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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NSUN2_chr5_6594239_6638044	6622243	TTTTAGGG others(12): Show TTTTAGGGATTCTACACTGC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0159 a0001c0004t0001g0159	1	436	0.0023	-19	c.538 others(34): Show c.538-162_538-144delGCAGTGTAGAATCCCTAAA	NSUN2	ENSG00000037474.15	transcript	ENST00000264670.11	protein_coding	5/18			chr5	TogoVar
NSUN5_chr7_73297516_73313826	73311095	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp2 HG02615.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0003 a0001c0001t0001g0007	2	35	0.0571	-19	c.-23 others(30): Show c.-2324_-2306delTTTTTTTTTTTTTTTTTTT	NSUN5	ENSG00000130305.17	transcript	ENST00000438747.7	protein_coding		2270		chr7	TogoVar
NSUN7_chr4_40744955_40816184	40757579	ATATATAT others(12): Show ATATATATACACATTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02723.hp1 others(1): Show HG02145.hp2 HG02257.hp2 HG02723.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149	4	390	0.0103	-19	c.299 others(36): Show c.299-2846_299-2828delCACATTGTGTGTATATATA	NSUN7	ENSG00000179299.17	transcript	ENST00000381782.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NT5C1A_chr1_39646229_39677107	39652030	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG03195.hp2 HG02818.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0025 a0001c0001t0034g0025	2	42	0.0476	-19	c.70 others(30): Show c.7072_*7090delTTTTTTTTTTTTTTTTTTT	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	6/6	7072		chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39663465	CCAGGGTC others(12): Show CCAGGGTCAACCCTGGGCTT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0099 a0001c0002t0060g0099	1	324	0.0031	-19	c.434 others(32): Show c.434-50_434-32delAAGCCCAGGGTTGACCCTG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1B_chr2_18557871_18594569	18562218	TTCATGTG others(12): Show TTCATGTGTGACCCTCAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02486.hp1 HG02258.hp1 HG02486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0057 a0001c0007t0001g0057	2	390	0.0051	-19	c.15 others(30): Show c.1559_*1577delCCCTGAGGGTCACACATGA	NT5C1B	ENSG00000185013.17	transcript	ENST00000304081.9	protein_coding		652		chr2	TogoVar
NT5C2_chr10_103083038_103198272	103177646	AGAACAGC others(12): Show AGAACAGCTAGAAATACAGG	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	338	0.0030	-19	c.-24 others(36): Show c.-24-2683_-24-2665delCCTGTATTTCTAGCTGTTC	NT5C2	ENSG00000076685.19	transcript	ENST00000404739.8	protein_coding	2/18			chr10	TogoVar
NTF4_chr19_49056128_49069818	49060036	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 NA19043.hp2 HG00735.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	71	0.0282	-19	c.13 others(30): Show c.1310_*1328delTTTTTTTTTTTTTTTTTTT	NTF4	ENSG00000225950.9	transcript	ENST00000593537.2	protein_coding		1091		chr19	TogoVar
NTM_chr11_131365615_132341822	131432839	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01169.hp2 others(2): Show HG01081.hp1 HG01081.hp2 HG01169.hp2 HG01515.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0036 a0001c0001t0002g0018 a0001c0001t0006g0034 others(2): Show a0001c0001t0001g0036 a0001c0001t0002g0018 a0001c0001t0006g0034 a0001c0002t0001g0077 a0001c0002t0005g0039	5	9	0.5556	-19	c.82+ others(36): Show c.82+61965_82+61983delTTTTTTTTTTTTTTTTTTT	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131440816	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0002c0003t0011 a0001c0001t0007 a0002c0003t0011	a0001c0001t0007g0007 a0002c0003t0011g0052 a0001c0001t0007g0007 a0002c0003t0011g0052	2	6	0.3333	-19	c.82+ others(36): Show c.82+69958_82+69976delAAAAAAAAAAAAAAAAAAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131789546	AAAAGAAG others(12): Show AAAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	81	0.0123	-19	c.83- others(38): Show c.83-122015_83-121997delAGAAGAAGAAGAAGAAGAA	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131873543	TATATACA others(12): Show TATATACATATATATATACC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	86	0.0116	-19	c.83- others(36): Show c.83-38020_83-38002delATATACATATATATATACC	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8			chr11	TogoVar
NTN1_chr17_9016510_9249000	9106467	CCCTTCCT others(12): Show CCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	37	0.0270	-19	c.101 others(40): Show c.1019-56345_1019-56327delCCTTCCTTCCTTCCTTCCT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6			chr17	TogoVar
NTN1_chr17_9016510_9249000	9119586	ACTCCTGG others(12): Show ACTCCTGGGCGTAAATGATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01261.hp2 HG01358.hp1 others(2): Show HG00735.hp2 HG01261.hp2 HG01358.hp1 HG01496.hp1 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0001 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0186 a0001c0001t0008g0124 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0186 a0001c0001t0008g0124 a0001c0001t0016g0117 a0001c0001t0016g0121	5	256	0.0195	-19	c.101 others(40): Show c.1019-43220_1019-43202delGGCGTAAATGATCCTCCTG	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NTN1_chr17_9016510_9249000	9233138	GCCCACCT others(12): Show GCCCACCTCGAGCAGCCCAT	G G	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	256	0.0039	-19	c.148 others(38): Show c.1487-6501_1487-6483delCCCACCTCGAGCAGCCCAT	NTN1	ENSG00000065320.9	transcript	ENST00000173229.7	protein_coding	6/6			chr17	TogoVar
NTRK3_chr15_87854751_88261739	88197094	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0122 a0001c0002t0012g0122	1	16	0.0625	-19	c.249 others(38): Show c.249-12814_249-12796delTTTTTTTTTTTTTTTTTTT	NTRK3	ENSG00000140538.17	transcript	ENST00000629765.3	protein_coding	3/19			chr15	TogoVar
NTSR1_chr20_62703836_62767771	62767586	AAAGAGAG others(12): Show AAAGAGAGAGAGAGAGAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	314	0.0032	-19	c.73 others(30): Show c.7320_*7338delAAGAGAGAGAGAGAGAAAG	NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding		4816		chr20	TogoVar
NUBPL_chr14_31556404_31866224	31575014	GTTTCTTC others(12): Show GTTTCTTCTGTTATTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02004.hp2 HG02572.hp2 others(3): Show HG01433.hp1 HG02004.hp2 HG02572.hp2 HG02723.hp2 HG03209.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0022 a0002c0006t0009	a0001c0001t0002g0008 a0001c0001t0006g0170 a0001c0001t0008g0171 others(3): Show a0001c0001t0002g0008 a0001c0001t0006g0170 a0001c0001t0008g0171 a0001c0001t0009g0167 a0001c0001t0022g0169 a0002c0006t0009g0168	6	266	0.0226	-19	c.291 others(36): Show c.291+9970_291+9988delCTTCTGTTATTTCTTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31700642	GCCGGCCA others(12): Show GCCGGCCAGTGCCACTGGCC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02717.hp2 HG03516.hp2 HG02055.hp2 HG02717.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268 a0001c0001t0013g0266 a0001c0001t0013g0267 a0001c0001t0013g0268	3	266	0.0113	-19	c.513 others(38): Show c.513+27073_513+27091delCCAGTGCCACTGGCCCCGG	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUBPL_chr14_31556404_31866224	31841917	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	139	0.0072	-19	c.694 others(36): Show c.694-4541_694-4523delTTTTTTTTTTTTTTTTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUCB2_chr11_17271739_17337211	17312511	CTCTGCCT others(12): Show CTCTGCCTCAGCCTCCTGAG	C C	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	358	0.0028	-19	c.912 others(34): Show c.912+393_912+411delCTGCCTCAGCCTCCTGAGT	NUCB2	ENSG00000070081.18	transcript	ENST00000529010.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr11	TogoVar
NUDC_chr1_26916743_26951871	26936157	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19091.hp2 NA18943.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0169 a0001c0001t0006g0170	2	250	0.0080	-19	c.160 others(36): Show c.160-5298_160-5280delATATATATTTTTTTTTTTT	NUDC	ENSG00000090273.14	transcript	ENST00000321265.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
NUDT14_chr14_105167939_105186312	105181227	CGGGGGCC others(12): Show CGGGGGCCGCGAGCTCTGCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	394	0.0025	-19	c.-37 others(26): Show c.-37_-19delCGCAGAGCTCGCGGCCCCC	NUDT14	ENSG00000183828.15	transcript	ENST00000392568.7	protein_coding	1/5	19		chr14	TogoVar
NUDT2_chr9_34324569_34348699	34333565	ATGCAGTG others(12): Show ATGCAGTGAGCTCTTGAGGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	434	0.0023	-19	c.-26 others(38): Show c.-264-2652_-264-2634delCTTGAGGCTGCAGTGAGCT	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUDT2_chr9_34324569_34348699	34346403	TATATATA others(12): Show TATATATATATATATATGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	434	0.0023	-19	c.29 others(30): Show c.2964_*2982delATATATATATATATATGTA	NUDT2	ENSG00000164978.18	transcript	ENST00000379158.7	protein_coding		2705		chr9	TogoVar
NUDT3_chr6_34274679_34397669	34308119	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01192.hp2 HG00733.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0131 a0001c0001t0020g0132 a0001c0001t0020g0131 a0001c0001t0020g0132	2	3	0.6667	-19	c.211 others(38): Show c.211-12453_211-12435delTTTTTTTTTTTTTTTTTTT	NUDT3	ENSG00000272325.2	transcript	ENST00000607016.2	protein_coding	2/4			chr6	TogoVar
NUDT4_chr12_93372925_93413146	93406275	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0281 a0001c0001t0068g0281	1	64	0.0156	-19	c.69 others(30): Show c.6908_*6926delAAAAAAAAAAAAAAAAAAA	NUDT4	ENSG00000173598.14	transcript	ENST00000415493.7	protein_coding	5/5	6908	INFO_REALIGN_3_PRIME	chr12	TogoVar
NUMBL_chr19_40660905_40695651	40666139	GTTTTTTT others(12): Show GTTTTTTTTTTTTTGTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00738.hp1 others(31): Show HG00099.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01884.hp1 HG02280.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03669.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020 a0010c0011t0003	a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0003g0053 others(20): Show a0001c0001t0003g0018 a0001c0001t0003g0025 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0061 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0004g0042 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0235 a0001c0001t0005g0022 a0001c0001t0005g0115 a0001c0001t0005g0218 a0001c0001t0005g0219 a0001c0001t0008g0051 a0001c0001t0020g0186 a0010c0011t0003g0224	34	406	0.0837	-19	c.13 others(30): Show c.1310_*1328delAAAAACAAAAAAAAAAAAA	NUMBL	ENSG00000105245.9	transcript	ENST00000252891.8	protein_coding	10/10	1310		chr19	TogoVar
NUMB_chr14_73270216_73463546	73352505	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	320	0.0031	-19	c.126 others(36): Show c.126+3102_126+3120delTATATATATATATATATAT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	4/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73445354	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	16	0.0625	-19	c.-23 others(40): Show c.-233+13120_-233+13138delTTTTTTTTTTTTTTTTTTT	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding	1/12			chr14	TogoVar
NUMB_chr14_73270216_73463546	73459607	AGCAACTT others(12): Show AGCAACTTTCTAATAAGCGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18969.hp1 NA18995.hp1 others(2): Show HG04228.hp1 NA18969.hp1 NA18995.hp1 NA19011.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 others(2): Show a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306	5	320	0.0156	-19	c.-13 others(30): Show c.-1366_-1348delCCGCTTATTAGAAAGTTGC	NUMB	ENSG00000133961.21	transcript	ENST00000555238.6	protein_coding		1062		chr14	TogoVar
NUP153_chr6_17610037_17711925	17630774	GAGGAGAG others(12): Show GAGGAGAGAAGAGAGAAGAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	1	314	0.0032	-19	c.266 others(38): Show c.2660-1254_2660-1236delGTCTTCTCTCTTCTCTCCT	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	17/21			chr6	TogoVar
NUP153_chr6_17610037_17711925	17655071	ATATACTG others(12): Show ATATACTGCTACATGTTTTG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0001 a0013c0020t0001	a0013c0020t0001g0191 a0013c0020t0001g0191	1	314	0.0032	-19	c.139 others(38): Show c.1396-5790_1396-5772delCAAAACATGTAGCAGTATA	NUP153	ENSG00000124789.12	transcript	ENST00000262077.3	protein_coding	11/21			chr6	TogoVar
NUP160_chr11_47773118_47853350	47782298	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0034 a0002c0002t0001g0034	1	316	0.0032	-19	c.401 others(36): Show c.4014+756_4014+774delATATATATATATATTTTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782300	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	1	323	0.0031	-19	c.401 others(36): Show c.4014+754_4014+772delATATATATATATATATTTT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782302	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0078 a0006c0012t0001g0078	1	326	0.0031	-19	c.401 others(36): Show c.4014+752_4014+770delATATATATATATATATATT	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47782304	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19062.hp1 HG02056.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0225 a0001c0001t0001g0124 a0001c0001t0001g0225	2	267	0.0075	-19	c.401 others(36): Show c.4014+750_4014+768delATATATATATATATATATA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	34/35			chr11	TogoVar
NUP160_chr11_47773118_47853350	47793722	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	5	0.2000	-19	c.318 others(36): Show c.3188-795_3188-777delAAAAAAAAAAAAAAAAAAA	NUP160	ENSG00000030066.14	transcript	ENST00000378460.7	protein_coding	27/35			chr11	TogoVar
NUP210_chr3_13311235_13425322	13313200	ACTGTTAG others(12): Show ACTGTTAGCCAGGATGGTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18946.hp2 NA18956.hp1 others(2): Show NA18939.hp2 NA18946.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1	a0005 a0022 a0005 a0022	a0005c0003 a0022c0031 a0005c0003 a0022c0031	a0005c0003t0001 a0022c0031t0001 a0005c0003t0001 a0022c0031t0001	a0005c0003t0001g0229 a0005c0003t0001g0235 a0005c0003t0001g0241 others(2): Show a0005c0003t0001g0229 a0005c0003t0001g0235 a0005c0003t0001g0241 a0005c0003t0001g0264 a0022c0031t0001g0092	5	324	0.0154	-19	c.44 others(30): Show c.4462_*4480delAGACCATCCTGGCTAACAG	NUP210	ENSG00000132182.13	transcript	ENST00000254508.7	protein_coding		3034		chr3	TogoVar
NUP58_chr13_25296625_25347421	25304502	ATATATAT others(12): Show ATATATATATATATATGTAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(12): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG01256.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG02615.hp2 HG02683.hp1 HG03654.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0005 a0001c0001t0003g0026 a0001c0001t0003g0052 others(7): Show a0001c0001t0003g0005 a0001c0001t0003g0026 a0001c0001t0003g0052 a0001c0001t0003g0064 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0099 a0001c0001t0003g0105 a0001c0001t0009g0005	15	347	0.0432	-19	c.107 others(36): Show c.107+2624_107+2642delATATATATATATATGTATT	NUP58	ENSG00000139496.18	transcript	ENST00000381736.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
NUP85_chr17_75200679_75240758	75202792	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp2 HG03834.hp1 HG03834.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0001 a0001c0001t0001 a0005c0011t0001	a0001c0001t0001g0002 a0005c0011t0001g0065 a0001c0001t0001g0002 a0005c0011t0001g0065	2	30	0.0667	-19	c.-29 others(30): Show c.-2969_-2951delTTTTTTTTTTTTTTTTTTT	NUP85	ENSG00000125450.11	transcript	ENST00000245544.9	protein_coding		2886		chr17	TogoVar
NUPR2_chr7_56109681_56121417	56114198	AGTAGTCT others(12): Show AGTAGTCTATCACATTTAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01943.hp2 HG01981.hp2 others(13): Show HG00544.hp2 HG01943.hp2 HG01981.hp2 NA18939.hp1 NA18940.hp2 NA18953.hp1 NA18963.hp1 NA18975.hp2 NA18993.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19080.hp1 NA19081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0066 a0001c0001t0001g0067	16	446	0.0359	-19	c.68 others(28): Show c.687_*705delCCTAAATGTGATAGACTAC	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding		482		chr7	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 NA19030.hp2 HG02723.hp1 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	3	48	0.0625	-19	c.17- others(32): Show c.17-828_17-810delTTTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NVL_chr1_224222345_224335172	224253934	AGTGACTA others(12): Show AGTGACTAATGGTGTGAAGC	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0098 a0002c0004t0001g0098	1	282	0.0035	-19	c.218 others(38): Show c.2183-3635_2183-3617delGCTTCACACCATTAGTCAC	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	18/22			chr1	TogoVar
NWD1_chr19_16714847_16822953	16735847	AAGGAAGG others(12): Show AAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp2 HG02615.hp2 HG03130.hp2	a0009 a0028 a0009 a0028	a0009c0010 a0028c0062 a0009c0010 a0028c0062	a0009c0010t0010 a0028c0062t0030 a0009c0010t0010 a0028c0062t0030	a0009c0010t0010g0131 a0028c0062t0030g0250 a0009c0010t0010g0131 a0028c0062t0030g0250	2	298	0.0067	-19	c.82- others(32): Show c.82-766_82-748delGGAAGGAAGGAAGGAAGGA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16777150	AGGGAAGG others(12): Show AGGGAAGGGGAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0011 a0011c0011t0011	a0011c0011t0011g0025 a0011c0011t0011g0025	1	298	0.0034	-19	c.260 others(38): Show c.2609-2190_2609-2172delGAAGGGGAAGGGAAAGGGG	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NXF1_chr11_62787130_62810440	62809673	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	159	0.0063	-19	c.-43 others(30): Show c.-4336_-4318delTTTTTTTTTTTTTTTTTTT	NXF1	ENSG00000162231.14	transcript	ENST00000294172.7	protein_coding		4234		chr11	TogoVar
NXF2_chrX_102242167_102331722	102274542	CTCTTCTT others(12): Show CTCTTCTTCCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	32	0.0313	-19	c.-54 others(38): Show c.-54+25993_-54+26011delCTTCTTCTTCTTCTTCTTC	NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
NXN_chr17_794310_984776	948200	ATTATAAG others(12): Show ATTATAAGTAATCTAGAGGT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	240	0.0042	-19	c.360 others(38): Show c.360+31100_360+31118delACCTCTAGATTACTTATAA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948826	GGCCTCCT others(12): Show GGCCTCCTCCTCTCCCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	222	0.0045	-19	c.360 others(38): Show c.360+30474_360+30492delAGGGGGGAGAGGAGGAGGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

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