Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NLRC3_chr16_3534033_3582403	3569394	A A	ATATATAT others(10): Show ATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02922.hp1 HG02486.hp1 HG02922.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0374 a0005c0006t0010g0379 a0005c0006t0010g0374 a0005c0006t0010g0379	2	396	0.0051	17	c.-16 others(36): Show c.-168-2071_-168-2070insAAAAAAAAAAATATATA	NLRC3	ENSG00000167984.18	transcript	ENST00000359128.10	protein_coding	1/19			chr16	TogoVar
NLRC4_chr2_32219453_32269886	32233349	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0166 a0001c0003t0001g0166	1	394	0.0025	17	c.278 others(36): Show c.2782+2051_2782+2052insATATATATATATATATA	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	8/8			chr2	TogoVar
NLRC4_chr2_32219453_32269886	32233350	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03579.hp2 HG03209.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0314 a0001c0003t0001g0164 a0001c0001t0001g0314 a0001c0003t0001g0164	2	394	0.0051	17	c.278 others(36): Show c.2782+2050_2782+2051insTATATATATATATATAT	NLRC4	ENSG00000091106.19	transcript	ENST00000402280.6	protein_coding	8/8			chr2	TogoVar
NLRC5_chr16_56984557_57088520	57078466	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0112 a0008c0112	a0008c0112t0001 a0008c0112t0001	a0008c0112t0001g0310 a0008c0112t0001g0310	1	424	0.0024	17	c.508 others(34): Show c.5081+454_5081+470dupTTTTTTTTTTTTTTTTT	NLRC5	ENSG00000140853.17	transcript	ENST00000688547.1	protein_coding	43/48		INFO_REALIGN_3_PRIME	chr16	TogoVar
NLRP10_chr11_7952537_7970447	7962231	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0057 a0001c0001t0006g0057	1	451	0.0022	17	c.290 others(32): Show c.290-926_290-910dupAAAAAAAAAAAAAAAAA	NLRP10	ENSG00000182261.5	transcript	ENST00000691676.1	protein_coding	2/2			chr11	TogoVar
NLRP11_chr19_55780399_55836999	55830598	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0046 a0001c0004t0001g0046	1	444	0.0023	17	c.-63 others(34): Show c.-63+1348_-63+1364dupTTTTTTTTTTTTTTTTT	NLRP11	ENSG00000179873.14	transcript	ENST00000589093.6	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55913548	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01346.hp1 others(14): Show HG00558.hp2 HG00597.hp1 HG01346.hp1 HG02055.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp1 NA18612.hp2 NA18950.hp2 NA18960.hp2 NA19011.hp2 NA19088.hp2 NA19240.hp1 NA21309.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0021 a0004c0018 a0004c0033 a0007c0059	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0021t0001 a0004c0018t0001 a0004c0033t0001 a0007c0059t0001	a0001c0001t0001g0249 a0001c0001t0001g0325 a0001c0002t0001g0099 others(14): Show a0001c0001t0001g0249 a0001c0001t0001g0325 a0001c0002t0001g0099 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0314 a0001c0002t0001g0316 a0001c0002t0001g0322 a0001c0002t0001g0330 a0001c0002t0001g0335 a0001c0002t0001g0358 a0001c0004t0001g0245 a0001c0004t0001g0324 a0001c0021t0001g0082 a0004c0018t0001g0289 a0004c0033t0001g0028 a0007c0059t0001g0417	17	440	0.0386	17	c.524 others(32): Show c.524-272_524-256dupTTTTTTTTTTTTTTTTT	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	4/10			chr19	TogoVar
NLRP2B_chrX_57672067_57685260	57676791	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02622.hp2 HG01243.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	2	340	0.0059	17	c.33 others(28): Show c.3331_*3332insAAAAAAAAAAAAAAAAA	NLRP2B	ENSG00000215174.2	transcript	ENST00000434992.1	protein_coding		275		chrX	TogoVar
NLRP2B_chrX_57672067_57685260	57682131	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	340	0.0029	17	c.-18 others(28): Show c.-1872_-1871insAAAAAAAAAAAAAAAAA	NLRP2B	ENSG00000215174.2	transcript	ENST00000434992.1	protein_coding		1872		chrX	TogoVar
NLRP2_chr19_54961374_55006138	54968701	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp1 others(38): Show HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01175.hp1 HG01175.hp2 HG01516.hp2 HG01517.hp2 HG02074.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02273.hp1 HG02602.hp2 HG02683.hp1 HG02738.hp2 HG03017.hp2 HG03486.hp2 HG03516.hp1 HG03831.hp2 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18979.hp1 NA18982.hp1 NA18992.hp1 NA18993.hp2 NA18994.hp1 NA19010.hp2 NA19030.hp2 NA19062.hp1 NA19063.hp2 NA19077.hp2 NA19085.hp2 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0010 a0016 a0032	a0001c0001 a0001c0008 a0002c0009 others(8): Show a0001c0001 a0001c0008 a0002c0009 a0002c0012 a0002c0038 a0003c0018 a0003c0043 a0004c0007 a0010c0017 a0016c0032 a0032c0041	a0001c0001t0002 a0001c0008t0002 a0002c0009t0004 others(10): Show a0001c0001t0002 a0001c0008t0002 a0002c0009t0004 a0002c0012t0002 a0002c0012t0004 a0002c0012t0005 a0002c0038t0005 a0003c0018t0002 a0003c0043t0002 a0004c0007t0003 a0010c0017t0002 a0016c0032t0002 a0032c0041t0002	a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 others(38): Show a0001c0001t0002g0123 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0159 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0352 a0001c0008t0002g0070 a0001c0008t0002g0128 a0001c0008t0002g0351 a0002c0009t0004g0026 a0002c0009t0004g0208 a0002c0012t0002g0132 a0002c0012t0004g0124 a0002c0012t0005g0198 a0002c0038t0005g0142 a0003c0018t0002g0140 a0003c0018t0002g0146 a0003c0043t0002g0201 a0004c0007t0003g0020 a0010c0017t0002g0125 a0016c0032t0002g0164 a0016c0032t0002g0165 a0032c0041t0002g0130	41	429	0.0956	17	c.-17 others(34): Show c.-17-1286_-17-1285insTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54975106	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0416 a0003c0006t0001g0416	1	429	0.0023	17	c.325 others(32): Show c.325+583_325+599dupTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54976810	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03654.hp1 NA18941.hp2 HG00735.hp2 HG03654.hp1 NA18941.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0011 a0002c0003 a0005c0011	a0002c0003t0003 a0005c0011t0001 a0002c0003t0003 a0005c0011t0001	a0002c0003t0003g0244 a0002c0003t0003g0400 a0005c0011t0001g0387 a0002c0003t0003g0244 a0002c0003t0003g0400 a0005c0011t0001g0387	3	429	0.0070	17	c.326 others(32): Show c.326-941_326-940insTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54984329	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	429	0.0023	17	c.203 others(34): Show c.2030+608_2030+624dupTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54995187	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02896.hp2 HG02970.hp2 HG02004.hp2 HG02896.hp2 HG02970.hp2	a0019 a0023 a0024 a0019 a0023 a0024	a0019c0064 a0023c0049 a0024c0067 a0019c0064 a0023c0049 a0024c0067	a0019c0064t0016 a0023c0049t0016 a0024c0067t0015 a0019c0064t0016 a0023c0049t0016 a0024c0067t0015	a0019c0064t0016g0276 a0023c0049t0016g0002 a0024c0067t0015g0376 a0019c0064t0016g0276 a0023c0049t0016g0002 a0024c0067t0015g0376	3	429	0.0070	17	c.287 others(34): Show c.2879+754_2879+770dupTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	54996037	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19030.hp1 HG02109.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0019 a0001c0004 a0002c0019	a0001c0004t0008 a0002c0019t0008 a0001c0004t0008 a0002c0019t0008	a0001c0004t0008g0031 a0002c0019t0008g0032 a0001c0004t0008g0031 a0002c0019t0008g0032	2	429	0.0047	17	c.288 others(36): Show c.2880-1264_2880-1263insAAAAAAAAAAAAAAAAA	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP2_chr19_54961374_55006138	55000270	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0219 a0001c0004t0001g0219	1	429	0.0023	17	c.305 others(34): Show c.3051-467_3051-451dupTTTTTTTTTTTTTTTTT	NLRP2	ENSG00000022556.16	transcript	ENST00000448584.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850267	T T	TCCCGAGG others(10): Show TCCCGAGGCGGTGTAATG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0082 a0003c0008t0001g0082	1	424	0.0024	17	c.-65 others(34): Show c.-65-1749_-65-1748insCCCGAGGCGGTGTAATG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850487	T T	TCCCGAGG others(10): Show TCCCGAGGCGGTGTAATG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(10): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG02083.hp1 HG02683.hp2 NA18944.hp1 NA18963.hp2 NA18999.hp2 NA19011.hp2 NA19081.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0010	a0001c0001 a0001c0011 a0002c0003 others(4): Show a0001c0001 a0001c0011 a0002c0003 a0003c0007 a0004c0013 a0008c0027 a0010c0034	a0001c0001t0018 a0001c0011t0001 a0001c0011t0004 others(7): Show a0001c0001t0018 a0001c0011t0001 a0001c0011t0004 a0001c0011t0012 a0002c0003t0001 a0003c0007t0001 a0003c0007t0002 a0004c0013t0001 a0008c0027t0002 a0010c0034t0001	a0001c0001t0018g0367 a0001c0011t0001g0083 a0001c0011t0004g0031 others(9): Show a0001c0001t0018g0367 a0001c0011t0001g0083 a0001c0011t0004g0031 a0001c0011t0012g0300 a0002c0003t0001g0176 a0003c0007t0001g0145 a0003c0007t0001g0177 a0003c0007t0002g0006 a0004c0013t0001g0046 a0008c0027t0002g0251 a0008c0027t0002g0278 a0010c0034t0001g0052	13	424	0.0307	17	c.-65 others(34): Show c.-65-1529_-65-1528insCCCGAGGCGGTGTAATG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9			chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850788	C C	CCCGAGGC others(10): Show CCCGAGGCGGTGTAATGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18963.hp2 NA18980.hp2 others(2): Show HG02083.hp1 NA18963.hp2 NA18980.hp2 NA18999.hp2 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0007 a0001c0001 a0001c0011 a0003c0007	a0001c0001t0002 a0001c0011t0001 a0001c0011t0012 others(1): Show a0001c0001t0002 a0001c0011t0001 a0001c0011t0012 a0003c0007t0002	a0001c0001t0002g0272 a0001c0011t0001g0083 a0001c0011t0012g0300 others(1): Show a0001c0001t0002g0272 a0001c0011t0001g0083 a0001c0011t0012g0300 a0003c0007t0002g0006	5	424	0.0118	17	c.-65 others(34): Show c.-65-1221_-65-1220insGGTGTAATGTCCGAGGC	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56009339	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp2 HG01346.hp2 others(6): Show HG00639.hp1 HG01261.hp2 HG01346.hp2 HG02922.hp1 HG03491.hp1 NA18967.hp2 NA18988.hp2 NA19012.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0010	a0001c0001 a0001c0002 a0001c0022 others(6): Show a0001c0001 a0001c0002 a0001c0022 a0001c0046 a0002c0112 a0003c0045 a0003c0111 a0007c0108 a0010c0016	a0001c0001t0001 a0001c0002t0001 a0001c0022t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0022t0001 a0001c0046t0001 a0002c0112t0002 a0003c0045t0001 a0003c0111t0001 a0007c0108t0001 a0010c0016t0001	a0001c0001t0001g0264 a0001c0002t0001g0108 a0001c0022t0001g0267 others(6): Show a0001c0001t0001g0264 a0001c0002t0001g0108 a0001c0022t0001g0267 a0001c0046t0001g0262 a0002c0112t0002g0271 a0003c0045t0001g0266 a0003c0111t0001g0291 a0007c0108t0001g0275 a0010c0016t0001g0324	9	396	0.0227	17	c.508 others(32): Show c.508+490_508+506dupAAAAAAAAAAAAAAAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56010742	C C	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0355 a0006c0005t0002g0355	1	396	0.0025	17	c.508 others(34): Show c.508+1889_508+1890insCAAAAAAAAAAAAAAAA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14			chr19	TogoVar
NLRP5_chr19_55994726_56066810	56013596	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02257.hp2 HG02630.hp1 HG02074.hp1 HG02257.hp2 HG02630.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0004 a0003c0008 a0009c0013 a0002c0004 a0003c0008 a0009c0013	a0002c0004t0002 a0003c0008t0003 a0009c0013t0001 a0002c0004t0002 a0003c0008t0003 a0009c0013t0001	a0002c0004t0002g0183 a0003c0008t0003g0381 a0009c0013t0001g0351 a0002c0004t0002g0183 a0003c0008t0003g0381 a0009c0013t0001g0351	3	396	0.0076	17	c.509 others(34): Show c.509-2141_509-2125dupTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56030714	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01261.hp2 HG02074.hp2 others(24): Show HG00673.hp1 HG01261.hp2 HG02074.hp2 HG02083.hp1 HG02165.hp2 HG02965.hp2 HG03139.hp1 HG03453.hp1 HG03834.hp2 HG03942.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18969.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18998.hp2 NA19009.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp1 NA19084.hp1	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0012 a0039 a0042	a0001c0046 a0003c0114 a0004c0020 others(15): Show a0001c0046 a0003c0114 a0004c0020 a0004c0125 a0005c0029 a0005c0095 a0006c0005 a0006c0011 a0006c0128 a0007c0010 a0007c0021 a0007c0072 a0009c0054 a0009c0094 a0010c0016 a0012c0065 a0039c0061 a0042c0074	a0001c0046t0001 a0003c0114t0002 a0004c0020t0001 others(15): Show a0001c0046t0001 a0003c0114t0002 a0004c0020t0001 a0004c0125t0001 a0005c0029t0001 a0005c0095t0001 a0006c0005t0002 a0006c0011t0002 a0006c0128t0002 a0007c0010t0001 a0007c0021t0001 a0007c0072t0001 a0009c0054t0001 a0009c0094t0001 a0010c0016t0001 a0012c0065t0002 a0039c0061t0001 a0042c0074t0002	a0001c0046t0001g0262 a0003c0114t0002g0347 a0004c0020t0001g0105 others(24): Show a0001c0046t0001g0262 a0003c0114t0002g0347 a0004c0020t0001g0105 a0004c0125t0001g0013 a0005c0029t0001g0085 a0005c0095t0001g0209 a0006c0005t0002g0295 a0006c0005t0002g0300 a0006c0005t0002g0304 a0006c0011t0002g0186 a0006c0011t0002g0205 a0006c0011t0002g0225 a0006c0128t0002g0339 a0007c0010t0001g0321 a0007c0021t0001g0302 a0007c0021t0001g0305 a0007c0021t0001g0348 a0007c0072t0001g0233 a0009c0054t0001g0297 a0009c0054t0001g0326 a0009c0094t0001g0208 a0010c0016t0001g0292 a0010c0016t0001g0324 a0010c0016t0001g0375 a0012c0065t0002g0005 a0039c0061t0001g0256 a0042c0074t0002g0322	27	396	0.0682	17	c.227 others(36): Show c.2277-1895_2277-1879dupTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP5_chr19_55994726_56066810	56036058	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01346.hp1 HG02004.hp1 others(3): Show HG01243.hp2 HG01346.hp1 HG02004.hp1 HG02257.hp1 HG02976.hp2 HG03041.hp2	a0004 a0006 a0007 a0004 a0006 a0007	a0004c0007 a0004c0020 a0004c0050 others(2): Show a0004c0007 a0004c0020 a0004c0050 a0006c0005 a0007c0032	a0004c0007t0001 a0004c0020t0001 a0004c0050t0001 others(2): Show a0004c0007t0001 a0004c0020t0001 a0004c0050t0001 a0006c0005t0002 a0007c0032t0001	a0004c0007t0001g0307 a0004c0020t0001g0096 a0004c0050t0001g0329 others(3): Show a0004c0007t0001g0307 a0004c0020t0001g0096 a0004c0050t0001g0329 a0006c0005t0002g0355 a0007c0032t0001g0017 a0007c0032t0001g0327	6	396	0.0152	17	c.261 others(36): Show c.2616-1961_2616-1945dupTTTTTTTTTTTTTTTTT	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55945573	C C	CTTTTCTT others(10): Show CTTTTCTTTTCTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01433.hp2 HG02056.hp2 others(14): Show HG01361.hp1 HG01433.hp2 HG02056.hp2 HG02071.hp1 HG02148.hp1 HG02293.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18940.hp2 NA18945.hp1 NA18949.hp2 NA18978.hp2 NA18981.hp2 NA19057.hp2 NA19086.hp1 NA20129.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0008 a0009 a0035 a0042	a0001c0001 a0001c0008 a0002c0003 others(6): Show a0001c0001 a0001c0008 a0002c0003 a0002c0011 a0005c0014 a0008c0015 a0009c0010 a0035c0045 a0042c0046	a0001c0001t0007 a0001c0008t0001 a0002c0003t0001 others(10): Show a0001c0001t0007 a0001c0008t0001 a0002c0003t0001 a0002c0003t0003 a0002c0003t0025 a0002c0003t0043 a0002c0003t0062 a0002c0011t0042 a0005c0014t0039 a0008c0015t0012 a0009c0010t0006 a0035c0045t0004 a0042c0046t0006	a0001c0001t0007g0087 a0001c0001t0007g0264 a0001c0008t0001g0271 others(14): Show a0001c0001t0007g0087 a0001c0001t0007g0264 a0001c0008t0001g0271 a0002c0003t0001g0002 a0002c0003t0001g0289 a0002c0003t0001g0327 a0002c0003t0003g0002 a0002c0003t0025g0276 a0002c0003t0043g0259 a0002c0003t0062g0256 a0002c0011t0042g0299 a0005c0014t0039g0180 a0008c0015t0012g0244 a0009c0010t0006g0003 a0009c0010t0006g0022 a0035c0045t0004g0301 a0042c0046t0006g0260	17	350	0.0486	17	c.-23 others(28): Show c.-2330_-2329insTTTTCTTTTCTTTTTTT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		2258		chr19	TogoVar
NMBR_chr6_142069484_142152122	142079126	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA19086.hp1 NA19240.hp2 HG03710.hp2 NA19086.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0040 a0001c0001t0007g0049 a0001c0001t0009g0125 a0001c0001t0007g0040 a0001c0001t0007g0049 a0001c0001t0009g0125	3	330	0.0091	17	c.423 others(32): Show c.423-224_423-223insTCTTTCTTTCTTTCTTT	NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	2/3			chr6	TogoVar
NMD3_chr3_161216311_161257307	161240526	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0191 a0002c0004t0008g0191	1	398	0.0025	17	c.754 others(32): Show c.754-504_754-503insTTTTTTTTTTTTTTTTT	NMD3	ENSG00000169251.13	transcript	ENST00000351193.7	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
NME2_chr17_51161411_51176744	51176397	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	413	0.0024	17	c.47 others(28): Show c.4793_*4794insAAAAAAAAAAAAAAAAA	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4654		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	413	0.0024	17	c.48 others(28): Show c.4818_*4819insAAAAAAAAAAAAAAAAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA20300.hp2 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	413	0.0048	17	c.48 others(28): Show c.4818_*4819insAAAAAAAATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME5_chr5_138110175_138144428	138122441	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01168.hp2 others(9): Show HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG02622.hp1 HG02970.hp2 HG02976.hp2 NA19043.hp2 NA19063.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0165 others(5): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0210 a0001c0001t0001g0275	12	388	0.0309	17	c.437 others(34): Show c.437-3522_437-3506dupTTTTTTTTTTTTTTTTT	NME5	ENSG00000112981.5	transcript	ENST00000265191.4	protein_coding	4/5			chr5	TogoVar
NME5_chr5_138110175_138144428	138144100	A A	AGACCACG others(10): Show AGACCACGAACCCAACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(155): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19068.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19090.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274	158	388	0.4072	17	c.-47 others(28): Show c.-4736_-4735insCCGTTGGGTTCGTGGTC	NME5	ENSG00000112981.5	transcript	ENST00000265191.4	protein_coding		4673		chr5	TogoVar
NME7_chr1_169127531_169372797	169333512	A A	ATCAAAAG others(10): Show ATCAAAAGGATAAATGCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(20): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG01099.hp1 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG02004.hp1 HG02257.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG02970.hp2 HG03927.hp1 HG06807.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0278 a0001c0002t0001g0279 others(20): Show a0001c0002t0001g0145 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300	23	302	0.0762	17	c.4-9 others(30): Show c.4-9029_4-9013dupAGCATTTATCCTTTTGA	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME7_chr1_169127531_169372797	169364516	G G	GGTCACAT others(10): Show GGTCACATATGCCTCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	302	0.0033	17	c.3+3 others(30): Show c.3+3191_3+3192insGAAGAGGCATATGTGAC	NME7	ENSG00000143156.14	transcript	ENST00000367811.8	protein_coding	1/11			chr1	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(10): Show AAGAAGAAGAAGAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0039 a0001c0007t0001g0039	1	388	0.0026	17	c.-17 others(28): Show c.-1749_-1748insAGAAGAAGAAGAAGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		1376		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19012.hp2 NA19086.hp2 NA18983.hp1 NA19012.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0022	3	258	0.0116	17	c.86- others(34): Show c.86-47949_86-47933dupTTTTTTTTTTTTTTTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183341742	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02486.hp1 others(3): Show HG01891.hp1 HG02258.hp2 HG02486.hp1 HG02970.hp2 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 a0001c0001t0025 a0001c0002t0003	a0001c0001t0002g0199 a0001c0001t0011g0015 a0001c0001t0016g0256 others(3): Show a0001c0001t0002g0199 a0001c0001t0011g0015 a0001c0001t0016g0256 a0001c0001t0025g0014 a0001c0001t0025g0016 a0001c0002t0003g0114	6	258	0.0233	17	c.86- others(34): Show c.86-47950_86-47949insGTTTTTTTTTTTTTTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183379092	A A	ATCTATAT others(10): Show ATCTATATCTATATCTAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02074.hp2 HG02109.hp1 others(1): Show HG00140.hp2 HG02074.hp2 HG02109.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0078 others(1): Show a0001c0001t0004 a0001c0001t0016 a0001c0001t0078 a0001c0001t0091	a0001c0001t0004g0054 a0001c0001t0016g0253 a0001c0001t0078g0043 others(1): Show a0001c0001t0004g0054 a0001c0001t0016g0253 a0001c0001t0078g0043 a0001c0001t0091g0257	4	258	0.0155	17	c.85+ others(34): Show c.85+39090_85+39091insATAGATATAGATATAGA	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMRK2_chr19_3928069_3947416	3930020	C C	CCCAACTG others(10): Show CCCAACTGGCCTCAGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	404	0.0025	17	c.-33 others(28): Show c.-3373_-3372insCCAACTGGCCTCAGCCT	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding		3048		chr19	TogoVar
NMT2_chr10_15100770_15173693	15113463	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02886.hp1 others(2): Show HG02055.hp1 HG02451.hp2 HG02886.hp1 HG02886.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0026 a0001c0002t0013 a0001c0001t0005 a0001c0001t0026 a0001c0002t0013	a0001c0001t0005g0005 a0001c0001t0005g0205 a0001c0001t0005g0257 others(2): Show a0001c0001t0005g0005 a0001c0001t0005g0205 a0001c0001t0005g0257 a0001c0001t0026g0100 a0001c0002t0013g0099	5	276	0.0181	17	c.117 others(34): Show c.1171-517_1171-501dupTTTTTTTTTTTTTTTTT	NMT2	ENSG00000152465.18	transcript	ENST00000378165.9	protein_coding	9/11			chr10	TogoVar
NMUR2_chr5_152386546_152410279	152407805	T T	TTATATTA others(10): Show TTATATTATATTATATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	17	c.-27 others(28): Show c.-2709_-2693dupTAATATAATATAATATA	NMUR2	ENSG00000132911.5	transcript	ENST00000255262.4	protein_coding		2527		chr5	TogoVar
NMU_chr4_55590231_55641298	55593359	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0256 a0001c0002t0001g0256	1	412	0.0024	17	c.20 others(28): Show c.2056_*2057insTTTTTTTTTTTTTTTTT	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding		1871		chr4	TogoVar
NOC4L_chr12_132139457_132157468	132157462	C C	CTATGCAC others(10): Show CTATGCACACACTACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(133): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18950.hp1 NA18951.hp1 NA18956.hp1 NA18966.hp1 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18991.hp2 NA18995.hp1 NA18998.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19083.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0017 a0019 a0021	a0001c0001 a0001c0003 a0001c0004 others(22): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0015 a0001c0027 a0001c0048 a0002c0002 a0002c0016 a0002c0043 a0003c0035 a0003c0036 a0003c0037 a0003c0038 a0003c0040 a0004c0050 a0005c0046 a0006c0042 a0010c0047 a0011c0024 a0017c0033 a0019c0019 a0021c0018	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(23): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0015t0001 a0001c0027t0001 a0001c0048t0001 a0002c0002t0001 a0002c0002t0003 a0002c0016t0001 a0002c0043t0001 a0003c0035t0001 a0003c0036t0001 a0003c0037t0001 a0003c0038t0001 a0003c0040t0001 a0004c0050t0001 a0005c0046t0001 a0006c0042t0001 a0010c0047t0001 a0011c0024t0001 a0017c0033t0001 a0019c0019t0001 a0021c0018t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0003t0001g0073 a0001c0003t0001g0171 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0004t0001g0007 a0001c0004t0001g0049 a0001c0004t0001g0051 a0001c0004t0001g0052 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0282 a0001c0005t0001g0202 a0001c0005t0001g0203 a0001c0005t0001g0205 a0001c0005t0001g0206 a0001c0005t0001g0215 a0001c0006t0001g0246 a0001c0007t0001g0192 a0001c0007t0001g0193 a0001c0007t0001g0195 a0001c0015t0001g0058 a0001c0027t0001g0075 a0001c0048t0001g0194 a0002c0002t0001g0006 a0002c0002t0001g0039 a0002c0002t0001g0042 a0002c0002t0001g0083 a0002c0002t0001g0092 a0002c0002t0001g0199 a0002c0002t0003g0186 a0002c0016t0001g0191 a0002c0043t0001g0041 a0003c0035t0001g0269 a0003c0036t0001g0287 a0003c0037t0001g0063 a0003c0038t0001g0068 a0003c0040t0001g0291 a0004c0050t0001g0253 a0005c0046t0001g0040 a0006c0042t0001g0080 a0010c0047t0001g0196 a0011c0024t0001g0072 a0017c0033t0001g0016 a0019c0019t0001g0071 a0021c0018t0001g0149	136	294	0.4626	17	c.50 others(28): Show c.5061_*5062insTATGCACACACTACACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		4995		chr12	TogoVar
NOCT_chr4_139010781_139050939	139039170	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02155.hp2 HG02523.hp1 others(16): Show HG00423.hp1 HG02155.hp2 HG02523.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03195.hp2 HG03471.hp2 NA18979.hp1 NA18993.hp1 NA19004.hp2 NA19005.hp1 NA19030.hp1 NA19083.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0002c0002t0007 others(2): Show a0001c0001t0004 a0001c0001t0007 a0002c0002t0007 a0002c0002t0018 a0002c0002t0020	a0001c0001t0004g0014 a0001c0001t0004g0092 a0001c0001t0004g0101 others(13): Show a0001c0001t0004g0014 a0001c0001t0004g0092 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0116 a0001c0001t0007g0157 a0001c0001t0007g0158 a0002c0002t0007g0031 a0002c0002t0007g0130 a0002c0002t0007g0155 a0002c0002t0007g0207 a0002c0002t0007g0236 a0002c0002t0007g0293 a0002c0002t0007g0296 a0002c0002t0018g0153 a0002c0002t0020g0124	19	384	0.0495	17	c.191 others(34): Show c.191-3903_191-3887dupAAAAAAAAAAAAAAAAA	NOCT	ENSG00000151014.6	transcript	ENST00000280614.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
NOD2_chr16_50688606_50738075	50693486	C C	CGGGGCTG others(10): Show CGGGGCTGCGGGGCTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	312	0.0032	17	c.-18 others(26): Show c.-185_-184insGGGGCTGCGGGGCTGCG	NOD2	ENSG00000167207.15	transcript	ENST00000647318.2	protein_coding		119		chr16	TogoVar
NOL10_chr2_10565754_10694975	10587275	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0345 a0001c0002t0002g0345	1	372	0.0027	17	c.184 others(36): Show c.1844+1767_1844+1768insAAATATATATATATATA	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587275	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA19030.hp2 HG01167.hp2 HG01169.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0165 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0165 a0001c0002t0002g0273 a0001c0002t0002g0274	3	372	0.0081	17	c.184 others(36): Show c.1844+1767_1844+1768insAAAAATATATATATATA	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587275	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	372	0.0027	17	c.184 others(36): Show c.1844+1767_1844+1768insAAAAAAATATATATATA	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10690415	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 NA18939.hp1 NA18999.hp1 others(2): Show HG01516.hp2 NA18939.hp1 NA18999.hp1 NA19056.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0129 a0002c0003t0003g0139 a0002c0003t0003g0148 others(2): Show a0002c0003t0003g0129 a0002c0003t0003g0139 a0002c0003t0003g0148 a0002c0003t0003g0153 a0002c0003t0003g0155	5	372	0.0134	17	c.-55 others(26): Show c.-555_-554insTTTTTTTTTTTTTTTTT	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding		441		chr2	TogoVar
NOL12_chr22_37681343_37698474	37689478	G G	GCACTAAG others(10): Show GCACTAAGACACAGACCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	424	0.0024	17	c.381 others(32): Show c.381+493_381+494insACACAGACCCCACTAAG	NOL12	ENSG00000273899.5	transcript	ENST00000359114.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results