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	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
NEDD4L_chr18_58039226_58406539	58369427	AGATGGGA others(38): Show AGATGGGAATGTCCCTGTCGGCAGGGCTCATTCTGCACATCTGTCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG00738.hp1 others(60): Show HG00099.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01099.hp2 HG01346.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02109.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA18951.hp1 NA18962.hp2 NA18971.hp2 NA18983.hp2 NA18995.hp1 NA19004.hp1 NA19060.hp1 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0044 a0001c0001t0049 a0001c0004t0004 a0002c0003t0040	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0030 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0109 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0040 a0001c0001t0003g0064 a0001c0001t0003g0078 a0001c0001t0003g0095 a0001c0001t0003g0113 a0001c0001t0005g0081 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0007g0057 a0001c0001t0007g0092 a0001c0001t0007g0093 a0001c0001t0007g0104 a0001c0001t0008g0051 a0001c0001t0008g0060 a0001c0001t0009g0115 a0001c0001t0010g0061 a0001c0001t0012g0046 a0001c0001t0012g0114 a0001c0001t0014g0074 a0001c0001t0014g0108 a0001c0001t0016g0017 a0001c0001t0018g0009 a0001c0001t0018g0087 a0001c0001t0019g0036 a0001c0001t0021g0047 a0001c0001t0024g0070 a0001c0001t0028g0110 a0001c0001t0029g0016 a0001c0001t0030g0055 a0001c0001t0031g0082 a0001c0001t0033g0049 a0001c0001t0034g0023 a0001c0001t0035g0045 a0001c0001t0036g0069 a0001c0001t0037g0076 a0001c0001t0039g0012 a0001c0001t0042g0063 a0001c0001t0044g0020 a0001c0001t0049g0008 a0001c0004t0004g0116 a0002c0003t0040g0117	63	118	0.5339	-45	c.218 others(62): Show c.2186-923_2186-879delATGGGAATGTCCCTGTCGGCAGGGCTCA TTCTGCACATCTGTCCG		NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	22/30					INFO_REALIGN_3_PRIME	chr18	TogoVar
NEXN_chr1_77883624_77948895	77887912	TTTCTTCT others(38): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02976.hp1 HG04115.hp1 others(2): Show HG02897.hp2 HG02976.hp1 HG04115.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0003t0004 a0001c0001t0004 a0001c0001t0007 a0001c0003t0004	a0001c0001t0004g0256 a0001c0001t0007g0208 a0001c0001t0007g0211 others(2): Show a0001c0001t0004g0256 a0001c0001t0007g0208 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0003t0004g0203	5	268	0.0187	-45	c.-89 others(54): Show c.-899_-855delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTC		NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding					711		chr1	TogoVar
NFATC1_chr18_79390930_79534323	79510834	TGCCGGGG others(38): Show TGCCGGGGCATCCTCTGCCGGGGCATCCTCTGCCGGGGCATCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp2 HG02559.hp1 NA19043.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0025 a0001c0013t0056 a0001c0013t0025 a0001c0013t0056	a0001c0013t0025g0046 a0001c0013t0056g0110 a0001c0013t0025g0046 a0001c0013t0056g0110	2	322	0.0062	-45	c.278 others(66): Show c.2783-16679_2783-16635delTGCCGGGGCATCCTCTGCCGGGGC ATCTTCCGCCGGGGCATCCTC		NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
NGB_chr14_77260483_77276206	77269682	CTCTCTCT others(38): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02015.hp2 HG02135.hp1 others(2): Show HG00673.hp1 HG02015.hp2 HG02135.hp1 HG04184.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0176 a0001c0001t0001g0187 others(1): Show a0001c0001t0001g0050 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0240	5	366	0.0137	-45	c.90- others(58): Show c.90-401_90-357delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGA		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269756	TCTCTCTC others(38): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	366	0.0027	-45	c.90- others(58): Show c.90-475_90-431delGGGGGGGAGAGGGAGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NGB_chr14_77260483_77276206	77269758	TCTCTCTC others(38): Show TCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCCCTCTCCCCCCCCC	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	366	0.0027	-45	c.90- others(58): Show c.90-477_90-433delGGGGGGGGGAGAGGGAGAGGGAGAGAGAGAGA GAGAGAGAGAGAG		NGB	ENSG00000165553.5	transcript	ENST00000298352.5	protein_coding	1/3						chr14	TogoVar
NIBAN2_chr9_127500343_127574073	127523191	AAATATAT others(38): Show AAATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	332	0.0030	-45	c.589 others(60): Show c.589+443_589+487delATATATATATATATATATATATATATATAT ATATATATATATATT		NIBAN2	ENSG00000136830.12	transcript	ENST00000373312.4	protein_coding	5/13						chr9	TogoVar
NKD1_chr16_50543396_50654249	50589736	TCTCTTCT others(38): Show TCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCCTCTCCTCTCCTCTC	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0170 a0001c0001t0049g0170	1	212	0.0047	-45	c.193 others(64): Show c.193-18553_193-18509delTCTCTTCTCTTCTCTTCTCTTCTCTC CTCTCCTCTCCTCTCCTCT		NKD1	ENSG00000140807.7	transcript	ENST00000268459.6	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr16	TogoVar
NKX1-1_chr4_1397932_1411442	1397940	GCCGGGTG others(38): Show GCCGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG02132.hp2 HG02965.hp2 others(1): Show HG01167.hp2 HG02132.hp2 HG02965.hp2 NA19004.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	4	382	0.0105	-45	c.49 others(56): Show c.4947_*4991delTATCCAACCTGATCTACTCACATCCAGATGCCCG AAAACACCCGG		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4991		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1397942	CGGGTGTT others(38): Show CGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG03239.hp2 NA18955.hp2 others(2): Show HG02148.hp1 HG03239.hp2 NA18955.hp2 NA18974.hp1 NA20905.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0013 a0001c0001 a0002c0002 a0012c0013	a0001c0001t0001 a0002c0002t0001 a0012c0013t0001 a0001c0001t0001 a0002c0002t0001 a0012c0013t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0012c0013t0001g0035 a0001c0001t0001g0001 a0002c0002t0001g0002 a0012c0013t0001g0035	5	382	0.0131	-45	c.49 others(56): Show c.4945_*4989delTGTATCCAACCTGATCTACTCACATCCAGATGCC CGAAAACACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4989		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398257	AGGGTGTT others(38): Show AGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01943.hp1 HG02056.hp2 others(12): Show HG00597.hp1 HG01943.hp1 HG02056.hp2 HG02698.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03540.hp1 NA18944.hp1 NA19009.hp1 NA19066.hp1 NA19080.hp2 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0003c0003t0001g0016 a0001c0001t0001g0001 a0002c0002t0001g0002 a0003c0003t0001g0016	15	382	0.0393	-45	c.46 others(56): Show c.4630_*4674delGGCATCCAACCTGATCTACTCACATCCAGATGCC CGAAAACACCC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4674		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398283	AGTAGATC others(38): Show AGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02257.hp2 HG02258.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	2	382	0.0052	-45	c.46 others(56): Show c.4604_*4648delCCACATCCAGATGCCCGAAAACACCCGGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4648		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398328	GGTAGATC others(38): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	382	0.0026	-45	c.45 others(56): Show c.4559_*4603delTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4603		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398373	AGTAGATC others(38): Show AGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	382	0.0052	-45	c.45 others(56): Show c.4514_*4558delCCACATCCAGATGCCCGAAAACACCCGGCATCCA ACCTGATCTAC		NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding					4558		chr4	TogoVar
NKX2-6_chr8_23696740_23711756	23708481	CCTTCTTC others(38): Show CCTTCTTCTTCTTCCTCCTCCTCTTCTTCTTCTTCTTCTTCTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	434	0.0023	-45	c.-19 others(56): Show c.-1928_-1884delAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAGGA AGAAGAAGAAG		NKX2-6	ENSG00000180053.8	transcript	ENST00000325017.4	protein_coding					1726		chr8	TogoVar
NME2_chr17_51161411_51176744	51169628	CCAGACTG others(38): Show CCAGACTGGCCACTTTCTCCTTTCTTCACCAGTTCTTCTGTGTTGA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	413	0.0024	-45	c.229 others(60): Show c.229-308_229-264delCAGACTGGCCACTTTCTCCTTTCTTCACCA GTTCTTCTGTGTTGA		NME2	ENSG00000243678.12	transcript	ENST00000512737.6	protein_coding	3/4						chr17	TogoVar
NME8_chr7_37843597_37905397	37848225	AAGAAGAA others(38): Show AAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0007 a0007	a0007c0017 a0007c0017	a0007c0017t0001 a0007c0017t0001	a0007c0017t0001g0197 a0007c0017t0001g0197	1	388	0.0026	-45	c.-74 others(54): Show c.-743_-699delAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAG AAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					371		chr7	TogoVar
NMRK2_chr19_3928069_3947416	3937446	CCCCCTCC others(38): Show CCCCCTCCACTATTCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19068.hp1 HG02056.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0198 a0001c0001t0001g0186 a0001c0001t0001g0198	2	404	0.0050	-45	c.166 others(60): Show c.166+163_166+207delTCCACTATTCCCCCGGGGTCCGCCCTCCTG CAATGCCCGCTCCCC		NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH3_chr19_15154038_15205995	15173735	AAAAAAAG others(38): Show AAAAAAAGAAAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	340	0.0029	-45	c.473 others(62): Show c.4736+288_4736+332delCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTTCTTTTCTTTTTT		NOTCH3	ENSG00000074181.9	transcript	ENST00000263388.7	protein_coding	25/32						chr19	TogoVar
NPBWR2_chr20_64098802_64112565	64105590	GGTGATGG others(38): Show GGTGATGGTGGGCGTGATGGTGGGGGTGGGGGTGATGGGGGTGGGC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18969.hp1 NA18983.hp2 NA18969.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0036 a0001c0001t0029g0036	2	355	0.0056	-45	c.19 others(54): Show c.195_*239delGCCCACCCCCATCACCCCCACCCCCACCATCACGCC CACCATCAC		NPBWR2	ENSG00000125522.4	transcript	ENST00000684052.1	protein_coding	2/2				195		chr20	TogoVar
NPIPB2_chr16_11922373_11947045	11927411	ACCTCCGC others(38): Show ACCTCCGCCTCTTGGGCTCGGGTGATGATGGTTCCACCTCAGCGGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp2 HG02109.hp2	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0001 a0005c0017t0001	a0005c0017t0001g0043 a0005c0017t0001g0043	1	414	0.0024	-45	c.111 others(54): Show c.1111_1155delGCCGCTGAGGTGGAACCATCATCACCCGAGCCCAAG AGGCGGAGG	p.Ala others(13): Show p.Ala371_Arg385del	NPIPB2	ENSG00000234719.9	transcript	ENST00000399147.8	protein_coding	8/8	1155/1194	1111/1194	371/397			chr16	TogoVar
NPR2_chr9_35786591_35814731	35804748	CTCCTCTA others(38): Show CTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02922.hp1 HG03041.hp2 others(2): Show HG02809.hp1 HG02922.hp1 HG03041.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	5	416	0.0120	-45	c.188 others(62): Show c.1888-718_1888-674delTTCCTCTACCCCGACCTGCCCACCTCCC TCTAGTAGATCTTGTTC		NPR2	ENSG00000159899.16	transcript	ENST00000342694.7	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
NPR2_chr9_35786591_35814731	35804793	TTCCTCTA others(38): Show TTCCTCTACCCCGACCTGCCCACCTCCCTCTAGTAGATCTTGTTCC	T T	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	416	0.0024	-45	c.188 others(62): Show c.1888-523_1888-479delCTGCCCACCTCCCTCTAGTAGATCTTGT TCCTCCTCTACCCCGAC		NPR2	ENSG00000159899.16	transcript	ENST00000342694.7	protein_coding	12/21					INFO_REALIGN_3_PRIME	chr9	TogoVar
NPRL3_chr16_80386_143673	98347	CTGCACCG others(38): Show CTGCACCGGGTATGCACCAGGTCCTGCACCAGGTATGCACCGGGTA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	350	0.0029	-45	c.768 others(58): Show c.768-91_768-47delTACCCGGTGCATACCTGGTGCAGGACCTGGTG CATACCCGGTGCA		NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	8/13						chr16	TogoVar
NPY4R_chr10_46456099_46470958	46466245	TTCTTTCT others(38): Show TTCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG02922.hp2 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0040 a0002c0002t0002g0019 a0002c0002t0002g0040	2	290	0.0069	-45	c.-82 others(54): Show c.-828_-784delGAGAGAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAG AAAGAAAGA		NPY4R	ENSG00000204174.8	transcript	ENST00000374312.5	protein_coding					288		chr10	TogoVar
NRXN1_chr2_49913503_51037132	50399789	TAAAAAAA others(38): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01934.hp2 HG01952.hp1 others(3): Show HG00738.hp2 HG01934.hp2 HG01952.hp1 HG02145.hp1 HG02683.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0027 a0001c0001t0032 a0001c0001t0052 a0001c0003t0002	a0001c0001t0003g0026 a0001c0001t0004g0011 a0001c0001t0027g0009 others(3): Show a0001c0001t0003g0026 a0001c0001t0004g0011 a0001c0001t0027g0009 a0001c0001t0032g0007 a0001c0001t0052g0043 a0001c0003t0002g0024	6	116	0.0517	-45	c.336 others(66): Show c.3364+65608_3364+65652delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTT		NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22						chr2	TogoVar
NSL1_chr1_212721153_212796777	212725075	CCAGCTGC others(38): Show CCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGCAGCCCCTGCCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18961.hp1 NA18969.hp1 others(3): Show NA18941.hp2 NA18961.hp1 NA18969.hp1 NA19063.hp2 NA19068.hp1 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0118 a0002c0002t0120 a0002c0002t0005 a0002c0002t0118 a0002c0002t0120	a0002c0002t0005g0001 a0002c0002t0005g0024 a0002c0002t0005g0033 others(3): Show a0002c0002t0005g0001 a0002c0002t0005g0024 a0002c0002t0005g0033 a0002c0002t0005g0063 a0002c0002t0118g0025 a0002c0002t0120g0069	6	364	0.0165	-45	c.13 others(58): Show c.13288_*13332delCCGGGCAGGGGCTGCCCCCCACCTCCCTCCCG GACGGGGCAGCTG		NSL1	ENSG00000117697.15	transcript	ENST00000366977.8	protein_coding					1077		chr1	TogoVar
NTM_chr11_131365615_132341822	131789485	AAGAAGAG others(38): Show AAGAAGAGGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	86	0.0116	-45	c.83- others(64): Show c.83-122077_83-122033delGAAGAGGAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131865848	CTCACACA others(38): Show CTCACACATGCTACATACACACATGCTACACACACACCTCCCACAT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01255.hp2 HG03239.hp1 others(2): Show HG01169.hp2 HG01255.hp2 HG03239.hp1 HG03710.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0076 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0076 a0001c0001t0003g0006 a0001c0002t0001g0010	5	86	0.0581	-45	c.83- others(62): Show c.83-45671_83-45627delTTCACACATGCTACATACACACATGCTA CACACACACCTCCCACA		NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
NTSR1_chr20_62703836_62767771	62747244	ATAAAGGC others(38): Show ATAAAGGCCACGTATGACAGACCCACAGCTAACACCACACTCAGTG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp2 HG02622.hp2 HG02109.hp1 HG02451.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0008 a0001c0001t0018	a0001c0001t0008g0292 a0001c0001t0008g0296 a0001c0001t0018g0204 a0001c0001t0008g0292 a0001c0001t0008g0296 a0001c0001t0018g0204	3	316	0.0095	-45	c.715 others(62): Show c.715-7289_715-7245delCAGACCCACAGCTAACACCACACTCAGT GTAAAGGCCACGTATGA		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NTSR1_chr20_62703836_62767771	62747447	ACCCACAG others(38): Show ACCCACAGCTAACACCACACTCAGTGTAAAGGCCACGTATGACAGT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG01069.hp1 others(44): Show HG00621.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01255.hp1 HG01358.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18954.hp1 NA18980.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0005 a0002c0010 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0019 a0001c0001t0024 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0045 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0046 a0001c0003t0012 a0001c0003t0031 a0001c0008t0016 a0002c0005t0010 a0002c0005t0029 a0002c0005t0057 a0002c0010t0004 a0003c0004t0008 a0003c0004t0018 a0003c0004t0041 a0004c0006t0008 a0004c0006t0013	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0002g0293 others(41): Show a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0002g0293 a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0031 a0001c0001t0004g0158 a0001c0001t0004g0168 a0001c0001t0004g0225 a0001c0001t0004g0268 a0001c0001t0005g0299 a0001c0001t0019g0222 a0001c0001t0019g0298 a0001c0001t0024g0280 a0001c0001t0033g0004 a0001c0001t0034g0171 a0001c0001t0038g0276 a0001c0001t0045g0291 a0001c0001t0047g0229 a0001c0001t0049g0052 a0001c0001t0050g0128 a0001c0002t0046g0196 a0001c0003t0012g0122 a0001c0003t0012g0126 a0001c0003t0012g0238 a0001c0003t0031g0060 a0001c0008t0016g0150 a0001c0008t0016g0151 a0002c0005t0010g0019 a0002c0005t0010g0020 a0002c0005t0010g0148 a0002c0005t0010g0227 a0002c0005t0029g0228 a0002c0005t0057g0147 a0002c0010t0004g0254 a0003c0004t0008g0003 a0003c0004t0008g0217 a0003c0004t0018g0263 a0003c0004t0041g0081 a0004c0006t0008g0080 a0004c0006t0013g0271 a0004c0006t0013g0294 a0004c0006t0013g0295	47	316	0.1487	-45	c.715 others(62): Show c.715-7193_715-7149delTCCCACAGCTAACACCACACTCAGTGTA AAGGCCACGTATGACAG		NTSR1	ENSG00000101188.5	transcript	ENST00000370501.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr20	TogoVar
NUDT12_chr5_103543855_103567789	103566701	AGGAGAAT others(38): Show AGGAGAATGGCGCAAACCCAGGAGGCAGAAGTTGCAGTGAGCCAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0056 a0002c0004t0006g0056	1	438	0.0023	-45	c.-40 others(56): Show c.-4050_-4006delCTTGGCTCACTGCAACTTCTGCCTCCTGGGTTTG CGCCATTCTCC		NUDT12	ENSG00000112874.10	transcript	ENST00000230792.7	protein_coding					3913		chr5	TogoVar
NUDT7_chr16_77717514_77747260	77737015	CTAGACCA others(38): Show CTAGACCATAGGAAACTAGACCATAGGAAACTAGACTATAGGAAAT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	462	0.0022	-45	c.348 others(62): Show c.348+1040_348+1084delGAAACTAGACCATAGGAAACTAGACTAT AGGAAATTAGACCATAG		NUDT7	ENSG00000140876.11	transcript	ENST00000268533.9	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535526	TCTTTCTT others(38): Show TCTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTCCTTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0252 a0001c0001t0252	a0001c0001t0252g0060 a0001c0001t0252g0060	1	368	0.0027	-45	c.21 others(56): Show c.2112_*2156delGAAGGAAGGAAAGAAAGAAAGAAAGAAGGAAAGA AAGAAAGAAAG		NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3				2448		chr16	TogoVar
NWD2_chr4_37239743_37454463	37405421	TAATAGAA others(38): Show TAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	296	0.0034	-45	c.358 others(64): Show c.358-25123_358-25079delTAGAATAGAATAGAATAGAATAGAAT AGAATAGAATAGAATAGAA		NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2_chrX_102242167_102331722	102274532	CTTCCTCT others(38): Show CTTCCTCTTCCTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	38	0.0263	-45	c.-54 others(64): Show c.-54+25975_-54+26019delTTCCTCTTCCTCTTCTTCCTTCTTCT TCTTCTTCTTCTTCTTCTT		NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22						chrX	TogoVar
NXF2_chrX_102242167_102331722	102274538	CTTCCTCT others(38): Show CTTCCTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	38	0.0263	-45	c.-54 others(64): Show c.-54+25981_-54+26025delTTCCTCTTCTTCCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTT		NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22						chrX	TogoVar
NXF2_chrX_102242167_102331722	102274550	CCTTCTTC others(38): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	38	0.0263	-45	c.-54 others(64): Show c.-54+26035_-54+26079delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTT		NXF2	ENSG00000269405.7	transcript	ENST00000625106.4	protein_coding	2/22					INFO_REALIGN_3_PRIME	chrX	TogoVar
NXNL2_chr9_88530178_88549973	88540729	ACTGCCGG others(38): Show ACTGCCGGGGTGGGGGCTGTGTCCATTGGTTCTTTGGGGAATAGGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(124): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01515.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0003c0004t0001	a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0081 others(38): Show a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0081 a0001c0001t0001g0127 a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0087 a0001c0001t0002g0106 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0003g0085 a0001c0001t0004g0011 a0001c0001t0007g0032 a0001c0001t0008g0001 a0001c0001t0008g0107 a0001c0001t0009g0089 a0001c0001t0013g0084 a0001c0001t0014g0101 a0003c0004t0001g0102	127	336	0.3780	-45	c.303 others(62): Show c.303-3646_303-3602delCCGGGGTGGGGGCTGTGTCCATTGGTTC TTTGGGGAATAGGCCTG		NXNL2	ENSG00000130045.17	transcript	ENST00000375854.8	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr9	TogoVar
NXN_chr17_794310_984776	806235	CTCCCCAG others(38): Show CTCCCCAGGGCTGCAGCCCCCGCCGTCTGCACCCCAGCTCCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	242	0.0041	-45	c.821 others(61): Show c.821-1033_821-989delAGGGGGGAGCTGGGGTGCAGACGGCGGGG GCTGCAGCCCTGGGGA		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7						chr17	TogoVar
NXN_chr17_794310_984776	835726	AAAAAACA others(38): Show AAAAAACACCGGTGGGATTCGTCAGCCCCCACAGAGGCCGCAGGGG	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	242	0.0041	-45	c.361 others(62): Show c.361-9693_361-9649delCCCCTGCGGCCTCTGTGGGGGCTGACGA ATCCCACCGGTGTTTTT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	835845	TAGAGGCC others(38): Show TAGAGGCCGCAGGGAAAAAACACCGGTGGGATTCGTCAGCCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02451.hp1 HG01346.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0075 a0001c0002t0004g0158 a0001c0001t0001g0075 a0001c0002t0004g0158	2	242	0.0083	-45	c.361 others(62): Show c.361-9812_361-9768delGTGGGGGCTGACGAATCCCACCGGTGTT TTTTCCCTGCGGCCTCT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXPE4_chr11_114565591_114600786	114588521	TCTCCTAT others(38): Show TCTCCTATAGTAGGCCAAAAGGGAAAAAAGAATATAGAGAAAATGA	T T	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	432	0.0023	-45	c.97- others(60): Show c.97-5545_97-5501delTCATTTTCTCTATATTCTTTTTTCCCTTTT GGCCTACTATAGGAG		NXPE4	ENSG00000137634.10	transcript	ENST00000375478.4	protein_coding	2/5						chr11	TogoVar
ODF2_chr9_128451006_128506292	128491276	CTCGTGGT others(38): Show CTCGTGGTCTGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGG	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	346	0.0029	-45	c.178 others(64): Show c.1786-1148_1786-1104delCGTGGTCTGCCCACCTTGGCCTCCCA AAGTGCTGGGATTACAGGT		ODF2	ENSG00000136811.17	transcript	ENST00000351030.8	protein_coding	14/20					INFO_REALIGN_3_PRIME	chr9	TogoVar
ONECUT3_chr19_1748506_1785988	1769149	CGGTGGAG others(38): Show CGGTGGAGGTGGTGAAGGAAGAGGTGCTGGAGGTGGAGGTGATGGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0139 a0002c0005t0139	a0002c0005t0139g0279 a0002c0005t0139g0279	1	370	0.0027	-45	c.119 others(64): Show c.1193-5978_1193-5934delCTGGAGGTGGAGGTGATGGAGGTGGA GGTGGTGAAGGAAGAGGTG		ONECUT3	ENSG00000205922.5	transcript	ENST00000382349.5	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr19	TogoVar
OPCML_chr11_132409981_133537501	133231910	AAATGGAC others(38): Show AAATGGACACATGATGTAAAAGGCTTAGGATCCTACAAGGAAGGGC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01192.hp1 others(35): Show HG00642.hp1 HG01071.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01978.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 others(35): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0019 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0003g0031 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0050 a0001c0001t0004g0007 a0001c0001t0004g0018 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0045 a0001c0001t0007g0029 a0001c0001t0008g0010 a0001c0001t0009g0064 a0001c0001t0010g0061 a0001c0001t0010g0066 a0001c0001t0011g0056 a0001c0001t0011g0057 a0001c0001t0012g0063 a0001c0001t0016g0012 a0001c0001t0017g0052 a0001c0001t0018g0008 a0001c0001t0021g0036 a0001c0001t0025g0054 a0001c0001t0027g0055 a0001c0001t0029g0058 a0001c0001t0031g0062 a0001c0001t0032g0065	38	68	0.5588	-45	c.62- others(64): Show c.62-288945_62-288901delGCCCTTCCTTGTAGGATCCTAAGCCT TTTACATCATGTGTCCATT		OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7						chr11	TogoVar
OPN3_chr1_241588124_241645369	241614778	CATAGTCC others(38): Show CATAGTCCCATTTGGACAGATATCCTAGCCTTAGGCTTTTCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0338 a0001c0001t0005g0338	1	410	0.0024	-45	c.374 others(64): Show c.374-10244_374-10200delAGGCAGAAAAGCCTAAGGCTAGGATA TCTGTCCAAATGGGACTAT		OPN3	ENSG00000054277.14	transcript	ENST00000366554.3	protein_coding	1/3						chr1	TogoVar
OR1L3_chr9_122670130_122681104	122679066	CTATATTA others(38): Show CTATATTATATAATATATATTATATATAACACTATATTATATAATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00733.hp1 HG01081.hp2 others(14): Show HG00621.hp1 HG00733.hp1 HG01081.hp2 HG01106.hp1 HG01255.hp2 HG01258.hp1 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02129.hp1 HG02148.hp1 HG02293.hp1 HG02622.hp1 HG04199.hp1 NA18982.hp1 NA19057.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0008c0016t0001 a0001c0001t0001 a0008c0016t0001	a0001c0001t0001g0000 a0008c0016t0001g0000 a0001c0001t0001g0000 a0008c0016t0001g0000	17	380	0.0447	-45	c.29 others(56): Show c.2963_*3007delTATATTATATAATATATATTATATATAACACTAT ATTATATAATA		OR1L3	ENSG00000171481.5	transcript	ENST00000304820.5	protein_coding					2963		chr9	TogoVar
OR4S1_chr11_48301223_48312152	48305999	TTATATAT others(38): Show TTATATATATATAATATATATTATTATATATAATATATAATTTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	426	0.0024	-45	c.-22 others(54): Show c.-223_-179delTATATATATATAATATATATTATTATATATAATATA TAATTTATA		OR4S1	ENSG00000176555.1	transcript	ENST00000319988.1	protein_coding					223		chr11	TogoVar
OR6J1_chr14_22625929_22649352	22636364	CCCTCTCC others(38): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	362	0.0028	-45	c.-27 others(62): Show c.-27-1571_-27-1527delAGAGGGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGG		OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1						chr14	TogoVar

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