003c0003 a0014c0033 a0003c0003 a0014c0033	a0003c0003t0008 a0014c0033t0002 a0003c0003t0008 a0014c0033t0002	a0003c0003t0008g0320 a0014c0033t0002g0318 a0003c0003t0008g0320 a0014c0033t0002g0318	2	388	0.0052	24	c.-17 others(35): Show c.-1796_-1795insGAAGAGTAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1423		chr7	TogoVar
NME8_chr7_37843597_37905397	37847185	G G	GGAAGAAG others(17): Show GGAAGAAGAAGAAGAAGAAGAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01261.hp2 others(16): Show HG00544.hp1 HG00735.hp1 HG01261.hp2 HG02155.hp1 HG02647.hp1 HG04115.hp2 NA18612.hp2 NA18954.hp1 NA18962.hp2 NA18974.hp2 NA18979.hp2 NA18984.hp1 NA18988.hp2 NA19004.hp2 NA19010.hp2 NA19057.hp2 NA19072.hp2 NA19081.hp1 NA19091.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0004 a0002c0002 a0002c0008 others(4): Show a0001c0004 a0002c0002 a0002c0008 a0002c0009 a0002c0020 a0007c0017 a0007c0018	a0001c0004t0001 a0002c0002t0001 a0002c0008t0001 others(4): Show a0001c0004t0001 a0002c0002t0001 a0002c0008t0001 a0002c0009t0001 a0002c0020t0001 a0007c0017t0001 a0007c0018t0001	a0001c0004t0001g0223 a0002c0002t0001g0020 a0002c0002t0001g0205 others(13): Show a0001c0004t0001g0223 a0002c0002t0001g0020 a0002c0002t0001g0205 a0002c0002t0001g0208 a0002c0002t0001g0213 a0002c0002t0001g0222 a0002c0002t0001g0238 a0002c0008t0001g0018 a0002c0008t0001g0214 a0002c0008t0001g0273 a0002c0009t0001g0001 a0002c0009t0001g0203 a0002c0009t0001g0234 a0002c0020t0001g0202 a0007c0017t0001g0197 a0007c0018t0001g0204	19	388	0.0490	24	c.-17 others(35): Show c.-1784_-1783insGAAGAAGAAGAAGAAGAAGAAGAA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1411		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00639.hp2 others(2): Show HG00280.hp2 HG00639.hp1 HG00639.hp2 HG02083.hp2 NA19085.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0001 a0001c0004 a0004c0012 others(1): Show a0001c0001 a0001c0004 a0004c0012 a0013c0026	a0001c0001t0004 a0001c0004t0004 a0004c0012t0004 others(1): Show a0001c0001t0004 a0001c0004t0004 a0004c0012t0004 a0013c0026t0004	a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0004t0004g0259 others(2): Show a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0004t0004g0259 a0004c0012t0004g0252 a0013c0026t0004g0251	5	388	0.0129	24	c.-17 others(35): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(17): Show AAGAAGAAGAAGAAGAAGGAGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0122 a0003c0010t0001g0122	1	388	0.0026	24	c.-17 others(35): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGGAGACGG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1376		chr7	TogoVar
NME8_chr7_37843597_37905397	37848336	G G	GAGGAAGA others(17): Show GAGGAAGAAGAAGAAGAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0197 a0007c0017t0001g0197	1	388	0.0026	24	c.-63 others(33): Show c.-633_-632insAGGAAGAAGAAGAAGAAGAAGAAC	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		260		chr7	TogoVar
NME8_chr7_37843597_37905397	37848345	G G	GAAGAACA others(17): Show GAAGAACAAGAAGAACAAGAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0215 a0002c0009t0001g0215	1	388	0.0026	24	c.-62 others(33): Show c.-624_-623insAAGAACAAGAAGAACAAGAAGAAC	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		251		chr7	TogoVar
NME8_chr7_37843597_37905397	37882597	A A	AAGAAAGA others(17): Show AAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	388	0.0026	24	c.995 others(41): Show c.995-1703_995-1702insAAGAAAGAAAGAAAGAAAGAGAGA	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG01070.hp1 others(18): Show HG00423.hp1 HG00438.hp1 HG01070.hp1 HG01261.hp1 HG01346.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp2 HG02148.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG03017.hp1 HG03017.hp2 HG03688.hp1 HG03834.hp2 NA18970.hp2 NA18979.hp2 NA19082.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0034 a0001c0001t0041 a0001c0001t0051 a0001c0001t0063 a0001c0001t0071 a0001c0001t0072	a0001c0001t0001g0035 a0001c0001t0001g0130 a0001c0001t0001g0132 others(18): Show a0001c0001t0001g0035 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0002g0049 a0001c0001t0003g0065 a0001c0001t0004g0178 a0001c0001t0005g0076 a0001c0001t0008g0042 a0001c0001t0010g0011 a0001c0001t0012g0059 a0001c0001t0018g0111 a0001c0001t0019g0191 a0001c0001t0021g0145 a0001c0001t0023g0147 a0001c0001t0024g0099 a0001c0001t0034g0088 a0001c0001t0041g0089 a0001c0001t0051g0081 a0001c0001t0063g0141 a0001c0001t0071g0025 a0001c0001t0072g0010	21	258	0.0814	24	c.86- others(41): Show c.86-47933_86-47932insTTTTTTTTTTTTTTTTTTTTTTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18948.hp2 NA18943.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0100 a0001c0001t0013g0090 a0001c0001t0006g0100 a0001c0001t0013g0090	2	258	0.0078	24	c.86- others(41): Show c.86-47933_86-47932insTTTTGTTTTTTTTTTTTTTTTTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183364655	A A	ATTTCTTT others(17): Show ATTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG02055.hp2 others(16): Show HG00735.hp2 HG01109.hp2 HG02055.hp2 HG02148.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03453.hp2 HG04199.hp2 NA18906.hp2 NA18948.hp1 NA19005.hp1 NA19007.hp2 NA19012.hp1 NA19064.hp2 NA19086.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0030 a0001c0001t0067 a0001c0001t0073 a0001c0001t0074 a0001c0001t0079 a0001c0003t0015	a0001c0001t0001g0036 a0001c0001t0003g0032 a0001c0001t0003g0064 others(16): Show a0001c0001t0001g0036 a0001c0001t0003g0032 a0001c0001t0003g0064 a0001c0001t0005g0104 a0001c0001t0005g0112 a0001c0001t0009g0078 a0001c0001t0010g0011 a0001c0001t0012g0080 a0001c0001t0013g0067 a0001c0001t0016g0175 a0001c0001t0016g0256 a0001c0001t0017g0176 a0001c0001t0022g0240 a0001c0001t0030g0169 a0001c0001t0067g0123 a0001c0001t0073g0033 a0001c0001t0074g0102 a0001c0001t0079g0177 a0001c0003t0015g0224	19	258	0.0736	24	c.85+ others(41): Show c.85+53527_85+53528insGAAAGAAAGAAAGAAAGAAAGAAA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139615417	T T	TTCTATCT others(17): Show TTCTATCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02523.hp1 NA19054.hp1 HG02080.hp2 HG02523.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0161 a0001c0001t0001g0219 a0001c0001t0001g0233	3	322	0.0093	24	c.109 others(43): Show c.109+12175_109+12198dupTAGATAGATAGATAGATAGATAGA	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6			chr3	TogoVar
NMNAT3_chr3_139555191_139682972	139675135	T T	TACACACA others(17): Show TACACACACACACACAAACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00642.hp2 others(38): Show HG00099.hp1 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG01123.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02055.hp2 HG02148.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02735.hp1 HG02809.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG04204.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp2 NA18957.hp2 NA18964.hp1 NA18972.hp1 NA18973.hp2 NA18980.hp1 NA18986.hp2 NA18992.hp2 NA18998.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0003t0002 a0001c0001t0002 a0001c0001t0004 a0001c0003t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 others(38): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0003t0002g0061 a0001c0003t0002g0090 a0001c0003t0002g0091	41	322	0.1273	24	c.-17 others(43): Show c.-178+2569_-178+2570insGTGTGTGTTTGTGTGTGTGTGTGT	NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	1/6			chr3	TogoVar
NMRK1_chr9_75055577_75093155	75067349	G G	GTGTATGT others(17): Show GTGTATGTTTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG01243.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0121 a0001c0001t0006g0078 a0001c0001t0006g0121	2	418	0.0048	24	c.497 others(39): Show c.497-510_497-509insTACACACACACACACAAACATACA	NMRK1	ENSG00000106733.21	transcript	ENST00000361092.9	protein_coding	7/8			chr9	TogoVar
NMT1_chr17_45056317_45114016	45091187	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18994.hp1 NA18947.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0086 a0001c0002t0001g0087	2	386	0.0052	24	c.386 others(41): Show c.386-2471_386-2448dupACACACACACACACACACACACAC	NMT1	ENSG00000136448.13	transcript	ENST00000258960.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
NMT2_chr10_15100770_15173693	15159396	A A	ATATTTAT others(17): Show ATATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02155.hp2 NA18963.hp1 HG00558.hp1 HG02155.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0025 a0001c0001t0001g0247 a0001c0001t0002g0036 a0001c0001t0001g0025 a0001c0001t0001g0247 a0001c0001t0002g0036	3	276	0.0109	24	c.110 others(41): Show c.110+9083_110+9106dupAATAAATAAATAAATAAATAAATA	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	1/11			chr10	TogoVar
NMT2_chr10_15100770_15173693	15168747	T T	TCCCGCCC others(17): Show TCCCGCCCTCCGTCCCGCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	276	0.0036	24	c.-13 others(33): Show c.-136_-135insGAGGGGGGCGGGACGGAGGGCGGG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding		55		chr10	TogoVar
NMT2_chr10_15100770_15173693	15168782	T T	TCCCGCCC others(17): Show TCCCGCCCCCTCCCCGCCCTCCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(187): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0054 a0001c0002t0002 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014 a0001c0002t0018 a0001c0002t0031 a0001c0003t0001 a0001c0003t0008 a0001c0005t0003 a0001c0005t0010 a0001c0009t0055	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0025 others(187): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0173 a0001c0001t0002g0229 a0001c0001t0003g0061 a0001c0001t0003g0152 a0001c0001t0003g0176 a0001c0001t0003g0233 a0001c0001t0004g0002 a0001c0001t0004g0269 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0207 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0257 a0001c0001t0006g0048 a0001c0001t0006g0081 a0001c0001t0007g0156 a0001c0001t0007g0198 a0001c0001t0007g0223 a0001c0001t0007g0255 a0001c0001t0007g0260 a0001c0001t0007g0262 a0001c0001t0007g0264 a0001c0001t0008g0147 a0001c0001t0008g0189 a0001c0001t0008g0246 a0001c0001t0009g0003 a0001c0001t0009g0046 a0001c0001t0009g0066 a0001c0001t0009g0097 a0001c0001t0009g0168 a0001c0001t0009g0202 a0001c0001t0012g0077 a0001c0001t0012g0078 a0001c0001t0012g0079 a0001c0001t0012g0275 a0001c0001t0017g0228 a0001c0001t0017g0258 a0001c0001t0021g0263 a0001c0001t0023g0001 a0001c0001t0024g0074 a0001c0001t0026g0100 a0001c0001t0030g0082 a0001c0001t0036g0243 a0001c0001t0037g0179 a0001c0001t0038g0183 a0001c0001t0039g0021 a0001c0001t0041g0044 a0001c0001t0042g0225 a0001c0001t0043g0160 a0001c0001t0046g0154 a0001c0001t0047g0197 a0001c0001t0049g0206 a0001c0001t0050g0239 a0001c0001t0051g0232 a0001c0001t0053g0006 a0001c0001t0054g0235 a0001c0002t0002g0142 a0001c0002t0002g0238 a0001c0002t0005g0143 a0001c0002t0010g0090 a0001c0002t0010g0126 a0001c0002t0014g0073 a0001c0002t0018g0268 a0001c0002t0018g0271 a0001c0002t0031g0270 a0001c0003t0001g0145 a0001c0003t0008g0146 a0001c0003t0008g0150 a0001c0003t0008g0248 a0001c0005t0003g0125 a0001c0005t0003g0129 a0001c0005t0010g0045 a0001c0009t0055g0022	190	276	0.6884	24	c.-17 others(33): Show c.-171_-170insGACGGAGGGCGGGGAGGGGGCGGG	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding		90		chr10	TogoVar
NOCT_chr4_139010781_139050939	139044003	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0196 a0001c0003t0004g0196	1	384	0.0026	24	c.461 others(39): Show c.461-635_461-634insTATATATATATATATATATATACA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOD2_chr16_50688606_50738075	50693465	C C	CGCTGCGG others(17): Show CGCTGCGGGGCTGCGGGGCTGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02622.hp2 others(14): Show HG02145.hp1 HG02257.hp1 HG02622.hp2 HG02717.hp1 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18956.hp2 NA18967.hp1 NA19030.hp1 NA19091.hp2 NA19240.hp1	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0007 a0009c0014	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0004c0007t0002 a0009c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0041 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0113 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0182 a0001c0002t0002g0032 a0001c0002t0002g0112 a0001c0004t0002g0125 a0004c0007t0002g0183 a0009c0014t0002g0033	17	312	0.0545	24	c.-20 others(33): Show c.-206_-205insGCTGCGGGGCTGCGGGGCTGCGGG	NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding		140		chr16	TogoVar
NOL10_chr2_10565754_10694975	10587098	C C	CACATATA others(17): Show CACATATATATACATACACATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	372	0.0027	24	c.184 others(43): Show c.1844+1944_1844+1945insATATATGTGTATGTATATATATGT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10595144	C C	CAGAGAGA others(17): Show CAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	372	0.0027	24	c.142 others(43): Show c.1423-5417_1423-5394dupCTCTCTCTCTCTCTCTCTCTCTCT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	17/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10607750	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp1 others(22): Show HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG01256.hp2 HG02015.hp2 HG02080.hp2 HG02451.hp1 HG02602.hp1 NA18939.hp2 NA18943.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp1 NA18968.hp2 NA18975.hp2 NA18988.hp2 NA18992.hp2 NA18995.hp2 NA19002.hp1 NA19064.hp1 NA19065.hp1 NA19081.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0010 a0001c0002t0002 a0001c0002t0010	a0001c0002t0002g0160 a0001c0002t0002g0170 a0001c0002t0002g0171 others(22): Show a0001c0002t0002g0160 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0232 a0001c0002t0002g0235 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0285 a0001c0002t0010g0001	25	372	0.0672	24	c.102 others(41): Show c.1027-463_1027-440dupTAATAATAATAATAATAATAATAA	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	13/20			chr2	TogoVar
NOL4L_chr20_32438059_32590333	32481519	G G	GCGTCTTC others(17): Show GCGTCTTCTCAGCTGGGAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0011 a0001c0001t0042g0011	1	196	0.0051	24	c.700 others(41): Show c.700-6801_700-6778dupGCCTTCCTCCCAGCTGAGAAGACG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32485058	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02280.hp2 HG01255.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0175 a0001c0001t0001g0110 a0001c0001t0001g0175	2	196	0.0102	24	c.700 others(43): Show c.700-10340_700-10317dupTTTTTTTTTTTTTTTTTTTTTTTT	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01175.hp1 others(4): Show HG00642.hp1 HG00735.hp1 HG01175.hp1 HG02717.hp2 NA18948.hp2 NA18982.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0049 a0001c0006t0041	a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0154 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0002g0030 a0001c0001t0004g0106 a0001c0001t0049g0160 a0001c0006t0041g0105	7	196	0.0357	24	c.321 others(41): Show c.321+6431_321+6432insCTCCTTCCTTCCTTCCTTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 NA20300.hp2 others(2): Show HG00733.hp1 HG00741.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0026	a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0003g0094 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0003g0094 a0001c0001t0005g0173 a0001c0001t0026g0006	5	196	0.0255	24	c.321 others(41): Show c.321+6431_321+6432insCTCCCTCCTTCCTTCCTTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAAGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0060 a0001c0001t0013g0060	1	196	0.0051	24	c.321 others(41): Show c.321+6431_321+6432insCTCCCTCCCTCCTTCCTTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32578138	A A	AGGAAGGA others(17): Show AGGAAGGAAGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	196	0.0051	24	c.321 others(41): Show c.321+6431_321+6432insCTCCCTCCCTCCCTCCTTCCTTCC	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4L_chr20_32438059_32590333	32584133	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0193 a0001c0004t0012g0193	1	196	0.0051	24	c.321 others(39): Show c.321+413_321+436dupTGTGTGTGTGTGTGTGTGTGTGTG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	1/10			chr20	TogoVar
NOL4_chr18_33846100_34229913	34024192	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	168	0.0060	24	c.773 others(41): Show c.773-4592_773-4591insATATATATATATATATATATATAT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar

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