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
NPEPPS_chr17_47526108_47628276	47538202	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03669.hp1 HG02273.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0210 a0001c0001t0002g0177 a0001c0001t0002g0210	2	117	0.0171	39	c.255 others(56): Show c.255+6670_255+6671insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NPEPPS	ENSG00000141279.18	transcript	ENST00000322157.9	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
NPFFR1_chr10_70242329_70289004	70272211	G G	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	100	0.0100	39	c.8-5 others(52): Show c.8-5821_8-5820insTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTC TTTCTTT		NPFFR1	ENSG00000148734.8	transcript	ENST00000277942.7	protein_coding	1/3						chr10	TogoVar
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0174 a0001c0004t0001g0174	1	32	0.0313	39	c.517 others(56): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAATATATATATAT ATATATATATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5978574	T T	TTATTGGG others(32): Show TTATTGGGAGGCTACCTCTCTCCCACAGCTACGGTCTTGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0142 a0001c0003t0001g0142	1	207	0.0048	39	c.136 others(54): Show c.136-162_136-161insCCAAGACCGTAGCTGTGGGAGAGAGGTAGC CTCCCAATA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	2/29						chr1	TogoVar
NPHP4_chr1_5857811_5997425	5997239	C C	CTAGTGAT others(32): Show CTAGTGATAGTGATTTGGATTTTTAATTTTCAAAAAAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	208	0.0048	39	c.-50 others(50): Show c.-5035_-5034insTACTTTTTTGAAAATTAAAAATCCAAATCACTAT CACTA		NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding					4815		chr1	TogoVar
NPIPB15_chr16_74371306_74397115	74377800	C C	CCCCCTTC others(32): Show CCCCCTTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	171	0.0058	39	c.-22 others(54): Show c.-22-147_-22-146insTCCCCTCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCT		NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr16	TogoVar
NPIPB2_chr16_11922373_11947045	11927438	A A	ATTCCACC others(32): Show ATTCCACCTCAGCGGCCCTCCGCCTCTTGGGTTCGGGTGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03490.hp2 HG03492.hp1 HG03669.hp1 others(2): Show HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0014 a0002c0009t0001g0339 a0002c0009t0001g0341 a0002c0009t0001g0014 a0002c0009t0001g0339 a0002c0009t0001g0341	5	411	0.0122	39	c.112 others(48): Show c.1128_1129insCCACCCGAACCCAAGAGGCGGAGGGCCGCTGAGGTG GAA	p.Pro others(13): Show p.Pro364_Pro376dup	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	1128/1194	1128/1194	376/397			chr16	TogoVar
NPIPB6_chr16_28337517_28368508	28339066	C C	CGAGACTC others(32): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02257.hp1 HG02258.hp2 others(7): Show HG01106.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03486.hp2	a0005 a0008 a0005 a0008	a0005c0005 a0008c0007 a0005c0005 a0008c0007	a0005c0005t0002 a0005c0005t0004 a0008c0007t0002 a0005c0005t0002 a0005c0005t0004 a0008c0007t0002	a0005c0005t0002g0203 a0005c0005t0002g0211 a0005c0005t0002g0212 others(7): Show a0005c0005t0002g0203 a0005c0005t0002g0211 a0005c0005t0002g0212 a0005c0005t0002g0214 a0005c0005t0002g0215 a0005c0005t0002g0216 a0005c0005t0002g0218 a0005c0005t0002g0255 a0005c0005t0004g0031 a0008c0007t0002g0197	10	342	0.0292	39	c.35 others(50): Show c.3540_*3541insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTC		NPIPB6	ENSG00000198156.11	transcript	ENST00000695563.1	protein_coding					3450		chr16	TogoVar
NRCAM_chr7_108142649_108461436	108164547	C C	CCAGCGGG others(32): Show CCAGCGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02922.hp1 others(4): Show HG01256.hp2 HG01258.hp2 HG02922.hp1 HG03486.hp1 HG03669.hp1 HG04204.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0005 a0002c0008 a0001c0009 a0002c0005 a0002c0008	a0001c0009t0002 a0002c0005t0003 a0002c0008t0003 a0001c0009t0002 a0002c0005t0003 a0002c0008t0003	a0001c0009t0002g0050 a0001c0009t0002g0092 a0001c0009t0002g0120 others(4): Show a0001c0009t0002g0050 a0001c0009t0002g0092 a0001c0009t0002g0120 a0001c0009t0002g0121 a0001c0009t0002g0164 a0002c0005t0003g0200 a0002c0008t0003g0025	7	50	0.1400	39	c.346 others(58): Show c.3466+2373_3466+2374insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCCCGCTG		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	76	0.0132	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01928.hp2 HG01261.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0097 a0001c0001t0002g0099	2	77	0.0260	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAAAATATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19082.hp1 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0092 a0001c0001t0002g0039 a0001c0001t0002g0092	2	77	0.0260	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAAAAAAATATATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAATATATATATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	76	0.0132	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAAATATATATATATAATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	76	0.0132	39	c.64 others(50): Show c.6499_*6500insAAAAAAAAAAAAAAAAAATATATATATATATATA TATAT		NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding					4605		chr7	TogoVar
NRG2_chr5_139841781_140048299	140029687	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01934.hp1 HG02080.hp2 others(1): Show HG01099.hp1 HG01934.hp1 HG02080.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0001c0001t0001 a0002c0002t0002 a0003c0003t0001	a0001c0001t0001g0023 a0001c0001t0001g0072 a0002c0002t0002g0010 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0072 a0002c0002t0002g0010 a0003c0003t0001g0044	4	123	0.0325	39	c.700 others(58): Show c.700+12682_700+12683insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9						chr5	TogoVar
NRG3_chr10_81870194_82992178	82132525	G G	GATATATA others(32): Show GATATATATATGATATATATATCATATATATATATCATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03017.hp1 HG03516.hp1 HG02630.hp1 HG03017.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0002t0007 a0001c0001t0003 a0001c0002t0002 a0001c0002t0007	a0001c0001t0003g0010 a0001c0002t0002g0041 a0001c0002t0007g0066 a0001c0001t0003g0010 a0001c0002t0002g0041 a0001c0002t0007g0066	3	23	0.1304	39	c.824 others(60): Show c.824-226193_824-226192insCATATATATATATCATATATATAT ATATGATATATATAT		NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
NRXN1_chr2_49913503_51037132	50334190	C C	CACATTTT others(32): Show CACATTTTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG03195.hp2 others(1): Show HG02886.hp1 HG02922.hp1 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0035 a0001c0002t0001 a0001c0002t0045 others(1): Show a0001c0001t0035 a0001c0002t0001 a0001c0002t0045 a0001c0003t0002	a0001c0001t0035g0060 a0001c0002t0001g0104 a0001c0002t0045g0090 others(1): Show a0001c0001t0035g0060 a0001c0002t0001g0104 a0001c0002t0045g0090 a0001c0003t0002g0022	4	96	0.0417	39	c.336 others(60): Show c.3365-97221_3365-97220insATATATATATATATATATATATAT ATATATATAAAATGT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN1_chr2_49913503_51037132	50373679	A A	AAAGAAGG others(32): Show AAAGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19030.hp1 HG02559.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0088 a0001c0002t0005g0082 a0001c0002t0002g0088 a0001c0002t0005g0082	2	58	0.0345	39	c.336 others(60): Show c.3364+91762_3364+91763insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCCTTCTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NRXN3_chr14_78165373_79873291	79257370	G G	GTGGTGGT others(32): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0019 a0001c0003t0012g0019	1	24	0.0417	39	c.326 others(62): Show c.3263-209843_3263-209842insATGGTGGTGGTGGTGGTGGTGG TGGTGGTGATGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRXN3_chr14_78165373_79873291	79257541	G G	GTGGTGGT others(32): Show GTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA19043.hp1 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0015 a0001c0002t0007 a0001c0002t0015	a0001c0002t0007g0009 a0001c0002t0015g0011 a0001c0002t0007g0009 a0001c0002t0015g0011	2	24	0.0833	39	c.326 others(62): Show c.3263-209669_3263-209668insATGGTGGTGGTGATGGTGGTGG TGGTGATGGTGGTGGTG		NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr14	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0145 a0003c0003t0008g0145	1	235	0.0043	39	c.754 others(54): Show c.754-454_754-453insAAAAAAAAAAAAAAAAAAATATATATATAT ATATATATA		NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN5_chr7_73297516_73313826	73312097	A A	ATTACCCT others(32): Show ATTACCCTTTCATTATTATGTTTAAATTTTGTGTGGGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	418	0.0024	39	c.-33 others(50): Show c.-3308_-3307insGTACCCACACAAAATTTAAACATAATAATGAAAG GGTAA		NSUN5	ENSG00000130305.17	transcript	ENST00000438747.7	protein_coding					3272		chr7	TogoVar
NSUN6_chr10_18540561_18656587	18560064	A A	ATGGAGAA others(32): Show ATGGAGAATGGAATGGAATGGAGATTGAGCTGGAATGGAG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	344	0.0029	39	c.923 others(56): Show c.923-8094_923-8093insCTCCATTCCAGCTCAATCTCCATTCCAT TCCATTCTCCA		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
NSUN6_chr10_18540561_18656587	18562787	T T	TGGAATGG others(32): Show TGGAATGGAATGGATAATGGAATGGAATGGAGTGGAGAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	48	0.0208	39	c.923 others(58): Show c.923-10817_923-10816insTTTCTCCACTCCATTCCATTCCATTA TCCATTCCATTCC		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10						chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600941	A A	AAAAAAAT others(32): Show AAAAAAATATATATATATATATATATATATATACACATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0320 a0001c0001t0006g0320	1	90	0.0111	39	c.658 others(56): Show c.658-4615_658-4614insATATGTGTATATATATATATATATATAT ATATATTTTTT		NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10						chr10	TogoVar
NT5C2_chr10_103083038_103198272	103087140	A A	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0021 a0001c0002t0004g0021	1	16	0.0625	39	c.25 others(50): Show c.2531_*2532insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA		NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding					897		chr10	TogoVar
NTM_chr11_131365615_132341822	131685291	A A	AGCATCCA others(32): Show AGCATCCATGGGAAGCAGCTGGGGGCTCATGGAGAGTCGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02615.hp2 HG03041.hp2 others(3): Show HG02055.hp2 HG02615.hp2 HG03041.hp2 HG03098.hp1 HG03540.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0004t0003	a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 others(3): Show a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0002g0020 a0001c0001t0002g0053 a0001c0001t0010g0019 a0001c0004t0003g0054	6	86	0.0698	39	c.83- others(58): Show c.83-226230_83-226192dupTCCATGGGAAGCAGCTGGGGGCTCAT GGAGAGTCGGGCA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131874032	T T	TATAATAT others(32): Show TATAATATAATATTATATATATATATAATAATATAATATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03239.hp2 HG03710.hp1 others(2): Show HG01255.hp1 HG03239.hp2 HG03710.hp1 HG04184.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0058 a0001c0001t0002g0033 a0001c0001t0002g0035 others(2): Show a0001c0001t0001g0058 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0003g0061 a0001c0002t0001g0075	5	86	0.0581	39	c.83- others(56): Show c.83-37529_83-37528insATATAATATTATATATATATATAATAAT ATAATATAATA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTN1_chr17_9016510_9249000	9038265	C C	CTCACACA others(32): Show CTCACACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp2 HG03139.hp2 HG02280.hp1 HG02970.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0112 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0112	3	109	0.0275	39	c.101 others(60): Show c.1018+14874_1018+14875insTCACACACACACACACACACACAC ACACACACACACACA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6						chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	69	0.0145	39	c.101 others(60): Show c.1019-48646_1019-48645insAAAAAAAAAAATATATATATATAT ATATATATATATATA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9114166	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0172 a0001c0001t0019g0173 a0001c0001t0004g0172 a0001c0001t0019g0173	2	70	0.0286	39	c.101 others(60): Show c.1019-48646_1019-48645insAAAAAAATATATATATATATATAT ATATATATATATATA		NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN5_chr19_48656407_48678017	48669243	C C	CCACCACC others(32): Show CCACCACCACGACCATCATCACCACCACCATCACCACTAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0043 a0001c0002t0002g0043	1	231	0.0043	39	c.631 others(56): Show c.631+1112_631+1113insATAGTGGTGATGGTGGTGGTGATGATGG TCGTGGTGGTG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NTN5_chr19_48656407_48678017	48669549	C C	CCATCATC others(32): Show CCATCATCACCATCACCACCATCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	328	0.0030	39	c.631 others(54): Show c.631+806_631+807insATGGTGGTGGTGGTGGTGATGGTGGTGATG GTGATGATG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NUDT12_chr5_103543855_103567789	103562821	G G	GAGGGGGG others(32): Show GAGGGGGGGCGGGAGGGGGGCCGGGGGCGGGAGGGGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01934.hp2 HG02723.hp2 others(1): Show HG01175.hp2 HG01934.hp2 HG02723.hp2 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0007 a0001c0003t0005 a0001c0003t0007	a0001c0003t0005g0005 a0001c0003t0005g0016 a0001c0003t0007g0142 a0001c0003t0005g0005 a0001c0003t0005g0016 a0001c0003t0007g0142	4	405	0.0099	39	c.-12 others(48): Show c.-126_-125insGGCCCCCCTCCCGCCCCCGGCCCCCCTCCCGCCCCC CCT		NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding					33		chr5	TogoVar
NUDT17_chr1_145840630_145853954	145842809	A A	AGATAGAT others(32): Show AGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02630.hp1 HG02647.hp1 others(4): Show HG01433.hp1 HG02630.hp1 HG02647.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0004 a0001c0001t0001g0004 a0001c0001t0003g0004	7	391	0.0179	39	c.-28 others(50): Show c.-2832_-2831insGATAGATAGATAGATAGATAGATAGATAGATAGA TAGAT		NUDT17	ENSG00000186364.12	transcript	ENST00000334513.6	protein_coding					2820		chr1	TogoVar
NUDT21_chr16_56424133_56456332	56425436	T T	TGCCGCTG others(32): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	405	0.0025	39	c.72 others(50): Show c.7275_*7276insGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCA GCGGC		NUDT21	ENSG00000167005.14	transcript	ENST00000300291.10	protein_coding					3696		chr16	TogoVar
NUDT4_chr12_93372925_93413146	93382674	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0220 a0001c0002t0220	a0001c0002t0220g0070 a0001c0002t0220g0070	1	170	0.0059	39	c.99+ others(54): Show c.99+4273_99+4274insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr12	TogoVar
NUP133_chr1_229435259_229513341	229512581	A A	AGGGGGGG others(32): Show AGGGGGGGGGGGGGGTGAGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0023 a0003c0003t0001g0023	1	274	0.0036	39	c.-43 others(50): Show c.-4333_-4332insCCCCCCCCCCCCCCCCCCCCCCTCACCCCCCCCC CCCCC		NUP133	ENSG00000069248.12	transcript	ENST00000261396.6	protein_coding					4241		chr1	TogoVar
NUP160_chr11_47773118_47853350	47775210	T T	TAGAAAAA others(32): Show TAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03831.hp1 NA18906.hp1 others(2): Show HG02735.hp1 HG03831.hp1 NA18906.hp1 NA18943.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0192 a0001c0001t0002g0203 others(2): Show a0001c0001t0002g0064 a0001c0001t0002g0192 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0002g0287	5	259	0.0193	39	c.38 others(50): Show c.3894_*3895insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTCT		NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding					2907		chr11	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(32): Show CCACCACCACCACCACCACCACCAACAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02622.hp2 HG00621.hp1 HG02622.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0001 a0003c0006t0006 a0002c0002t0001 a0003c0006t0006	a0002c0002t0001g0244 a0003c0006t0006g0029 a0002c0002t0001g0244 a0003c0006t0006g0029	2	158	0.0127	39	c.57 others(50): Show c.5713_*5714insTTGTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGG TGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(32): Show CCACCACCACCACCACCACCACCACCAACAACAACAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0041 a0003c0006t0005g0041	1	157	0.0064	39	c.57 others(50): Show c.5713_*5714insTTGTTGTTGTTGTTGGTGGTGGTGGTGGTGGTGG TGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP210_chr3_13311235_13425322	13311967	C C	CCACCACC others(32): Show CCACCACCACCACCACCACCACCACCACCACCACCAACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03041.hp1 HG03471.hp2 others(1): Show HG02818.hp1 HG03041.hp1 HG03471.hp2 NA19043.hp1	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0018	a0003c0005 a0005c0003 a0006c0007 others(1): Show a0003c0005 a0005c0003 a0006c0007 a0018c0020	a0003c0005t0005 a0005c0003t0001 a0006c0007t0001 others(1): Show a0003c0005t0005 a0005c0003t0001 a0006c0007t0001 a0018c0020t0001	a0003c0005t0005g0050 a0005c0003t0001g0303 a0006c0007t0001g0022 others(1): Show a0003c0005t0005g0050 a0005c0003t0001g0303 a0006c0007t0001g0022 a0018c0020t0001g0192	4	160	0.0250	39	c.57 others(50): Show c.5713_*5714insTTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTG		NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding					4267		chr3	TogoVar
NUP214_chr9_131120586_131239663	131223727	A A	ATTTATTT others(32): Show ATTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0225	1	21	0.0476	39	c.590 others(56): Show c.5902+800_5902+801insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		NUP214	ENSG00000126883.19	transcript	ENST00000359428.10	protein_coding	32/35					INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP93_chr16_56725129_56855286	56815865	A A	ACTGCTGC others(32): Show ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01993.hp1 HG02293.hp2 others(3): Show HG01261.hp1 HG01993.hp1 HG02293.hp2 NA18612.hp2 NA18948.hp2 NA19081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0025 a0001c0004t0005g0027 a0001c0004t0005g0028 others(3): Show a0001c0004t0005g0025 a0001c0004t0005g0027 a0001c0004t0005g0028 a0001c0004t0005g0033 a0001c0004t0005g0034 a0001c0004t0005g0037	6	67	0.0896	39	c.490 others(56): Show c.490-2766_490-2765insCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTG		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56815902	C C	CTGCTGCT others(32): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGG	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0031 a0001c0004t0005g0031	1	376	0.0027	39	c.490 others(56): Show c.490-2748_490-2747insCTGCTGCTGCTGCTGCTGCTGCTGGTGC TGCTGCTGCTG		NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	304	0.0033	39	c.21 others(50): Show c.2119_*2120insAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAA AGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535563	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	304	0.0033	39	c.21 others(50): Show c.2119_*2120insAAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAA AGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2455		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	131	0.0076	39	c.21 others(50): Show c.2111_*2112insAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAA AGAAA		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2447		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115455	G G	GTATATAT others(32): Show GTATATATATATATATGAATATATTATATATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	287	0.0035	39	c.6+ others(52): Show c.6+559_*7-558insAATATATATATATATAATATATTCATATATAT ATATATA		NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1						chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115648	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	445	0.0022	39	c.6+ others(52): Show c.6+366_*6+367insTATATATATATATATATATATATATATATATA TATATAT		NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1						chr7	TogoVar

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