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
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	184	0.0054	25	c.48 others(36): Show c.4818_*4819insAAAAAAAAAAAAAATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02559.hp1 HG03654.hp2 others(1): Show HG02004.hp1 HG02559.hp1 HG03654.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0026	4	187	0.0214	25	c.48 others(36): Show c.4818_*4819insAAAAAAAAAATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	184	0.0054	25	c.48 others(36): Show c.4818_*4819insAAAAAATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	184	0.0054	25	c.48 others(36): Show c.4818_*4819insAAAATATATATATATATATATATAT	NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding		4679		chr17	TogoVar
NME8_chr7_37843597_37905397	37848174	A A	AAGAAGAA others(18): Show AAGAAGAAAAGAAGAGGAAGAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02970.hp1 HG02055.hp1 HG02970.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0319 a0003c0003t0002g0322 a0003c0003t0002g0319 a0003c0003t0002g0322	2	322	0.0062	25	c.-79 others(34): Show c.-795_-794insAGAAGAAAAGAAGAGGAAGAGGAAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		422		chr7	TogoVar
NME8_chr7_37843597_37905397	37848199	A A	AGGAGGAG others(18): Show AGGAGGAGGAGGAGGAGGAGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	348	0.0029	25	c.-77 others(34): Show c.-770_-769insGGAGGAGGAGGAGGAGGAGGAGGAG	NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding		397		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00609.hp1 HG02074.hp1 others(15): Show HG00280.hp1 HG00609.hp1 HG02074.hp1 HG02486.hp2 HG03688.hp2 HG03942.hp1 HG03942.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18964.hp2 NA19005.hp1 NA19010.hp1 NA19064.hp2 NA19082.hp2 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0027 a0001c0001t0033 a0001c0001t0041 a0001c0001t0047	a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0096 others(15): Show a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0102 a0001c0001t0002g0226 a0001c0001t0003g0040 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0005g0063 a0001c0001t0006g0069 a0001c0001t0006g0094 a0001c0001t0012g0076 a0001c0001t0017g0095 a0001c0001t0027g0051 a0001c0001t0033g0048 a0001c0001t0041g0054 a0001c0001t0047g0171	18	103	0.1748	25	c.86- others(42): Show c.86-47933_86-47932insTTTTTTTTTTTTTTTTTTTTTTTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMNAT2_chr1_183243237_183423380	183341725	C C	CAAAAAAA others(18): Show CAAAAAAAAAAACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0035 a0001c0001t0045g0035	1	86	0.0116	25	c.86- others(42): Show c.86-47933_86-47932insTTTTTTTTTTTTTGTTTTTTTTTTT	NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10			chr1	TogoVar
NMU_chr4_55590231_55641298	55603927	A A	AAAATATA others(18): Show AAAATATATATATATGTATATATGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	324	0.0031	25	c.435 others(42): Show c.435+1347_435+1348insCACATATATACATATATATATATTT	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding	7/9			chr4	TogoVar
NOB1_chr16_69736871_69759926	69741052	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	33	0.0303	25	c.12 others(36): Show c.1279_*1280insTTTTTTTTTTTTTTTTTTTTTTTTT	NOB1	ENSG00000141101.13	transcript	ENST00000268802.10	protein_coding		818		chr16	TogoVar
NOL4_chr18_33846100_34229913	34024192	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19079.hp2 NA19063.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0023 a0001c0001t0012g0166 a0001c0001t0001g0023 a0001c0001t0012g0166	2	115	0.0174	25	c.773 others(42): Show c.773-4592_773-4591insATATATATATATATATATATATATA	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOL4_chr18_33846100_34229913	34024194	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	35	0.0286	25	c.773 others(42): Show c.773-4594_773-4593insATATATATATATATATATATATATT	NOL4	ENSG00000101746.16	transcript	ENST00000261592.10	protein_coding	5/10			chr18	TogoVar
NOM1_chr7_156944712_156978176	156954522	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0249 a0003c0003t0010g0249	1	119	0.0084	25	c.130 others(42): Show c.1308+244_1308+245insTTTTTTTTTTTTTTTTTTTTTTTTT	NOM1	ENSG00000146909.8	transcript	ENST00000275820.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NOP14_chr4_2932936_2968406	2960764	T T	TATTAATA others(18): Show TATTAATATATTAATATTATAATCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(55): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01981.hp2 HG02055.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02723.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp2 NA18522.hp1 NA18747.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp1 NA18989.hp2 NA19062.hp2 NA19064.hp2 NA19079.hp1 NA19080.hp2 NA20752.hp2 NA21309.hp1	a0002 a0006 a0012 others(1): Show a0002 a0006 a0012 a0021	a0002c0002 a0002c0014 a0002c0020 others(4): Show a0002c0002 a0002c0014 a0002c0020 a0006c0016 a0006c0017 a0012c0007 a0021c0021	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0020 a0002c0014t0012 a0002c0020t0001 a0006c0016t0012 a0006c0017t0001 a0012c0007t0007 a0012c0007t0011 a0021c0021t0001	a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0047 others(44): Show a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0270 a0002c0002t0001g0273 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0302 a0002c0002t0002g0272 a0002c0002t0003g0051 a0002c0002t0003g0261 a0002c0002t0003g0282 a0002c0002t0004g0293 a0002c0002t0005g0264 a0002c0002t0005g0268 a0002c0002t0020g0280 a0002c0014t0012g0281 a0002c0020t0001g0292 a0006c0016t0012g0299 a0006c0017t0001g0301 a0012c0007t0007g0285 a0012c0007t0011g0297 a0021c0021t0001g0274	58	419	0.1384	25	c.195 others(42): Show c.195+2336_195+2360dupGTGATTATAATATTAATATATTAAT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19030.hp2 HG03516.hp1 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0013 a0001c0003t0003 a0001c0003t0013	a0001c0003t0003g0174 a0001c0003t0013g0180 a0001c0003t0003g0174 a0001c0003t0013g0180	2	61	0.0328	25	c.105 others(44): Show c.105+11493_105+11494insATATATATTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATATAT others(18): Show ATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0069 a0001c0001t0021g0069	1	60	0.0167	25	c.105 others(44): Show c.105+11493_105+11494insATATATTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162081774	A A	ATATTTTT others(18): Show ATATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0171 a0001c0004t0003g0171	1	60	0.0167	25	c.105 others(44): Show c.105+11493_105+11494insATTTTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162125130	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0119 a0001c0003t0003g0119	1	145	0.0069	25	c.106 others(44): Show c.106-29254_106-29253insTTTTTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02723.hp1 others(1): Show HG01243.hp1 HG02647.hp1 HG02723.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0014 a0001c0003t0003 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0003t0003 a0001c0007t0008	a0001c0001t0002g0146 a0001c0001t0014g0083 a0001c0003t0003g0084 others(1): Show a0001c0001t0002g0146 a0001c0001t0014g0083 a0001c0003t0003g0084 a0001c0007t0008g0075	4	28	0.1429	25	c.177 others(44): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264468	C C	CTCCTCTC others(18): Show CTCCTCTCCTCTCCTCCCCTCCCCTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01192.hp1 others(3): Show HG00639.hp2 HG01070.hp1 HG01192.hp1 HG01261.hp2 HG03486.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0002 a0001c0003t0003 a0001c0004t0003	a0001c0001t0001g0017 a0001c0001t0001g0059 a0001c0001t0009g0139 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0059 a0001c0001t0009g0139 a0001c0002t0002g0115 a0001c0003t0003g0119 a0001c0004t0003g0058	6	54	0.1111	25	c.178 others(44): Show c.178-22876_178-22875insTCCTCTCCTCTCCTCCCCTCCCCTG	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9			chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162289209	T T	TTCCTTCC others(18): Show TTCCTTCCTTTCCTTCCTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18960.hp1 NA19043.hp2 others(1): Show HG00609.hp2 NA18960.hp1 NA19043.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0002t0029 a0001c0004t0034 a0001c0002t0001 a0001c0002t0029 a0001c0004t0034	a0001c0002t0001g0045 a0001c0002t0001g0112 a0001c0002t0029g0125 others(1): Show a0001c0002t0001g0045 a0001c0002t0001g0112 a0001c0002t0029g0125 a0001c0004t0034g0002	4	125	0.0320	25	c.270 others(42): Show c.270+1774_270+1775insCCTTCCTTTCCTTCCTTCCTTTCCT	NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1_chr12_117203142_117366626	117256284	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA19240.hp1 HG02622.hp2 NA19240.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0093 a0001c0010t0113 a0001c0010t0093 a0001c0010t0113	a0001c0010t0093g0288 a0001c0010t0113g0290 a0001c0010t0093g0288 a0001c0010t0113g0290	2	87	0.0230	25	c.253 others(44): Show c.2531+2112_2531+2113insAAAAAAAAAAAAAAAAAAAAAAAAA	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	16/28			chr12	TogoVar
NOS1_chr12_117203142_117366626	117335756	G G	GAGAGAGA others(18): Show GAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0003 a0007c0018t0003	a0007c0018t0003g0133 a0007c0018t0003g0133	1	292	0.0034	25	c.-42 others(44): Show c.-420-4268_-420-4267insTCTCTCTCTCTCTCTCTCTCTCTCT	NOS1	ENSG00000089250.20	transcript	ENST00000317775.11	protein_coding	1/28			chr12	TogoVar
NOS2_chr17_27751766_27805529	27803120	G G	GAGGAAAG others(18): Show GAGGAAAGGAAAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02027.hp1 NA18944.hp1 others(9): Show HG00423.hp1 HG02027.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18986.hp2 NA18998.hp1 NA19001.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0019t0001	a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0047 others(7): Show a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0235 a0001c0001t0006g0016 a0001c0002t0001g0088 a0001c0019t0001g0113	12	87	0.1379	25	c.-28 others(36): Show c.-2856_-2855insTTCCTTTCCTTTCCTTTCCTTTCCT	NOS2	ENSG00000007171.19	transcript	ENST00000313735.11	protein_coding		2592		chr17	TogoVar
NOSIP_chr19_49550468_49585556	49556087	A A	AAGGGGCA others(18): Show AAGGGGCAGGGCCTTAAAAATAGGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03471.hp2 HG03540.hp1 HG02615.hp2 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0163 a0001c0001t0002g0015 a0001c0001t0002g0163	3	302	0.0099	25	c.834 others(40): Show c.834+229_834+230insGCCCTATTTTTAAGGCCCTGCCCCT	NOSIP	ENSG00000142546.14	transcript	ENST00000596358.6	protein_coding	8/8			chr19	TogoVar
NOSIP_chr19_49550468_49585556	49556094	G G	GGGGCCTT others(18): Show GGGGCCTTAAAAATAGGGAAGGGGCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	236	0.0042	25	c.834 others(40): Show c.834+222_834+223insTGCCCCTTCCCTATTTTTAAGGCCC	NOSIP	ENSG00000142546.14	transcript	ENST00000596358.6	protein_coding	8/8			chr19	TogoVar
NOSIP_chr19_49550468_49585556	49556094	G G	GGGGCCTT others(18): Show GGGGCCTTAAAAATAGGGCAGGGGCA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00642.hp2 others(60): Show HG00408.hp2 HG00423.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG01069.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 NA18747.hp2 NA18906.hp2 NA18954.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp2 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19080.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0017 others(54): Show a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0023 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0002c0003t0002g0159 a0002c0003t0002g0164 a0002c0003t0002g0175 a0002c0003t0002g0178 a0002c0003t0002g0202	63	298	0.2114	25	c.834 others(40): Show c.834+222_834+223insTGCCCCTGCCCTATTTTTAAGGCCC	NOSIP	ENSG00000142546.14	transcript	ENST00000596358.6	protein_coding	8/8			chr19	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146219800	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	1	52	0.0192	25	c.-45 others(42): Show c.-45+8908_-45+8909insATATATATATATATATATATATATA	NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4			chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149419855	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp2 NA20129.hp2 HG01891.hp2 NA19240.hp2 NA20129.hp2	a0003 a0013 a0003 a0013	a0003c0028 a0003c0029 a0013c0027 a0003c0028 a0003c0029 a0013c0027	a0003c0028t0031 a0003c0029t0029 a0013c0027t0030 a0003c0028t0031 a0003c0029t0029 a0013c0027t0030	a0003c0028t0031g0083 a0003c0029t0029g0084 a0013c0027t0030g0082 a0003c0028t0031g0083 a0003c0029t0029g0084 a0013c0027t0030g0082	3	148	0.0203	25	c.136 others(44): Show c.136-11086_136-11085insATATATATATATATATATTTTTTTT	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	40	0.0250	25	c.74- others(42): Show c.74-11073_74-11072insATATATATATATATATATTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA18963.hp2 HG01515.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0099 a0001c0005t0001g0100 a0001c0001t0001g0099 a0001c0005t0001g0100	2	41	0.0488	25	c.74- others(42): Show c.74-11073_74-11072insATATATATATATATATTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120752554	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	40	0.0250	25	c.74- others(42): Show c.74-11073_74-11072insATATATATATATATTTTTTTTTTTT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLR_chr1_120718945_120799851	120753409	A A	AGCCATGT others(18): Show AGCCATGTAGTTGGACTTTATGTTAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	162	0.0062	25	c.74- others(42): Show c.74-10214_74-10213insGTAGTTGGACTTTATGTTAGGCCAT	NOTCH2NLR	ENSG00000286106.3	transcript	ENST00000624419.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	51	0.0196	25	c.74- others(42): Show c.74-11085_74-11084insATATATATATATATATATATATTTT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTCH2_chr1_119906553_120074662	120041071	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	51	0.0196	25	c.74- others(42): Show c.74-11085_74-11084insATATATATATATATATATATATATT	NOTCH2	ENSG00000134250.21	transcript	ENST00000256646.7	protein_coding	1/33			chr1	TogoVar
NOTUM_chr17_81947507_81966187	81952447	A A	AGGAGGAG others(18): Show AGGAGGAGGGGAGGGAGAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02071.hp1 others(2): Show HG00673.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0057 a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0057	5	380	0.0132	25	c.51 others(34): Show c.513_*514insCCTCCTCCTCTCCCTCCCCTCCTCC	NOTUM	ENSG00000185269.12	transcript	ENST00000409678.8	protein_coding		59		chr17	TogoVar
NOX4_chr11_89319353_89496375	89389303	A A	ATTCGTGC others(18): Show ATTCGTGCTTAAAGCTTAGCTTTACC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	286	0.0035	25	c.107 others(46): Show c.1074+10689_1074+10713dupGGTAAAGCTAAGCTTTAAGCACGA A	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	11/17			chr11	TogoVar
NOX5_chr15_69009695_69067762	69045536	T T	TTTTCTTT others(18): Show TTTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	84	0.0119	25	c.164 others(44): Show c.1648-1279_1648-1278insTCTTTCTTTCTTTCTTTCTTTCTTT	NOX5	ENSG00000255346.11	transcript	ENST00000388866.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr15	TogoVar
NOXA1_chr9_137418393_137439406	137428803	G G	GGAGGAGC others(18): Show GGAGGAGCTGGGTGGGGGAACCGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	402	0.0025	25	c.370 others(38): Show c.370-74_370-50dupAGCTGGGTGGGGGAACCGGGAGAGG	NOXA1	ENSG00000188747.9	transcript	ENST00000683555.1	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
NOXRED1_chr14_77389021_77428523	77408892	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG02273.hp1 others(2): Show HG00639.hp1 HG01123.hp1 HG02273.hp1 HG04184.hp1 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0042 others(2): Show a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0042 a0001c0002t0003g0052 a0001c0002t0003g0055	5	22	0.2273	25	c.350 others(42): Show c.350-1248_350-1247insAAAAAAAAAAAAAAAAAAAAAAAAA	NOXRED1	ENSG00000165555.10	transcript	ENST00000380835.7	protein_coding	2/5			chr14	TogoVar
NPAS2_chr2_100815139_101001829	100834128	G G	GTGGCTCA others(18): Show GTGGCTCAGTGCTTCTCTTTCTCTGA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0162 a0001c0004t0002g0162	1	286	0.0035	25	c.-23 others(44): Show c.-23+13717_-23+13741dupGCTCAGTGCTTCTCTTTCTCTGATG	NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	32938524	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03195.hp1 HG03453.hp2 others(1): Show HG02647.hp1 HG03195.hp1 HG03453.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0004 a0001c0001t0043 a0002c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0043 a0002c0002t0001 a0002c0005t0014	a0001c0001t0004g0002 a0001c0001t0043g0092 a0002c0002t0001g0058 others(1): Show a0001c0001t0004g0002 a0001c0001t0043g0092 a0002c0002t0001g0058 a0002c0005t0014g0007	4	65	0.0615	25	c.-79 others(34): Show c.-793_-792insGAGAGAGAGAGAGAGAGAGAGAGAG	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding		354		chr14	TogoVar
NPAS3_chr14_32933879_33809173	33544827	A A	ATATTATA others(18): Show ATATTATATATATATATATAATTATG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG03225.hp1 others(1): Show HG02922.hp2 HG02965.hp2 HG03225.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0002c0005t0046	a0001c0001t0003g0004 a0001c0001t0005g0034 a0001c0001t0022g0036 others(1): Show a0001c0001t0003g0004 a0001c0001t0005g0034 a0001c0001t0022g0036 a0002c0005t0046g0051	4	69	0.0580	25	c.469 others(44): Show c.469-15293_469-15292insATTATATATATATATATAATTATGT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33789583	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19240.hp1 HG03471.hp1 NA19240.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0005 a0002c0004t0009g0063 a0002c0004t0009g0005 a0002c0004t0009g0063	2	18	0.1111	25	c.115 others(44): Show c.1154-4291_1154-4290insTTTTTTTTTTTTTTTTTTTTTTTTT	NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
NPC1L1_chr7_44507535_44546330	44526546	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp2 HG03486.hp2 HG00741.hp2 HG01433.hp2 HG03486.hp2	a0003 a0003	a0003c0009 a0003c0039 a0003c0009 a0003c0039	a0003c0009t0003 a0003c0039t0001 a0003c0009t0003 a0003c0039t0001	a0003c0009t0003g0214 a0003c0009t0003g0215 a0003c0039t0001g0213 a0003c0009t0003g0214 a0003c0009t0003g0215 a0003c0039t0001g0213	3	260	0.0115	25	c.263 others(44): Show c.2638-4305_2638-4304insTTTTTTTTTTTTTTTTTTTTTTTTT	NPC1L1	ENSG00000015520.15	transcript	ENST00000381160.8	protein_coding	10/18			chr7	TogoVar
NPC1_chr18_23526442_23591506	23550479	C C	CTTCTTTT others(18): Show CTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	52	0.0192	25	c.165 others(44): Show c.1654+1147_1654+1148insAAAAAAAAAAAAAAAAAAAAAAGAA	NPC1	ENSG00000141458.13	transcript	ENST00000269228.10	protein_coding	10/24			chr18	TogoVar
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19004.hp2 HG06807.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0215 a0001c0001t0002g0168 a0001c0001t0002g0215	2	117	0.0171	25	c.255 others(42): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTT	NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272244	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG00735.hp1 others(31): Show HG00544.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01256.hp2 HG01258.hp1 HG01433.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03704.hp1 NA18985.hp1 NA19043.hp2 NA19056.hp2 NA19078.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0005 others(8): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0002c0003 a0002c0004 a0002c0007 a0002c0012 a0005c0009 a0007c0013 a0008c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0060 a0001c0001t0072 a0001c0001t0085 a0001c0002t0004 a0001c0002t0006 a0001c0002t0035 a0001c0005t0009 a0001c0010t0002 a0002c0003t0065 a0002c0004t0032 a0002c0007t0056 a0002c0012t0022 a0005c0009t0003 a0007c0013t0024 a0008c0020t0049	a0001c0001t0001g0002 a0001c0001t0002g0048 a0001c0001t0007g0007 others(29): Show a0001c0001t0001g0002 a0001c0001t0002g0048 a0001c0001t0007g0007 a0001c0001t0007g0022 a0001c0001t0009g0052 a0001c0001t0014g0187 a0001c0001t0015g0033 a0001c0001t0015g0153 a0001c0001t0018g0117 a0001c0001t0027g0090 a0001c0001t0028g0207 a0001c0001t0030g0123 a0001c0001t0045g0175 a0001c0001t0046g0096 a0001c0001t0052g0080 a0001c0001t0060g0087 a0001c0001t0072g0213 a0001c0001t0085g0251 a0001c0002t0004g0233 a0001c0002t0006g0006 a0001c0002t0035g0044 a0001c0005t0009g0018 a0001c0005t0009g0056 a0001c0010t0002g0043 a0001c0010t0002g0260 a0002c0003t0065g0179 a0002c0004t0032g0183 a0002c0007t0056g0140 a0002c0012t0022g0084 a0005c0009t0003g0198 a0007c0013t0024g0041 a0008c0020t0049g0100	34	41	0.8293	25	c.8-5 others(38): Show c.8-5854_8-5853insTCTTTCTTTCTTTCTTTCTTTCTTT	NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3			chr10	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0162 a0001c0005t0001g0162	1	32	0.0313	25	c.517 others(42): Show c.517+2357_517+2358insAAAAAAAAAAAAAAATATATATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(18): Show ATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 HG02922.hp2 HG02647.hp2 HG02895.hp2 HG02922.hp2	a0001 a0013 a0001 a0013	a0001c0005 a0013c0021 a0001c0005 a0013c0021	a0001c0005t0001 a0013c0021t0001 a0001c0005t0001 a0013c0021t0001	a0001c0005t0001g0170 a0001c0005t0001g0171 a0013c0021t0001g0202 a0001c0005t0001g0170 a0001c0005t0001g0171 a0013c0021t0001g0202	3	34	0.0882	25	c.517 others(42): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAATATATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar

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