Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NLRP13_chr19_55890945_55937336	55930874	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp1 NA20905.hp2 HG02258.hp2 HG03098.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0001 a0003c0006t0001 a0001c0002t0001 a0003c0006t0001	a0001c0002t0001g0252 a0001c0002t0001g0280 a0003c0006t0001g0367 a0001c0002t0001g0252 a0001c0002t0001g0280 a0003c0006t0001g0367	3	313	0.0096	48	c.319 others(65): Show c.319+1118_319+1119insTATATATATATATATATATATATATATA TATATATATATATATATAAA		NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10						chr19	TogoVar
NMBR_chr6_142069484_142152122	142125421	C C	CCATATAC others(41): Show CCATATACACATATACATGTGCATGCATATACACATATACATGTGCATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02129.hp1 HG02572.hp1 others(10): Show HG01433.hp1 HG02129.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02965.hp1 HG03139.hp1 HG03209.hp2 HG03710.hp1 HG03710.hp2 NA18989.hp2 NA19086.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0005 a0001c0001 a0001c0008 a0005c0005	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0008t0007 a0005c0005t0007	a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0007g0039 others(10): Show a0001c0001t0004g0073 a0001c0001t0004g0077 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0045 a0001c0001t0007g0047 a0001c0001t0007g0051 a0001c0001t0008g0038 a0001c0001t0016g0037 a0001c0008t0007g0044 a0005c0005t0007g0046	13	231	0.0563	48	c.-66 others(69): Show c.-664+21575_-664+21622dupCATGCACATGTATATGTGTATATG CATGCACATGTATATGTGTATATG		NMBR	ENSG00000135577.5	transcript	ENST00000258042.2	protein_coding	1/3						chr6	TogoVar
NME2_chr17_51161411_51176744	51176422	A A	AAAAAAAA others(41): Show AAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	184	0.0054	48	c.48 others(59): Show c.4818_*4819insAAAAAAAAAAATATATATATATATATATATATAT ATATATATATATAT		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding					4679		chr17	TogoVar
NME8_chr7_37843597_37905397	37847220	A A	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAGACGGAGGAGACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0001 a0009c0031t0001	a0009c0031t0001g0130 a0009c0031t0001g0130	1	346	0.0029	48	c.-17 others(59): Show c.-1749_-1748insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA GACGGAGGAGACGG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					1376		chr7	TogoVar
NMNAT2_chr1_183243237_183423380	183364655	A A	ATTTCTTT others(41): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0254 a0001c0001t0004g0254	1	139	0.0072	48	c.85+ others(65): Show c.85+53527_85+53528insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA		NMNAT2	ENSG00000157064.11	transcript	ENST00000287713.7	protein_coding	1/10						chr1	TogoVar
NMNAT3_chr3_139555191_139682972	139580236	T T	TCTCAGCT others(41): Show TCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG01496.hp2 others(11): Show HG01175.hp1 HG01243.hp2 HG01496.hp2 HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 others(10): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0002g0041 a0001c0001t0002g0057 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0194 a0001c0002t0002g0001 a0001c0002t0002g0042 a0001c0002t0002g0043	14	320	0.0438	48	c.110 others(65): Show c.110-1182_110-1181insGCAGGAGAATTGCTTGAACCCAGGAGGT GGAGGTTGCAGTGAGCTGAG		NMNAT3	ENSG00000163864.18	transcript	ENST00000704800.1	protein_coding	4/6						chr3	TogoVar
NOB1_chr16_69736871_69759926	69738632	A A	ATGTATGT others(41): Show ATGTATGTATGTATGTATGTATGTATGTATGTATGTAAGAGTCTCGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	443	0.0023	48	c.36 others(59): Show c.3699_*3700insCAGCGAGACTCTTACATACATACATACATACATA CATACATACATACA		NOB1	ENSG00000141101.13	transcript	ENST00000268802.10	protein_coding					3238		chr16	TogoVar
NOC2L_chr1_939203_964256	939398	G G	GCCTCCCC others(41): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02647.hp1 others(6): Show HG01192.hp1 HG01891.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03486.hp1 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0023 a0001c0001 a0001c0002 a0001c0023	a0001c0001t0001 a0001c0002t0001 a0001c0023t0004 a0001c0001t0001 a0001c0002t0001 a0001c0023t0004	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0002t0001g0154 a0001c0023t0004g0068	9	384	0.0234	48	c.52 others(59): Show c.5248_*5295dupTGATGAGGGGGATCATGCCAGGGTGGGTCCTCAC CGTGGCTGGGGAGG		NOC2L	ENSG00000188976.11	transcript	ENST00000327044.7	protein_coding					4804		chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162217267	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0023 a0001c0002t0002g0023	1	25	0.0400	48	c.177 others(67): Show c.177+62805_177+62806insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162261539	A A	AGAGAGAG others(41): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0149 a0001c0003t0003g0149	1	96	0.0104	48	c.178 others(67): Show c.178-25798_178-25797insAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAAGAGAGGAGAGAG		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
NOS1AP_chr1_162064691_162375475	162264469	C C	CTCTCCTC others(41): Show CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG03209.hp1 others(1): Show HG02055.hp1 HG02896.hp2 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0011 a0001c0003t0010 a0001c0004t0003 others(1): Show a0001c0001t0011 a0001c0003t0010 a0001c0004t0003 a0001c0005t0007	a0001c0001t0011g0003 a0001c0003t0010g0078 a0001c0004t0003g0130 others(1): Show a0001c0001t0011g0003 a0001c0003t0010g0078 a0001c0004t0003g0130 a0001c0005t0007g0073	4	14	0.2857	48	c.178 others(67): Show c.178-22875_178-22874insTCTCCTCTCCTCTCCTCTCCTCTCCT CTCCTCTCCTCCCCTCCCCTGT		NOS1AP	ENSG00000198929.13	transcript	ENST00000361897.10	protein_coding	2/9						chr1	TogoVar
NOTCH1_chr9_136489433_136551048	136535545	C C	CGGGGGCA others(41): Show CGGGGGCAATGGGTGCAGGGTAGGCGGGGAGCACTCAGGATCCCTCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0005 a0005	a0005c0050 a0005c0050	a0005c0050t0023 a0005c0050t0023	a0005c0050t0023g0134 a0005c0050t0023g0134	1	256	0.0039	48	c.140 others(65): Show c.140+8478_140+8479insTGGGAGGGATCCTGAGTGCTCCCCGCCT ACCCTGCACCCATTGCCCCC		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535804	C C	CCTGGGGC others(41): Show CCTGGGGCAATGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0121 a0001c0006t0002g0121	1	317	0.0032	48	c.140 others(65): Show c.140+8219_140+8220insAGGGATCCTGAGTGCTCCCCCCCACCCA CCATGCACCCATTGCCCCAG		NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33						chr9	TogoVar
NOTCH2NLA_chr1_146143865_146234021	146200438	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0014 a0001c0001t0026g0014	1	21	0.0476	48	c.-44 others(67): Show c.-44-11058_-44-11057insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTT		NOTCH2NLA	ENSG00000264343.7	transcript	ENST00000362074.8	protein_coding	1/4						chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390802	A A	AGGCGGCG others(41): Show AGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18969.hp1 NA18969.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0003 a0024c0037t0003	a0024c0037t0003g0162 a0024c0037t0003g0162	1	39	0.0256	48	c.44_ others(53): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGCGG	p.Gly others(59): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOTCH2NLC_chr1_149385621_149476833	149390829	C C	CGGCGGCG others(41): Show CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0018 a0004c0004t0055 a0004c0004t0003 a0004c0004t0018 a0004c0004t0055	a0004c0004t0003g0004 a0004c0004t0018g0004 a0004c0004t0055g0140 a0004c0004t0003g0004 a0004c0004t0018g0004 a0004c0004t0055g0140	3	246	0.0122	48	c.44_ others(53): Show c.44_45insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGC GGCGGAGG	p.Gly others(59): Show p.Gly15_Gly16insGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyG lyGlyGlyGlyGly	NOTCH2NLC	ENSG00000286219.2	transcript	ENST00000650865.2	protein_coding	1/5	212/8729	45/882	15/293		INFO_REALIGN_3_PRIME	chr1	TogoVar
NOX1_chrX_100838324_100879359	100853332	C C	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	106	0.0094	48	c.805 others(65): Show c.805-2008_805-2007insAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAA		NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12						chrX	TogoVar
NPAS2_chr2_100815139_101001829	100938569	C C	CCCCCCTT others(41): Show CCCCCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02922.hp2 HG02145.hp2 HG02922.hp1 HG02922.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0005 a0006c0019 a0001c0001 a0002c0005 a0006c0019	a0001c0001t0001 a0002c0005t0002 a0006c0019t0012 a0001c0001t0001 a0002c0005t0002 a0006c0019t0012	a0001c0001t0001g0152 a0002c0005t0002g0151 a0006c0019t0012g0237 a0001c0001t0001g0152 a0002c0005t0002g0151 a0006c0019t0012g0237	3	89	0.0337	48	c.363 others(63): Show c.363+756_363+757insCTCCCTCCTTCCCTCCCTTCCCCCTTTCCT CCCTCCCTCCCTCCCTCC		NPAS2	ENSG00000170485.17	transcript	ENST00000335681.10	protein_coding	5/20					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPAS3_chr14_32933879_33809173	33301306	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0008 a0001c0001t0010g0008	1	46	0.0217	48	c.386 others(67): Show c.386-65863_386-65862insATATATATATATATATATATATATAT ATATATATATATATATATATAT		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0059	1	21	0.0476	48	c.386 others(67): Show c.386-58658_386-58657insTATATATATATATATATATATATATA TATATATATACACACACACACA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPAS3_chr14_32933879_33809173	33308527	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0049 a0001c0003t0058g0049	1	21	0.0476	48	c.386 others(67): Show c.386-58658_386-58657insTATATATATATATATATATATATATA TATATATATATATATACACACA		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NPBWR2_chr20_64098802_64112565	64105607	T T	TGATGGGG others(41): Show TGATGGGGGTGATGATGGGGGTGGGGGTGGGGGTGGGGGTGATGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp2 NA18947.hp1 NA18948.hp1 others(1): Show HG00673.hp2 NA18947.hp1 NA18948.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	144	0.0278	48	c.22 others(57): Show c.222_*223insCCCACCATCACCCCCACCCCCACCCCCACCCCCATC ATCACCCCCATC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				222		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105607	T T	TGATGGGG others(41): Show TGATGGGGGTGATGATGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	141	0.0071	48	c.22 others(57): Show c.222_*223insCCCACCATCACCCCCACCCCCACCACCACCCCCATC ATCACCCCCATC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				222		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105607	T T	TGATGGGG others(41): Show TGATGGGGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG01943.hp2 others(24): Show HG00558.hp1 HG00597.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 NA18943.hp2 NA18946.hp1 NA18950.hp2 NA18957.hp2 NA18962.hp2 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA19004.hp2 NA19012.hp2 NA19067.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0001g0001 a0001c0001t0004g0004	27	167	0.1617	48	c.22 others(57): Show c.222_*223insCCCACCATCACCCCCACCCCCACCACCACCCCCACC ATCACCCCCATC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				222		chr20	TogoVar
NPBWR2_chr20_64098802_64112565	64105613	G G	GGGTGATG others(41): Show GGGTGATGGTGGGGGTGGTGGTGGGGGTGGGGGTGATGGTGGGCGTGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 NA18981.hp2 HG01358.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0049 a0001c0001t0048 a0001c0001t0049	a0001c0001t0048g0078 a0001c0001t0049g0079 a0001c0001t0048g0078 a0001c0001t0049g0079	2	335	0.0060	48	c.21 others(57): Show c.216_*217insATCACGCCCACCATCACCCCCACCCCCACCACCACC CCCACCATCACC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				216		chr20	TogoVar
NPIPB8_chr16_28633065_28663744	28639444	C C	CACACACA others(41): Show CACACACATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18522.hp1 HG03540.hp1 NA18522.hp1	a0009 a0031 a0009 a0031	a0009c0010 a0031c0051 a0009c0010 a0031c0051	a0009c0010t0003 a0031c0051t0003 a0009c0010t0003 a0031c0051t0003	a0009c0010t0003g0328 a0031c0051t0003g0329 a0009c0010t0003g0328 a0031c0051t0003g0329	2	252	0.0079	48	c.120 others(63): Show c.120+965_120+966insCACACATATATATATATATATATATATATA TATATATATATATATATA		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB8_chr16_28633065_28663744	28639444	C C	CACACACA others(41): Show CACACACATATATATATATATATATATGTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0041 a0041	a0041c0050 a0041c0050	a0041c0050t0003 a0041c0050t0003	a0041c0050t0003g0332 a0041c0050t0003g0332	1	251	0.0040	48	c.120 others(63): Show c.120+965_120+966insCACACATATATATATATATATATATGTATA TATATATATATATATATA		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPSR1_chr7_34653218_34854978	34663067	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0167 a0003c0005t0005g0167	1	166	0.0060	48	c.147 others(65): Show c.147+4509_147+4510insCTCTCTCTCTCTCTCTCTCTCTCTCTGT GTGTGTGTGTGTGTGTGTGT		NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAGAAAGA others(41): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	87	0.0115	48	c.-77 others(57): Show c.-775_-774insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA		NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding					278		chr10	TogoVar
NRG3_chr10_81870194_82992178	82491293	A A	AATATATA others(41): Show AATATATATATATATATATACATATATATATATATATATATATACATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG01071.hp2 others(5): Show HG00639.hp2 HG00642.hp1 HG01071.hp2 HG02055.hp1 HG03017.hp2 HG04204.hp2 NA19079.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0033 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0002t0002g0009 a0001c0002t0002g0031 a0001c0002t0002g0035 a0001c0002t0002g0048	8	43	0.1860	48	c.953 others(69): Show c.953+132444_953+132445insCATATATATATATATATATATATA CATATATATATATATATATATATA		NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
NRIP1_chr21_14956235_15070000	15031126	C C	CACTCTGG others(41): Show CACTCTGGAAGGTGTTCAGAGGTTCACCACATTCCCTTTCTATGTGTAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02145.hp1 HG02723.hp1 others(3): Show HG00558.hp2 HG02145.hp1 HG02723.hp1 HG03041.hp1 HG03579.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0004 a0003c0005t0013 a0001c0001t0004 a0003c0005t0013	a0001c0001t0004g0089 a0003c0005t0013g0002 a0003c0005t0013g0017 others(2): Show a0001c0001t0004g0089 a0003c0005t0013g0002 a0003c0005t0013g0017 a0003c0005t0013g0018 a0003c0005t0013g0019	6	396	0.0152	48	c.-45 others(69): Show c.-458+12368_-458+12369insATACACATAGAAAGGGAATGTGGT GAACCTCTGAACACCTTCCAGAGT		NRIP1	ENSG00000180530.11	transcript	ENST00000318948.7	protein_coding	2/3						chr21	TogoVar
NRIP2_chr12_2820348_2840035	2828160	T T	TGGGGGGG others(41): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	420	0.0024	48	c.579 others(63): Show c.579-114_579-113insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCC		NRIP2	ENSG00000053702.15	transcript	ENST00000337508.9	protein_coding	3/5						chr12	TogoVar
NRSN1_chr6_24121215_24152530	24150816	C C	CAAGAAAG others(41): Show CAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG04199.hp2 NA18612.hp1 others(8): Show HG01943.hp1 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18981.hp2 NA19001.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0050 a0001c0001t0001 a0001c0001t0002 a0001c0001t0050	a0001c0001t0001g0033 a0001c0001t0001g0126 a0001c0001t0001g0137 others(6): Show a0001c0001t0001g0033 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0039 a0001c0001t0002g0102 a0001c0001t0002g0198 a0001c0001t0050g0242	11	228	0.0482	48	c.48 others(59): Show c.4870_*4871insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA		NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding					3287		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150850	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	404	0.0025	48	c.49 others(59): Show c.4904_*4905insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAG		NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding					3321		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150881	A A	AAGAAAGA others(41): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 NA18986.hp1 HG01256.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	320	0.0063	48	c.49 others(59): Show c.4935_*4936insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAG		NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding					3352		chr6	TogoVar
NRSN1_chr6_24121215_24152530	24150884	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	402	0.0025	48	c.49 others(59): Show c.4938_*4939insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGG		NRSN1	ENSG00000152954.12	transcript	ENST00000378491.9	protein_coding					3355		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50277391	T T	TCCTTCCT others(41): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0050 a0001c0001t0009g0050	1	50	0.0200	48	c.336 others(69): Show c.3365-40422_3365-40421insGAGGGAGGGAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGG		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50277391	T T	TCCTTCCT others(41): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02683.hp2 others(8): Show HG00738.hp1 HG01433.hp1 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp2 NA18975.hp1 NA19012.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0036 a0001c0001t0046 others(6): Show a0001c0001t0003 a0001c0001t0036 a0001c0001t0046 a0001c0002t0001 a0001c0002t0005 a0001c0002t0045 a0001c0002t0048 a0001c0002t0065 a0001c0004t0007	a0001c0001t0003g0023 a0001c0001t0036g0061 a0001c0001t0046g0044 others(8): Show a0001c0001t0003g0023 a0001c0001t0036g0061 a0001c0001t0046g0044 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0005g0103 a0001c0002t0045g0090 a0001c0002t0048g0109 a0001c0002t0065g0116 a0001c0004t0007g0094 a0001c0004t0007g0097	11	60	0.1833	48	c.336 others(69): Show c.3365-40422_3365-40421insGAGGGAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGG		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50334209	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATGTATGTATGTATG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0003 a0001c0001t0021g0003	1	48	0.0208	48	c.336 others(69): Show c.3365-97240_3365-97239insCATACATACATACATATATATATA TATATATATATATATATATATATA		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAAGAAAGAAGGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0057 a0001c0001t0043g0057	1	57	0.0175	48	c.336 others(69): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCCTT CTTTCTTTTCTTTCTTTCTTTCTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	7	0.1429	48	c.833 others(67): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18948.hp1 HG00438.hp2 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0098 a0001c0002t0007g0093 a0001c0002t0003g0098 a0001c0002t0007g0093	2	8	0.2500	48	c.833 others(67): Show c.833-60032_833-60031insATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	78235002	A A	ATATATAT others(41): Show ATATATATATATATATATATGTGTATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0023 a0001c0006t0001g0023	1	23	0.0435	48	c.-70 others(67): Show c.-703-7370_-703-7369insGTGTATATATATATATATATATATAT GTGTATATATATATATATATAT		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79257382	G G	GTGGTGGT others(41): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0010 a0001c0007t0002g0010	1	22	0.0455	48	c.326 others(71): Show c.3263-209834_3263-209833insGTGATGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTGGTGATGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79257544	G G	GTGGTGGT others(41): Show GTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0016 a0001c0002t0011g0016	1	22	0.0455	48	c.326 others(71): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTGATGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSA2_chr5_74762249_74785113	74784510	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	238	0.0042	48	c.78 others(59): Show c.7839_*7840insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA		NSA2	ENSG00000164346.10	transcript	ENST00000610426.5	protein_coding					4398		chr5	TogoVar
NSD1_chr5_177128773_177305213	177158998	T T	TTATATAT others(41): Show TTATATATATATATATATATGAATGATATATATATATATATGAATGATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0133 a0001c0003t0007g0133	1	54	0.0185	48	c.927 others(67): Show c.927+22987_927+22988insGAATGATATATATATATATATGAATG ATATATATATATATATATATAT		NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
NSRP1_chr17_30111816_30191475	30122352	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	212	0.0047	48	c.114 others(65): Show c.114+4213_114+4214insATATATATATATATATATATATATATAT ATATATATATATATATATAT		NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NSUN2_chr5_6594239_6638044	6600654	T T	TGGGAGAC others(41): Show TGGGAGACTCTGCCCTTAGCAGGGCGTCAGAGCAGGACCCAGGACCACC	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	435	0.0023	48	c.199 others(65): Show c.1998-470_1998-423dupGGTGGTCCTGGGTCCTGCTCTGACGCCC TGCTAAGGGCAGAGTCTCCC		NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	18/18						chr5	TogoVar
NTM_chr11_131365615_132341822	132275704	A A	ATATATAT others(41): Show ATATATATATGTATATATATACGTATATATATATATGTATATATATACG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02615.hp1 others(4): Show HG02258.hp2 HG02280.hp2 HG02615.hp1 HG03516.hp1 HG03540.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0001 a0001c0001t0004 a0001c0001t0009	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0004g0014 a0001c0001t0004g0043 a0001c0001t0004g0072 a0001c0001t0009g0015	7	45	0.1556	48	c.527 others(67): Show c.527-31955_527-31954insTATATGTATATATATACGTATATATA TGTATATATATACGTATATATA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	4/8					INFO_REALIGN_3_PRIME	chr11	TogoVar

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